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Documentation
Protein Ontology report - TGF-beta superfamily receptor type-1
PR:000000006 -
http://purl.obolibrary.org/obo/PR_000000006
Protein Forms
Complex
Annotations
Ontology Information
Show OBO stanza
/
PAF
PRO ID
PR:000000006
PRO name
TGF-beta superfamily receptor type-1
Synonyms
Other
:
TbetaR-I (BROAD) | TGF-beta receptor type I (BROAD) | TGF-beta type I receptor (BROAD) | TGFR-1 (BROAD) | transforming growth factor-beta receptor type I (BROAD)
Definition
"A protein that is a translation product of an evolutionary-related gene with core domain composition consisting of an extracellular Activin types I and II receptor domain (
Pfam:PF01064
), a transmembrane domain, a Transforming growth factor beta type I GS-motif (
Pfam:PF08515
) and a Protein kinase domain (
Pfam:PF00069
). The transforming growth factor-beta (TGF-beta) superfamily of receptors comprises two groups of transmembrane serine-threonine kinase receptors, so called type-1, and type-2 receptors, that are activated following engagement by members of the TGF-beta superfamily of ligands. These events specify diverse downstream responses that are differentially regulated by controlling access and activation of the ligands, their receptors and downstream substrates in different cell types. The type 1 receptors are characterized by the presence of a glycine-serine rich juxta-membrane domain (the GS-motif) that is critical for their activation." [PRO:CNA]
PRO Category
family
Parent
PR:000000001
protein
Terms by PRO Category
Organism-Independent
Organism-Specific
Category
Number of Terms
Category
Number of Terms
Family
1
Organism-Family
0
Gene
7
Organism-Gene
24
Sequence
12
Organism-Sequence
93
Modification
19
Organism-Modification
36
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
PIRSF:PIRSF037391
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Protein Forms
Switch to
Extended View
Category
PRO Form Name
Ann.
Has Annotation?
Comp.
In Complex?
family
PR:000000006
TGF-beta superfamily receptor type-1, TGFBR2
Yes
gene
PR:000000035
BMP receptor type-1A, BMPR1A
organism-gene
PR:P36894
bone morphogenetic protein receptor type-1A (human), hBMPR1A
organism-sequence
PR:000000137
BMP receptor type-1A sequence variant Y62D (human), hBMPR1A/var:Y62D
Yes
organism-sequence
PR:000000138
BMP receptor type-1A sequence variant C82Y (human), hBMPR1A/var:C82Y
Yes
organism-sequence
PR:000000139
BMP receptor type-1A sequence variant C124R (human), hBMPR1A/var:C124R
Yes
organism-sequence
PR:000000140
BMP receptor type-1A sequence variant C130R (human), hBMPR1A/var:C130R
Yes
organism-sequence
PR:000000141
BMP receptor type-1A sequence variant A338D (human), hBMPR1A/var:A338D
Yes
organism-sequence
PR:000000142
BMP receptor type-1A sequence variant C376Y (human), hBMPR1A/var:C376Y
Yes
organism-sequence
PR:000000143
BMP receptor type-1A sequence variant R443C (human), hBMPR1A/var:R443C
Yes
organism-sequence
PR:000000144
BMP receptor type-1A sequence variant M470T (human), hBMPR1A/var:M470T
Yes
organism-sequence
PR:P36894-1
bone morphogenetic protein receptor type-1A isoform 1 (human), hBMPR1A/iso:1
Yes
organism-modification
PR:000036422
BMP receptor type-1A isoform 1 phosphorylated 1 (human), hBMPR1A/iso:1/Phos:1
Yes
organism-modification
PR:000036424
BMP receptor type-1A isoform 1 phosphorylated 2 (human), hBMPR1A/iso:1/Phos:2
organism-modification
PR:000046493
bone morphogenetic protein receptor type-1A, signal peptide removed form (human), hBMPR1A/SigPep-
organism-modification
PR:000046494
bone morphogenetic protein receptor type-1A, signal peptide removed phosphorylated 2 (human), hBMPR1A/SigPep-/Phos:2
organism-gene
PR:P36895
bone morphogenetic protein receptor type-1A (mouse), mBMPR1A
organism-sequence
PR:P36895-1
bone morphogenetic protein receptor type-1A isoform 1 (mouse), mBMPR1A/iso:1
Yes
organism-modification
PR:000036423
BMP receptor type-1A isoform 1 phosphorylated 1 (mouse), mBMPR1A/iso:1/Phos:1
Yes
organism-gene
PR:Q78EA7
bone morphogenetic protein receptor type-1A (rat), rBMPR1A
sequence
PR:000000136
BMP receptor type-1A isoform 1, BMPR1A/iso:1
organism-sequence
PR:P36894-1
bone morphogenetic protein receptor type-1A isoform 1 (human), hBMPR1A/iso:1
Yes
organism-modification
PR:000036422
BMP receptor type-1A isoform 1 phosphorylated 1 (human), hBMPR1A/iso:1/Phos:1
Yes
organism-modification
PR:000036424
BMP receptor type-1A isoform 1 phosphorylated 2 (human), hBMPR1A/iso:1/Phos:2
organism-sequence
PR:P36895-1
bone morphogenetic protein receptor type-1A isoform 1 (mouse), mBMPR1A/iso:1
Yes
organism-modification
PR:000036423
BMP receptor type-1A isoform 1 phosphorylated 1 (mouse), mBMPR1A/iso:1/Phos:1
Yes
modification
PR:000000382
BMP receptor type-1A isoform 1 phosphorylated form, BMPR1A/iso:1/PhosRes+
modification
PR:000000498
BMP receptor type-1A isoform 1 phosphorylated 1, BMPR1A/iso:1/Phos:1
organism-modification
PR:000036422
BMP receptor type-1A isoform 1 phosphorylated 1 (human), hBMPR1A/iso:1/Phos:1
Yes
organism-modification
PR:000036423
BMP receptor type-1A isoform 1 phosphorylated 1 (mouse), mBMPR1A/iso:1/Phos:1
Yes
modification
PR:000000499
BMP receptor type-1A isoform 1 phosphorylated 2, BMPR1A/iso:1/Phos:2
organism-modification
PR:000036424
BMP receptor type-1A isoform 1 phosphorylated 2 (human), hBMPR1A/iso:1/Phos:2
gene
PR:000000036
BMP receptor type-1B, BMPR1B
organism-gene
PR:O00238
bone morphogenetic protein receptor type-1B (human), hBMPR1B
organism-sequence
PR:000000146
BMP receptor type-1B sequence variant I200K (human), hBMPR1B/var:I200K
Yes
organism-sequence
PR:000000147
BMP receptor type-1B sequence variant R486W (human), hBMPR1B/var:R486W
Yes
organism-sequence
PR:O00238-1
bone morphogenetic protein receptor type-1B isoform 1 (human), hBMPR1B/iso:1
Yes
organism-modification
PR:000036426
BMP receptor type-1B isoform 1 phosphorylated 1 (human), hBMPR1B/iso:1/Phos:1
Yes
organism-sequence
PR:O00238-2
bone morphogenetic protein receptor type-1B isoform h2 (human), hBMPR1B/iso:h2
organism-modification
PR:000046495
bone morphogenetic protein receptor type-1B, signal peptide removed form (human), hBMPR1B/SigPep-
organism-modification
PR:000046496
bone morphogenetic protein receptor type-1B, signal peptide removed phosphoserine form (human), hBMPR1B/SigPep-/PhosSer+
organism-modification
PR:000046496
bone morphogenetic protein receptor type-1B, signal peptide removed phosphoserine form (human), hBMPR1B/SigPep-/PhosSer+
organism-gene
PR:P36898
bone morphogenetic protein receptor type-1B (mouse), mBMPR1B
organism-sequence
PR:P36898-1
bone morphogenetic protein receptor type-1B isoform 1 (mouse), mBMPR1B/iso:1
Yes
organism-modification
PR:000036425
BMP receptor type-1B isoform 1 phosphorylated 1 (mouse), mBMPR1B/iso:1/Phos:1
Yes
organism-gene
PR:Q05438
bone morphogenetic protein receptor type-1B (chicken), chick-BMPR1B
organism-gene
PR:Q09488
serine/threonine-protein kinase receptor sma-6 (worm), BMPR1B (worm)
organism-gene
PR:Q569A5
receptor protein serine/threonine kinase (rat), rBMPR1B
sequence
PR:000000145
BMP receptor type-1B isoform 1, BMPR1B/iso:1
organism-sequence
PR:O00238-1
bone morphogenetic protein receptor type-1B isoform 1 (human), hBMPR1B/iso:1
Yes
organism-modification
PR:000036426
BMP receptor type-1B isoform 1 phosphorylated 1 (human), hBMPR1B/iso:1/Phos:1
Yes
organism-sequence
PR:P36898-1
bone morphogenetic protein receptor type-1B isoform 1 (mouse), mBMPR1B/iso:1
Yes
organism-modification
PR:000036425
BMP receptor type-1B isoform 1 phosphorylated 1 (mouse), mBMPR1B/iso:1/Phos:1
Yes
modification
PR:000000383
BMP receptor type-1B isoform 1 phosphorylated form, BMPR1B/iso:1/PhosRes+
modification
PR:000000500
BMP receptor type-1B isoform 1 phosphorylated 1, BMPR1B/iso:1/Phos:1
organism-modification
PR:000036425
BMP receptor type-1B isoform 1 phosphorylated 1 (mouse), mBMPR1B/iso:1/Phos:1
Yes
organism-modification
PR:000036426
BMP receptor type-1B isoform 1 phosphorylated 1 (human), hBMPR1B/iso:1/Phos:1
Yes
gene
PR:000000047
TGF-beta receptor type-1, TGFBR1
organism-gene
PR:P36897
TGF-beta receptor type-1 (human), hTGFBR1
organism-sequence
PR:000000186
TGF-beta receptor type-1 sequence variant T200I (human), hTGFBR1/var:T200I
Yes
organism-sequence
PR:000000187
TGF-beta receptor type-1 sequence variant 10 (human), hTGFBR1/var:10
Yes
organism-sequence
PR:000000188
TGF-beta receptor type-1 sequence variant 11 (human), hTGFBR1/var:11
Yes
organism-sequence
PR:000000189
TGF-beta receptor type-1 sequence variant K232E (human), hTGFBR1/var:K232E
Yes
organism-sequence
PR:000000190
TGF-beta receptor type-1 sequence variant S241L (human), hTGFBR1/var:S241L
Yes
organism-sequence
PR:000000191
TGF-beta receptor type-1 sequence variant N267H (human), hTGFBR1/var:N267H
Yes
organism-sequence
PR:000000192
TGF-beta receptor type-1 sequence variant M318R (human), hTGFBR1/var:M318R
Yes
organism-sequence
PR:000000193
TGF-beta receptor type-1 sequence variant D400G (human), hTGFBR1/var:D400G
Yes
organism-sequence
PR:000000194
TGF-beta receptor type-1 sequence variant R487P (human), hTGFBR1/var:R487P
Yes
organism-sequence
PR:000000195
TGF-beta receptor type-1 sequence variant R487E (human), hTGFBR1/var:R487E
Yes
organism-sequence
PR:000000196
TGF-beta receptor type-1 sequence variant R487W (human), hTGFBR1/var:R487W
Yes
organism-sequence
PR:P36897-1
TGF-beta receptor type-1 isoform 1 (human), hTGFBR1/iso:1
Yes
organism-modification
PR:000036432
TGF-beta receptor type-1 isoform 1, signal peptide removed form (human), hTGFBR1/iso:1/SigPep-
Yes
organism-modification
PR:000025959
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human), hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-sequence
PR:P36897-2
TGF-beta receptor type-1 isoform h2 (human), hTGFBR1/iso:h2
organism-sequence
PR:P36897-3
TGF-beta receptor type-1 isoform h3 (human), hTGFBR1/iso:h3
organism-modification
PR:000049432
TGF-beta receptor type-1, signal peptide removed form (human), hTGFBR1/SigPep-
organism-modification
PR:000036432
TGF-beta receptor type-1 isoform 1, signal peptide removed form (human), hTGFBR1/iso:1/SigPep-
Yes
organism-modification
PR:000025959
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human), hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-modification
PR:000049433
TGF-beta receptor type-1, signal peptide removed ubiquitinated form (human), hTGFBR1/SigPep-/UbiqLys+
organism-modification
PR:000049433
TGF-beta receptor type-1, signal peptide removed ubiquitinated form (human), hTGFBR1/SigPep-/UbiqLys+
organism-modification
PR:000060809
TGF-beta receptor type-1 sequence variant G52R, signal peptide removed form (human), hTGFBR1/var:G52R/SigPep-
organism-modification
PR:000060890
TGF-beta receptor type-1 sequence variant R414*, signal peptide removed phosphorylated 1 (human), hTGFBR1/var:R414*/SigPep-/Phos:1
organism-modification
PR:000061254
TGF-beta receptor type-1 sequence variant P83L, signal peptide removed form (human), hTGFBR1/var:P83L/SigPep-
organism-modification
PR:000061891
TGF-beta receptor type-1 sequence variant P83S, signal peptide removed form (human), hTGFBR1/var:P83S/SigPep-
organism-modification
PR:000063489
TGF-beta receptor type-1 sequence variant C41Y, signal peptide removed form (human), hTGFBR1/var:C41Y/SigPep-
organism-modification
PR:000063569
TGF-beta receptor type-1 sequence variant N45S, signal peptide removed form (human), hTGFBR1/var:N45S/SigPep-
organism-modification
PR:000064307
TGF-beta receptor type-1 sequence variant W242*, signal peptide removed phosphorylated 1 (human), hTGFBR1/var:W242*/SigPep-/Phos:1
organism-modification
PR:000067321
TGF-beta receptor type-1 methylated 1 (human), hTGFBR1/Me:1
organism-modification
PR:000070298
TGF-beta receptor type-1 methylated 2 (human), hTGFBR1/Me:2
organism-modification
PR:000075184
TGF-beta receptor type-1 cysteinylated 1 (human), hTGFBR1/Cyst:1
organism-gene
PR:P80204
TGF-beta receptor type-1 (rat), rTGFBR1
organism-gene
PR:Q64729
TGF-beta receptor type-1 (mouse), mTGFBR1
organism-sequence
PR:Q64729-1
TGF-beta receptor type-1 isoform 1 (mouse), mTGFBR1/iso:1
organism-modification
PR:000036434
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse), mTGFBR1/iso:1/SigPep-/Phos:1
Yes
organism-sequence
PR:Q64729-2
TGF-beta receptor type-1 isoform m2 (mouse), mTGFBR1/iso:m2
sequence
PR:000000185
TGF-beta receptor type-1 isoform 1, TGFBR1/iso:1
organism-sequence
PR:P36897-1
TGF-beta receptor type-1 isoform 1 (human), hTGFBR1/iso:1
Yes
organism-modification
PR:000036432
TGF-beta receptor type-1 isoform 1, signal peptide removed form (human), hTGFBR1/iso:1/SigPep-
Yes
organism-modification
PR:000025959
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human), hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-sequence
PR:Q64729-1
TGF-beta receptor type-1 isoform 1 (mouse), mTGFBR1/iso:1
organism-modification
PR:000036434
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse), mTGFBR1/iso:1/SigPep-/Phos:1
Yes
modification
PR:000000522
TGF-beta receptor type-1 isoform 1, signal peptide removed form, TGFBR1/iso:1/SigPep-
modification
PR:000000408
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated form, TGFBR1/iso:1/SigPep-/PhosRes+
modification
PR:000000523
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1, TGFBR1/iso:1/SigPep-/Phos:1
Yes
organism-modification
PR:000025959
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human), hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-modification
PR:000036434
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse), mTGFBR1/iso:1/SigPep-/Phos:1
Yes
modification
PR:000003173
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated and ubiquitinated form, TGFBR1/iso:1/SigPep-/PhosUbiq+
modification
PR:000003173
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated and ubiquitinated form, TGFBR1/iso:1/SigPep-/PhosUbiq+
organism-modification
PR:000036432
TGF-beta receptor type-1 isoform 1, signal peptide removed form (human), hTGFBR1/iso:1/SigPep-
Yes
organism-modification
PR:000025959
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human), hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
modification
PR:000025411
TGF-beta receptor type-1 proteolytic cleavage product, TGFBR1/ClvPrd
modification
PR:000025932
TGF-beta receptor type-1, signal peptide removed form, TGFBR1/SigPep-
modification
PR:000000522
TGF-beta receptor type-1 isoform 1, signal peptide removed form, TGFBR1/iso:1/SigPep-
modification
PR:000000408
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated form, TGFBR1/iso:1/SigPep-/PhosRes+
modification
PR:000000523
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1, TGFBR1/iso:1/SigPep-/Phos:1
Yes
organism-modification
PR:000025959
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human), hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-modification
PR:000036434
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse), mTGFBR1/iso:1/SigPep-/Phos:1
Yes
modification
PR:000003173
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated and ubiquitinated form, TGFBR1/iso:1/SigPep-/PhosUbiq+
modification
PR:000003173
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated and ubiquitinated form, TGFBR1/iso:1/SigPep-/PhosUbiq+
organism-modification
PR:000036432
TGF-beta receptor type-1 isoform 1, signal peptide removed form (human), hTGFBR1/iso:1/SigPep-
Yes
organism-modification
PR:000025959
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human), hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-modification
PR:000049432
TGF-beta receptor type-1, signal peptide removed form (human), hTGFBR1/SigPep-
organism-modification
PR:000036432
TGF-beta receptor type-1 isoform 1, signal peptide removed form (human), hTGFBR1/iso:1/SigPep-
Yes
organism-modification
PR:000025959
TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human), hTGFBR1/iso:1/SigPep-/Phos:1
Yes
Yes
organism-modification
PR:000049433
TGF-beta receptor type-1, signal peptide removed ubiquitinated form (human), hTGFBR1/SigPep-/UbiqLys+
gene
PR:000000067
activin receptor type-1, ACVR1
organism-gene
PR:P37172
activin receptor type-1 (mouse), mACVR1
organism-sequence
PR:P37172-1
activin receptor type-1 isoform 1 (mouse), mACVR1/iso:1
organism-modification
PR:000036436
activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse), mACVR1/iso:1/SigPep-/Phos:1
Yes
organism-gene
PR:P80201
activin receptor type-1 (rat), rACVR1
organism-gene
PR:Q04771
activin receptor type-1 (human), hACVR1
organism-sequence
PR:000000200
activin receptor type-1 sequence variant R206H (human), hACVR1/var:R206H
Yes
organism-sequence
PR:Q04771-1
activin receptor type-1 isoform 1 (human), hACVR1/iso:1
organism-modification
PR:000036435
activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human), hACVR1/iso:1/SigPep-/Phos:1
Yes
organism-modification
PR:000068633
activin receptor type-1 cysteinylated 1 (human), hACVR1/Cyst:1
organism-gene
PR:Q90ZK6
activin receptor type-1 (chicken), chick-ACVR1
sequence
PR:000000199
activin receptor type-1 isoform 1, ACVR1/iso:1
organism-sequence
PR:P37172-1
activin receptor type-1 isoform 1 (mouse), mACVR1/iso:1
organism-modification
PR:000036436
activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse), mACVR1/iso:1/SigPep-/Phos:1
Yes
organism-sequence
PR:Q04771-1
activin receptor type-1 isoform 1 (human), hACVR1/iso:1
organism-modification
PR:000036435
activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human), hACVR1/iso:1/SigPep-/Phos:1
Yes
modification
PR:000021938
activin receptor type-1 isoform 1, signal peptide removed form, ACVR1/iso:1/SigPep-
modification
PR:000000411
activin receptor type-1 isoform 1, signal peptide removed phosphorylated form, ACVR1/iso:1/SigPep-/PhosRes+
modification
PR:000000524
activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1, ACVR1/iso:1/SigPep-/Phos:1
organism-modification
PR:000036435
activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (human), hACVR1/iso:1/SigPep-/Phos:1
Yes
organism-modification
PR:000036436
activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 (mouse), mACVR1/iso:1/SigPep-/Phos:1
Yes
gene
PR:000000068
activin receptor type-1B, ACVR1B
organism-gene
PR:P36896
activin receptor type-1B (human), hACVR1B
organism-sequence
PR:P36896-1
activin receptor type-1B isoform 1 (human), hACVR1B/iso:1
Yes
organism-modification
PR:000036437
activin receptor type-1B isoform 1 phosphorylated 1 (human), hACVR1B/iso:1/Phos:1
Yes
organism-modification
PR:000036438
activin receptor type-1B isoform 1 phosphorylated 2 (human), hACVR1B/iso:1/Phos:2
organism-sequence
PR:P36896-2
activin receptor type-1B isoform 2 (human), hACVR1B/iso:2
Yes
organism-sequence
PR:P36896-3
activin receptor type-1B isoform 3 (human), hACVR1B/iso:3
Yes
organism-sequence
PR:P36896-4
activin receptor type-1B isoform h4 (human), hACVR1B/iso:h4
organism-sequence
PR:P36896-5
activin receptor type-1B isoform h5 (human), hACVR1B/iso:h5
organism-modification
PR:000046256
activin receptor type-1B, signal peptide removed form (human), hACVR1B/SigPep-
organism-modification
PR:000046257
activin receptor type-1B, signal peptide removed phosphorylated 3 (human), hACVR1B/SigPep-/Phos:3
organism-gene
PR:P80202
activin receptor type-1B (rat), rACVR1B
organism-gene
PR:Q61271
activin receptor type-1B (mouse), mACVR1B
organism-sequence
PR:Q61271-1
activin receptor type-1B isoform 1 (mouse), mACVR1B/iso:1
sequence
PR:000000201
activin receptor type-1B isoform 1, ACVR1B/iso:1
organism-sequence
PR:P36896-1
activin receptor type-1B isoform 1 (human), hACVR1B/iso:1
Yes
organism-modification
PR:000036437
activin receptor type-1B isoform 1 phosphorylated 1 (human), hACVR1B/iso:1/Phos:1
Yes
organism-modification
PR:000036438
activin receptor type-1B isoform 1 phosphorylated 2 (human), hACVR1B/iso:1/Phos:2
organism-sequence
PR:Q61271-1
activin receptor type-1B isoform 1 (mouse), mACVR1B/iso:1
modification
PR:000000412
activin receptor type-1B isoform 1 phosphorylated form, ACVR1B/iso:1/PhosRes+
modification
PR:000000525
activin receptor type-1B isoform 1 phosphorylated 1, ACVR1B/iso:1/Phos:1
organism-modification
PR:000036437
activin receptor type-1B isoform 1 phosphorylated 1 (human), hACVR1B/iso:1/Phos:1
Yes
modification
PR:000000526
activin receptor type-1B isoform 1 phosphorylated 2, ACVR1B/iso:1/Phos:2
organism-modification
PR:000036438
activin receptor type-1B isoform 1 phosphorylated 2 (human), hACVR1B/iso:1/Phos:2
sequence
PR:000000202
activin receptor type-1B isoform 2, ACVR1B/iso:2
organism-sequence
PR:P36896-2
activin receptor type-1B isoform 2 (human), hACVR1B/iso:2
Yes
sequence
PR:000000203
activin receptor type-1B isoform 3, ACVR1B/iso:3
organism-sequence
PR:P36896-3
activin receptor type-1B isoform 3 (human), hACVR1B/iso:3
Yes
gene
PR:000000069
activin receptor type-1C, ACVR1C
organism-gene
PR:P70539
activin receptor type-1C (rat), rACVR1C
organism-gene
PR:Q8K348
activin receptor type-1C (mouse), mACVR1C
organism-sequence
PR:A2AJR5
activin receptor type-1C isoform 3 (mouse), mACVR1C/iso:3
organism-sequence
PR:A2AJR6
activin receptor type-1C isoform 2 (mouse), mACVR1C/iso:2
organism-sequence
PR:Q8K348-1
activin receptor type-1C isoform 1 (mouse), mACVR1C/iso:1
organism-gene
PR:Q8NER5
activin receptor type-1C (human), hACVR1C
organism-sequence
PR:Q8NER5-1
activin receptor type-1C isoform 1 (human), hACVR1C/iso:1
organism-modification
PR:000036439
activin receptor type-1C isoform 1 phosphorylated 1 (human), hACVR1C/iso:1/Phos:1
Yes
organism-sequence
PR:Q8NER5-2
activin receptor type-1C isoform 2 (human), hACVR1C/iso:2
organism-sequence
PR:Q8NER5-3
activin receptor type-1C isoform 3 (human), hACVR1C/iso:3
organism-sequence
PR:Q8NER5-4
activin receptor type-1C isoform 4 (human), hACVR1C/iso:4
Yes
organism-modification
PR:000060490
activin receptor type-1C, signal peptide removed form (human), hACVR1C/SigPep-
organism-modification
PR:000063700
activin receptor type-1C, signal peptide removed phosphorylated 1 (human), hACVR1C/SigPep-/Phos:1
sequence
PR:000000204
activin receptor type-1C isoform 1, ACVR1C/iso:1
organism-sequence
PR:Q8K348-1
activin receptor type-1C isoform 1 (mouse), mACVR1C/iso:1
organism-sequence
PR:Q8NER5-1
activin receptor type-1C isoform 1 (human), hACVR1C/iso:1
organism-modification
PR:000036439
activin receptor type-1C isoform 1 phosphorylated 1 (human), hACVR1C/iso:1/Phos:1
Yes
modification
PR:000000413
activin receptor type-1C isoform 1 phosphorylated form, ACVR1C/iso:1/PhosRes+
modification
PR:000000527
activin receptor type-1C isoform 1 phosphorylated 1, ACVR1C/iso:1/Phos:1
organism-modification
PR:000036439
activin receptor type-1C isoform 1 phosphorylated 1 (human), hACVR1C/iso:1/Phos:1
Yes
sequence
PR:000000205
activin receptor type-1C isoform 2, ACVR1C/iso:2
organism-sequence
PR:A2AJR6
activin receptor type-1C isoform 2 (mouse), mACVR1C/iso:2
organism-sequence
PR:Q8NER5-2
activin receptor type-1C isoform 2 (human), hACVR1C/iso:2
sequence
PR:000000206
activin receptor type-1C isoform 3, ACVR1C/iso:3
organism-sequence
PR:A2AJR5
activin receptor type-1C isoform 3 (mouse), mACVR1C/iso:3
organism-sequence
PR:Q8NER5-3
activin receptor type-1C isoform 3 (human), hACVR1C/iso:3
sequence
PR:000000207
activin receptor type-1C isoform 4, ACVR1C/iso:4
organism-sequence
PR:Q8NER5-4
activin receptor type-1C isoform 4 (human), hACVR1C/iso:4
Yes
gene
PR:000000126
serine/threonine-protein kinase receptor R3, ACVRL1
organism-gene
PR:P37023
serine/threonine-protein kinase receptor R3 (human), hACVRL1
organism-sequence
PR:000000317
serine/threonine-protein kinase receptor R3 sequence variant G48R (human), hACVRL1/var:G48R
Yes
organism-sequence
PR:000000318
serine/threonine-protein kinase receptor R3 sequence variant E215K (human), hACVRL1/var:E215K
Yes
organism-sequence
PR:000000319
serine/threonine-protein kinase receptor R3 sequence variant H222del (human), hACVRL1/var:H222del
Yes
organism-sequence
PR:000000320
serine/threonine-protein kinase receptor R3 sequence variant S233del (human), hACVRL1/var:S233del
Yes
organism-sequence
PR:000000321
serine/threonine-protein kinase receptor R3 sequence variant G223R (human), hACVRL1/var:G223R
Yes
organism-sequence
PR:000000322
serine/threonine-protein kinase receptor R3 sequence variant K229R (human), hACVRL1/var:K229R
Yes
organism-sequence
PR:000000323
serine/threonine-protein kinase receptor R3 sequence variant D254del (human), hACVRL1/var:D254del
Yes
organism-sequence
PR:000000324
serine/threonine-protein kinase receptor R3 sequence variant M376V (human), hACVRL1/var:M376V
Yes
organism-sequence
PR:000000325
serine/threonine-protein kinase receptor R3 sequence variant L285F (human), hACVRL1/var:L285F
Yes
organism-sequence
PR:000000326
serine/threonine-protein kinase receptor R3 sequence variant A306P (human), hACVRL1/var:A306P
Yes
organism-sequence
PR:000000327
serine/threonine-protein kinase receptor R3 sequence variant H314Y (human), hACVRL1/var:H314Y
Yes
organism-sequence
PR:000000328
serine/threonine-protein kinase receptor R3 sequence variant W50C (human), hACVRL1/var:W50C
Yes
organism-sequence
PR:000000329
serine/threonine-protein kinase receptor R3 sequence variant S333I (human), hACVRL1/var:S333I
Yes
organism-sequence
PR:000000330
serine/threonine-protein kinase receptor R3 sequence variant L337P (human), hACVRL1/var:L337P
Yes
organism-sequence
PR:000000331
serine/threonine-protein kinase receptor R3 sequence variant C344Y (human), hACVRL1/var:C344Y
Yes
organism-sequence
PR:000000332
serine/threonine-protein kinase receptor R3 sequence variant A347P (human), hACVRL1/var:A347P
Yes
organism-sequence
PR:000000333
serine/threonine-protein kinase receptor R3 sequence variant R374Q (human), hACVRL1/var:R374Q
Yes
organism-sequence
PR:000000334
serine/threonine-protein kinase receptor R3 sequence variant R374W (human), hACVRL1/var:R374W
Yes
organism-sequence
PR:000000335
serine/threonine-protein kinase receptor R3 sequence variant P378L (human), hACVRL1/var:P378L
Yes
organism-sequence
PR:000000336
serine/threonine-protein kinase receptor R3 sequence variant E379K (human), hACVRL1/var:E379K
Yes
organism-sequence
PR:000000337
serine/threonine-protein kinase receptor R3 sequence variant M376R (human), hACVRL1/var:M376R
Yes
organism-sequence
PR:000000338
serine/threonine-protein kinase receptor R3 sequence variant D397G (human), hACVRL1/var:D397G
Yes
organism-sequence
PR:000000339
serine/threonine-protein kinase receptor R3 sequence variant C51Y (human), hACVRL1/var:C51Y
Yes
organism-sequence
PR:000000340
serine/threonine-protein kinase receptor R3 sequence variant I398N (human), hACVRL1/var:I398N
Yes
organism-sequence
PR:000000341
serine/threonine-protein kinase receptor R3 sequence variant W399S (human), hACVRL1/var:W399S
Yes
organism-sequence
PR:000000342
serine/threonine-protein kinase receptor R3 sequence variant E407D (human), hACVRL1/var:E407D
Yes
organism-sequence
PR:000000343
serine/threonine-protein kinase receptor R3 sequence variant R411P (human), hACVRL1/var:R411P
Yes
organism-sequence
PR:000000344
serine/threonine-protein kinase receptor R3 sequence variant R411Q (human), hACVRL1/var:R411Q
Yes
organism-sequence
PR:000000345
serine/threonine-protein kinase receptor R3 sequence variant R411W (human), hACVRL1/var:R411W
Yes
organism-sequence
PR:000000346
serine/threonine-protein kinase receptor R3 sequence variant P424T (human), hACVRL1/var:P424T
Yes
organism-sequence
PR:000000347
serine/threonine-protein kinase receptor R3 sequence variant F425L (human), hACVRL1/var:F425L
Yes
organism-sequence
PR:000000348
serine/threonine-protein kinase receptor R3 sequence variant F425V (human), hACVRL1/var:F425V
Yes
organism-sequence
PR:000000349
serine/threonine-protein kinase receptor R3 sequence variant F425del (human), hACVRL1/var:F425del
Yes
organism-sequence
PR:000000350
serine/threonine-protein kinase receptor R3 sequence variant R67Q (human), hACVRL1/var:R67Q
Yes
organism-sequence
PR:000000351
serine/threonine-protein kinase receptor R3 sequence variant R479L (human), hACVRL1/var:R479L
Yes
organism-sequence
PR:000000352
serine/threonine-protein kinase receptor R3 sequence variant A482V (human), hACVRL1/var:A482V
Yes
organism-sequence
PR:000000353
serine/threonine-protein kinase receptor R3 sequence variant R484W (human), hACVRL1/var:R484W
Yes
organism-sequence
PR:000000354
serine/threonine-protein kinase receptor R3 sequence variant K487T (human), hACVRL1/var:K487T
Yes
organism-sequence
PR:000000355
serine/threonine-protein kinase receptor R3 sequence variant GA48/49EP (human), hACVRL1/var:GA48/49EP
Yes
organism-sequence
PR:000000356
serine/threonine-protein kinase receptor R3 sequence variant R67W (human), hACVRL1/var:R67W
Yes
organism-sequence
PR:000000357
serine/threonine-protein kinase receptor R3 sequence variant C77W (human), hACVRL1/var:C77W
Yes
organism-sequence
PR:000000358
serine/threonine-protein kinase receptor R3 sequence variant N96D (human), hACVRL1/var:N96D
Yes
organism-sequence
PR:000000359
serine/threonine-protein kinase receptor R3 sequence variant D179A (human), hACVRL1/var:D179A
Yes
organism-sequence
PR:000000360
serine/threonine-protein kinase receptor R3 sequence variant G211D (human), hACVRL1/var:G211D
Yes
organism-sequence
PR:P37023-1
serine/threonine-protein kinase receptor R3 isoform 1 (human), hACVRL1/iso:1
Yes
organism-modification
PR:000064347
serine/threonine-protein kinase receptor R3, signal peptide removed form (human), hACVRL1/SigPep-
organism-modification
PR:000067378
serine/threonine-protein kinase receptor R3 deaminated 1 (human), hACVRL1/Deam:1
organism-gene
PR:P80203
serine/threonine-protein kinase receptor R3 (rat), rACVRL1
organism-gene
PR:Q61288
serine/threonine-protein kinase receptor R3 (mouse), mACVRL1
organism-sequence
PR:Q61288-1
serine/threonine-protein kinase receptor R3 isoform 1 (mouse), mACVRL1/iso:1
Yes
sequence
PR:000000316
serine/threonine-protein kinase receptor R3 isoform 1, ACVRL1/iso:1
organism-sequence
PR:P37023-1
serine/threonine-protein kinase receptor R3 isoform 1 (human), hACVRL1/iso:1
Yes
organism-sequence
PR:Q61288-1
serine/threonine-protein kinase receptor R3 isoform 1 (mouse), mACVRL1/iso:1
Yes
Back to top
TGFBR2
forms found in complexes
TGFBR2
Component
Complexes
PR:000000523
TGFBR1/iso:1/SigPep-/Phos:1
PR:000025975
transforming growth factor beta type I receptor homodimeric complex phosphorylated form
PR:000025959
hTGFBR1/iso:1/SigPep-/Phos:1
PR:000025961
transforming growth factor beta type I receptor homodimeric complex phosphorylated form (human)
Back to top
Functional Annotation (PRO-centric view)
Switch to
GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000006
TGFBR2
TbetaR-I (BROAD) | TGF-beta receptor type I (BROAD) | TGF-beta type I receptor (BROAD) | TGFR-1 (BROAD) | transforming growth factor-beta receptor type I (BROAD)
"A protein that is a translation product of an evolutionary-related gene with core domain composition consisting of an extracellular Activin types I and II receptor domain (Pfam:PF01064), a transmembrane domain, a Transforming growth factor beta type I GS-motif (Pfam:PF08515) and a Protein kinase domain (Pfam:PF00069). The transforming growth factor-beta (TGF-beta) superfamily of receptors comprises two groups of transmembrane serine-threonine kinase receptors, so called type-1, and type-2 receptors, that are activated following engagement by members of the TGF-beta superfamily of ligands. These events specify diverse downstream responses that are differentially regulated by controlling access and activation of the ligands, their receptors and downstream substrates in different cell types. The type 1 receptors are characterized by the presence of a glycine-serine rich juxta-membrane domain (the GS-motif) that is critical for their activation." [PRO:CNA]
acts_upstream_of_or_within
GO:0007178
transmembrane receptor protein serine/threonine kinase signaling pathway
PIRSF:PIRSF037391
enables
GO:0005025
transforming growth factor beta receptor activity, type I
PIRSF:PIRSF037391
GO:0019838
growth factor binding
PANTHER:PTHR23255
;
PIRSF:PIRSF037391
PR:000000137
hBMPR1A/var:Y62D
UniProtKB:P36894, Tyr-62, CHEBI:29958 | BMP receptor type-1A sequence variant 1 (human)
"A bone morphogenetic protein receptor type-1A (human) that has an Asp residue at the position equivalent to Tyr-62 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Tyr-62, CHEBI:29958." [PMID:12417513, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050787
juvenile polyposis syndrome
PMID:12417513
PR:000000138
hBMPR1A/var:C82Y
UniProtKB:P36894, Cys-82, CHEBI:46858 | BMP receptor type-1A sequence variant 2 (human)
"A bone morphogenetic protein receptor type-1A (human) that has a Tyr residue at the position equivalent to Cys-82 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Cys-82, CHEBI:46858." [PMID:12417513, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050787
juvenile polyposis syndrome
PMID:12417513
PR:000000139
hBMPR1A/var:C124R
UniProtKB:P36894, Cys-124, CHEBI:29952 | BMP receptor type-1A sequence variant 3 (human)
"A bone morphogenetic protein receptor type-1A (human) that has an Arg residue at the position equivalent to Cys-124 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Cys-124, CHEBI:29952." [PMID:11536076, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050787
juvenile polyposis syndrome
PMID:11536076
PR:000000140
hBMPR1A/var:C130R
UniProtKB:P36894, Cys-130, CHEBI:29952 | BMP receptor type-1A sequence variant 4 (human)
"A bone morphogenetic protein receptor type-1A (human) that has an Arg residue at the position equivalent to Cys-130 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Cys-130, CHEBI:29952." [PMID:12136244, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050787
juvenile polyposis syndrome
PMID:12136244
PR:000000141
hBMPR1A/var:A338D
UniProtKB:P36894, Ala-338, CHEBI:29958 | BMP receptor type-1A sequence variant 5 (human)
"A bone morphogenetic protein receptor type-1A (human) that has an Asp residue at the position equivalent to Ala-338 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Ala-338, CHEBI:29958." [PMID:11536076, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:6457
Cowden syndrome
PMID:11536076
PR:000000142
hBMPR1A/var:C376Y
UniProtKB:P36894, Cys-376, CHEBI:46858 | BMP receptor type-1A sequence variant 6 (human)
"A bone morphogenetic protein receptor type-1A (human) that has a Tyr residue at the position equivalent to Cys-376 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Cys-376, CHEBI:46858." [PMID:11536076, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050787
juvenile polyposis syndrome
PMID:11536076
PR:000000143
hBMPR1A/var:R443C
UniProtKB:P36894, Arg-443, CHEBI:29950 | BMP receptor type-1A sequence variant 7 (human)
"A bone morphogenetic protein receptor type-1A (human) that has a Cys residue at the position equivalent to Arg-443 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Arg-443, CHEBI:29950." [PMID:12417513, PMID:17344846, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050787
juvenile polyposis syndrome
PMID:12417513
;
PMID:17344846
PR:000000144
hBMPR1A/var:M470T
UniProtKB:P36894, Met-470, CHEBI:30013 | BMP receptor type-1A sequence variant 8 (human)
"A bone morphogenetic protein receptor type-1A (human) that has a Thr residue at the position equivalent to Met-470 of the amino acid sequence represented by UniProtKB:P36894. UniProtKB:P36894, Met-470, CHEBI:30013." [PMID:12630959, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050787
juvenile polyposis syndrome
PMID:12630959
PR:000000146
hBMPR1B/var:I200K
UniProtKB:O00238, Ile-200, CHEBI:29967 | UniProtKB:O00238-1, Ile-200, CHEBI:29967 | BMP receptor type-1B sequence variant 1 (human)
"A bone morphogenetic protein receptor type-1B (human) that has a Lys residue at the position equivalent to Ile-200 of the amino acid sequence represented by UniProtKB:O00238-1. Example: UniProtKB:O00238-1, Ile-200, CHEBI:29967." [PMID:14523231, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050581
brachydactyly
PMID:14523231
enables
NOT
GO:0004674
protein serine/threonine kinase activity
PMID:14523231
located_in
GO:0009986
cell surface
PMID:14523231
PR:000000147
hBMPR1B/var:R486W
UniProtKB:O00238, Arg-486, CHEBI:29954 | UniProtKB:O00238-1, Arg-486, CHEBI:29954 | BMP receptor type-1B sequence variant 2 (human)
"A bone morphogenetic protein receptor type-1B (human) that has a Trp residue at the position equivalent to Arg-486 of the amino acid sequence represented by UniProtKB:O00238-1. Example: UniProtKB:O00238-1, Arg-486, CHEBI:29954." [PMID:14523231, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050581
brachydactyly
PMID:14523231
enables
GO:0004674
protein serine/threonine kinase activity
PMID:14523231
located_in
GO:0009986
cell surface
PMID:14523231
PR:000000186
hTGFBR1/var:T200I
UniProtKB:P36897, Thr-200, CHEBI:30009 | UniProtKB:P36897-1, Thr-200, CHEBI:30009 | TGF-beta receptor type-1 sequence variant 1 (human)
"A TGF-beta receptor type-1 (human) that has an Ile residue at the position equivalent to Thr-200 of the amino acid sequence represented by UniProtKB:P36897. UniProtKB:P36897, Thr-200, CHEBI:30009." [PMID:15731757, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050466
Loeys-Dietz syndrome
PMID:15731757
PR:000000187
hTGFBR1/var:10
TGFBR1*10A
"A TGF-beta receptor type-1 (human) that has an insertion of an Ala residue at the position equivalent to Ala-26 of the amino acid sequence represented by UniProtKB:P36897." [PRO:CNA, PRO:DAN]
located_in
SO:0001605
amino_acid_insertion
PMID:9661882
PR:000000188
hTGFBR1/var:11
UniProtKB:P36897, 1-23, 27-503 | UniProtKB:P36897-1, 1-23, 27-503 | TGFBR1*6A (human)
"A TGF-beta receptor type-1 (human) that has a three-residue deletion at the position equivalent to region 24-26 of the amino acid sequence represented by UniProtKB:P36897-1. UniProtKB:P36897, 1-23, 27-503." [PRO:CNA, PRO:DAN]
acts_upstream_of_or_within
GO:0007165
signal transduction
PMID:9661882
GO:0007179
transforming growth factor beta receptor signaling pathway
PMID:9661882
PR:000000189
hTGFBR1/var:K232E
UniProtKB:P36897, Lys-232, CHEBI:29972 | UniProtKB:P36897-1, Lys-232, CHEBI:29972 | TGF-beta receptor type-1 sequence variant 2 (human)
"A TGF-beta receptor type-1 (human) that has a Glu residue at the position equivalent to Lys-232 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Lys-232, CHEBI:29972." [PMID:16928994, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050466
Loeys-Dietz syndrome
PMID:16928994
PR:000000190
hTGFBR1/var:S241L
UniProtKB:P36897, Ser-241, CHEBI:30006 | UniProtKB:P36897-1, Ser-241, CHEBI:30006 | TGF-beta receptor type-1 sequence variant 3 (human)
"A TGF-beta receptor type-1 (human) that has a Leu residue at the position equivalent to Ser-241 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Ser-241, CHEBI:30006." [PMID:16596670, PMID:16791849, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050466
Loeys-Dietz syndrome
PMID:16596670
;
PMID:16791849
PR:000000191
hTGFBR1/var:N267H
UniProtKB:P36897, Asn-267, CHEBI:29979 | UniProtKB:P36897-1, Asn-267, CHEBI:29979 | TGF-beta receptor type-1 sequence variant 4 (human)
"A TGF-beta receptor type-1 (human) that has a His residue at the position equivalent to Asn-267 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Asn-267, CHEBI:29979." [PMID:16791849, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050466
Loeys-Dietz syndrome
PMID:16791849
PR:000000192
hTGFBR1/var:M318R
UniProtKB:P36897, Met-318, CHEBI:29952 | UniProtKB:P36897-1, Met-318, CHEBI:29952 | TGF-beta receptor type-1 sequence variant 5 (human)
"A TGF-beta receptor type-1 (human) that has an Arg residue at the position equivalent to Met-318 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Met-318, CHEBI:29952." [PMID:15731757, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050466
Loeys-Dietz syndrome
PMID:15731757
PR:000000193
hTGFBR1/var:D400G
UniProtKB:P36897, Asp-400, CHEBI:29947 | UniProtKB:P36897-1, Asp-400, CHEBI:29947 | TGF-beta receptor type-1 sequence variant 6 (human)
"A TGF-beta receptor type-1 (human) that has a Gly residue at the position equivalent to Asp-400 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Asp-400, CHEBI:29947." [PMID:15731757, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050466
Loeys-Dietz syndrome
PMID:15731757
PR:000000194
hTGFBR1/var:R487P
UniProtKB:P36897, Arg-487, CHEBI:50342 | UniProtKB:P36897-1, Arg-487, CHEBI:50342 | TGF-beta receptor type-1 sequence variant 7 (human)
"A TGF-beta receptor type-1 (human) that has a Pro residue at the position equivalent to Arg-487 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Arg-487, CHEBI:50342." [PMID:15731757, PMID:16928994, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:14756
vascular type Ehlers-Danlos syndrome
PMID:15731757
;
PMID:16928994
PR:000000195
hTGFBR1/var:R487E
UniProtKB:P36897, Arg-487, CHEBI:29972 | UniProtKB:P36897-1, Arg-487, CHEBI:29972 | TGF-beta receptor type-1 sequence variant 8 (human)
"A TGF-beta receptor type-1 (human) that has a Glu residue at the position equivalent to Arg-487 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Arg-487, CHEBI:29972." [PMID:16791849, PMID:16928994, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:0050466
Loeys-Dietz syndrome
PMID:16791849
;
PMID:16928994
PR:000000196
hTGFBR1/var:R487W
UniProtKB:P36897, Arg-487, CHEBI:29954 | UniProtKB:P36897-1, Arg-487, CHEBI:29954 | TGF-beta receptor type-1 sequence variant 9 (human)
"A TGF-beta receptor type-1 (human) that has a Trp residue at the position equivalent to Arg-487 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Arg-487, CHEBI:29954." [PMID:16928994, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:14756
vascular type Ehlers-Danlos syndrome
PMID:16928994
PR:000000200
hACVR1/var:R206H
UniProtKB:Q04771, Arg-206, CHEBI:29979 | activin receptor type-1 sequence variant 1 (human)
"An activin receptor type-1 (human) that has a His residue at the position equivalent to Arg-206 of the amino acid sequence represented by UniProtKB:Q04771. This variation is located within the GS-motif. UniProtKB:Q04771, Arg-206, CHEBI:29979." [PMID:8397373, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:13374
fibrodysplasia ossificans progressiva
PMID:8397373
located_in
GO:0005886
plasma membrane
PMID:8397373
PR:000000317
hACVRL1/var:G48R
UniProtKB:P37023, Gly-48, CHEBI:29952 | serine/threonine-protein kinase receptor R3 sequence variant 1 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has an Arg residue at the position equivalent to Gly-48 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-48, CHEBI:29952." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000318
hACVRL1/var:E215K
UniProtKB:P37023, Glu-215, CHEBI:29967 | serine/threonine-protein kinase receptor R3 sequence variant 10 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Lys residue at the position equivalent to Glu-215 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Glu-215, CHEBI:29967." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000319
hACVRL1/var:H222del
UniProtKB:P37023, 22-221, 223-503 | serine/threonine-protein kinase receptor R3 sequence variant 11 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to His-222 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-221, 223-503." [PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
UniProtKB_VAR:VAR_006209
located_in
GO:0005886
plasma membrane
PMID:14684682
PR:000000320
hACVRL1/var:S233del
UniProtKB:P37023, 22-232, 234-503 | serine/threonine-protein kinase receptor R3 sequence variant 12 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Ser-233 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-232, 234-503." [PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
UniProtKB_VAR:VAR_026792
PR:000000321
hACVRL1/var:G223R
UniProtKB:P37023, Gly-223, CHEBI:29952 | serine/threonine-protein kinase receptor R3 sequence variant 13 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has an Arg residue at the position equivalent to Gly-223 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-223, CHEBI:29952." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000322
hACVRL1/var:K229R
UniProtKB:P37023, Lys-229, CHEBI:29952 | serine/threonine-protein kinase receptor R3 sequence variant 14 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has an Arg residue at the position equivalent to Lys-229 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Lys-229, CHEBI:29952." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000323
hACVRL1/var:D254del
UniProtKB:P37023, 22-253, 255-503 | serine/threonine-protein kinase receptor R3 sequence variant 15 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Asp-254 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-253, 255-503." [PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
UniProtKB_VAR:VAR_026793
enables
NOT
GO:0004675
transmembrane receptor protein serine/threonine kinase activity
PMID:14684682
located_in
GO:0005783
endoplasmic reticulum
PMID:14684682
PR:000000324
hACVRL1/var:M376V
UniProtKB:P37023, Met-376, CHEBI:30015 | serine/threonine-protein kinase receptor R3 sequence variant 16 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Val residue at the position equivalent to Met-376 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Met-376, CHEBI:30015." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000325
hACVRL1/var:L285F
UniProtKB:P37023, Leu-285, CHEBI:29997 | serine/threonine-protein kinase receptor R3 sequence variant 17 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Phe residue at the position equivalent to Leu-285 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Leu-285, CHEBI:29997." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000326
hACVRL1/var:A306P
UniProtKB:P37023, Ala-306, CHEBI:50342 | serine/threonine-protein kinase receptor R3 sequence variant 18 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Pro residue at the position equivalent to Ala-306 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ala-306, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000327
hACVRL1/var:H314Y
UniProtKB:P37023, His-314, CHEBI:46858 | serine/threonine-protein kinase receptor R3 sequence variant 19 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Tyr residue at the position equivalent to His-314 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, His-314, CHEBI:46858." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000328
hACVRL1/var:W50C
UniProtKB:P37023, Trp-50, CHEBI:29950 | serine/threonine-protein kinase receptor R3 sequence variant 2 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Cys residue at the position equivalent to Trp-50 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Trp-50, CHEBI:29950." [PMID:10767348, PMID:14684682, PMID:9245985, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:10767348
;
PMID:14684682
;
PMID:9245985
enables
NOT
GO:0004675
transmembrane receptor protein serine/threonine kinase activity
PMID:14684682
located_in
GO:0005783
endoplasmic reticulum
PMID:14684682
PR:000000329
hACVRL1/var:S333I
UniProtKB:P37023, Ser-333, CHEBI:30009 | serine/threonine-protein kinase receptor R3 sequence variant 20 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has an Ile residue at the position equivalent to Ser-333 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ser-333, CHEBI:30009." [PMID:10767348, PMID:14684682, PMID:9245985, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:10767348
;
PMID:14684682
;
PMID:9245985
enables
NOT
GO:0004675
transmembrane receptor protein serine/threonine kinase activity
PMID:14684682
located_in
GO:0005783
endoplasmic reticulum
PMID:14684682
PR:000000330
hACVRL1/var:L337P
UniProtKB:P37023, Leu-337, CHEBI:50342 | serine/threonine-protein kinase receptor R3 sequence variant 21 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Pro residue at the position equivalent to Leu-337 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Leu-337, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000331
hACVRL1/var:C344Y
UniProtKB:P37023, Cys-344, CHEBI:46858 | serine/threonine-protein kinase receptor R3 sequence variant 22 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Tyr residue at the position equivalent to Cys-344 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Cys-344, CHEBI:46858." [PMID:10767348, PMID:14684682, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:10767348
;
PMID:14684682
enables
NOT
GO:0004675
transmembrane receptor protein serine/threonine kinase activity
PMID:14684682
located_in
GO:0005783
endoplasmic reticulum
PMID:14684682
PR:000000332
hACVRL1/var:A347P
UniProtKB:P37023, Ala-347, CHEBI:50342 | serine/threonine-protein kinase receptor R3 sequence variant 23 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Pro residue at the position equivalent to Ala-347 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ala-347, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000333
hACVRL1/var:R374Q
UniProtKB:P37023, Arg-374, CHEBI:30011 | serine/threonine-protein kinase receptor R3 sequence variant 24 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Gln residue at the position equivalent to Arg-374 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-374, CHEBI:30011." [PMID:14684682, PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:14684682
;
PMID:15024723
enables
NOT
GO:0004675
transmembrane receptor protein serine/threonine kinase activity
PMID:14684682
located_in
GO:0005783
endoplasmic reticulum
PMID:14684682
PR:000000334
hACVRL1/var:R374W
UniProtKB:P37023, Arg-374, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 25 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-374 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-374, CHEBI:29954." [PMID:11170071, PMID:14684682, PMID:15712270, PMID:9245985, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:11170071
;
PMID:14684682
;
PMID:15712270
;
PMID:9245985
PR:000000335
hACVRL1/var:P378L
UniProtKB:P37023, Pro-378, CHEBI:30006 | serine/threonine-protein kinase receptor R3 sequence variant 26 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Leu residue at the position equivalent to Pro-378 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Pro-378, CHEBI:30006." [PMID:14684682, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:14684682
enables
NOT
GO:0004675
transmembrane receptor protein serine/threonine kinase activity
PMID:14684682
located_in
GO:0005783
endoplasmic reticulum
PMID:14684682
PR:000000336
hACVRL1/var:E379K
UniProtKB:P37023, Glu-379, CHEBI:29967 | serine/threonine-protein kinase receptor R3 sequence variant 27 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Lys residue at the position equivalent to Glu-379 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Glu-379, CHEBI:29967." [PMID:15024723, PMID:15712270, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
;
PMID:15712270
PR:000000337
hACVRL1/var:M376R
UniProtKB:P37023, Met-376, CHEBI:29952 | serine/threonine-protein kinase receptor R3 sequence variant 28 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has an Arg residue at the position equivalent to Met-376 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Met-376, CHEBI:29952." [PMID:8640225, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:8640225
PR:000000338
hACVRL1/var:D397G
UniProtKB:P37023, Asp-397, CHEBI:29947 | serine/threonine-protein kinase receptor R3 sequence variant 29 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Gly residue at the position equivalent to Asp-397 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asp-397, CHEBI:29947." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000339
hACVRL1/var:C51Y
UniProtKB:P37023, Cys-51, CHEBI:46858 | serine/threonine-protein kinase receptor R3 sequence variant 3 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Tyr residue at the position equivalent to Cys-51 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Cys-51, CHEBI:46858." [PMID:11170071, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:11170071
PR:000000340
hACVRL1/var:I398N
UniProtKB:P37023, Ile-398, CHEBI:50347 | serine/threonine-protein kinase receptor R3 sequence variant 30 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has an Asn residue at the position equivalent to Ile-398 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ile-398, CHEBI:50347." [PMID:11170071, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:11170071
PR:000000341
hACVRL1/var:W399S
UniProtKB:P37023, Trp-399, CHEBI:29999 | serine/threonine-protein kinase receptor R3 sequence variant 31 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Ser residue at the position equivalent to Trp-399 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Trp-399, CHEBI:29999." [PMID:11170071, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:11170071
PR:000000342
hACVRL1/var:E407D
UniProtKB:P37023, Glu-407, CHEBI:29958 | serine/threonine-protein kinase receptor R3 sequence variant 32 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has an Asp residue at the position equivalent to Glu-407 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Glu-407, CHEBI:29958." [PMID:10767348, PMID:15712270, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:10767348
;
PMID:15712270
PR:000000343
hACVRL1/var:R411P
UniProtKB:P37023, Arg-411, CHEBI:50342 | serine/threonine-protein kinase receptor R3 sequence variant 33 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Pro residue at the position equivalent to Arg-411 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-411, CHEBI:50342." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000344
hACVRL1/var:R411Q
UniProtKB:P37023, Arg-411, CHEBI:30011 | serine/threonine-protein kinase receptor R3 sequence variant 34 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Gln residue at the position equivalent to Arg-411 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-411, CHEBI:30011." [PMID:14684682, PMID:15024723, PMID:8640225, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:14684682
;
PMID:15024723
;
PMID:8640225
enables
NOT
GO:0004675
transmembrane receptor protein serine/threonine kinase activity
PMID:14684682
located_in
GO:0005783
endoplasmic reticulum
PMID:14684682
PR:000000345
hACVRL1/var:R411W
UniProtKB:P37023, Arg-411, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 35 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-411 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-411, CHEBI:29954." [PMID:11484689, PMID:15024723, PMID:15712270, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:11484689
;
PMID:15024723
;
PMID:15712270
PR:000000346
hACVRL1/var:P424T
UniProtKB:P37023, Pro-424, CHEBI:30013 | serine/threonine-protein kinase receptor R3 sequence variant 36 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Thr residue at the position equivalent to Pro-424 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Pro-424, CHEBI:30013." [PMID:9245985, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:9245985
PR:000000347
hACVRL1/var:F425L
UniProtKB:P37023, Phe-425, CHEBI:30006 | serine/threonine-protein kinase receptor R3 sequence variant 37 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Leu residue at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Phe-425, CHEBI:30006." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000348
hACVRL1/var:F425V
UniProtKB:P37023, Phe-425, CHEBI:30015 | serine/threonine-protein kinase receptor R3 sequence variant 38 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Val residue at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Phe-425, CHEBI:30015." [PMID:15712270, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15712270
PR:000000349
hACVRL1/var:F425del
UniProtKB:P37023, 22-423, 425-503 | serine/threonine-protein kinase receptor R3 sequence variant 39 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-423, 425-503." [PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
UniProtKB_VAR:VAR_026812
PR:000000350
hACVRL1/var:R67Q
UniProtKB:P37023, Arg-67, CHEBI:30011 | serine/threonine-protein kinase receptor R3 sequence variant 4 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Gln residue at the position equivalent to Arg-67 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-67, CHEBI:30011." [PMID:14684682, PMID:9245985, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:14684682
;
PMID:9245985
enables
NOT
GO:0004675
transmembrane receptor protein serine/threonine kinase activity
PMID:14684682
located_in
GO:0005783
endoplasmic reticulum
PMID:14684682
PR:000000351
hACVRL1/var:R479L
UniProtKB:P37023, Arg-479, CHEBI:30006 | serine/threonine-protein kinase receptor R3 sequence variant 40 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Leu residue at the position equivalent to Arg-479 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-479, CHEBI:30006." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000352
hACVRL1/var:A482V
UniProtKB:P37023, Ala-482, CHEBI:30015 | serine/threonine-protein kinase receptor R3 sequence variant 41 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Val residue at the position equivalent to Ala-482 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Ala-482, CHEBI:30015." [PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15024723
PR:000000353
hACVRL1/var:R484W
UniProtKB:P37023, Arg-484, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 42 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-484 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-484, CHEBI:29954." [PMID:11484689, PMID:15024723, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:11484689
;
PMID:15024723
PR:000000354
hACVRL1/var:K487T
UniProtKB:P37023, Lys-487, CHEBI:30013 | serine/threonine-protein kinase receptor R3 sequence variant 43 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Thr residue at the position equivalent to Lys-487 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Lys-487, CHEBI:30013." [PMID:14684682, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:14684682
located_in
GO:0005886
plasma membrane
PMID:14684682
PR:000000355
hACVRL1/var:GA48/49EP
UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217 | serine/threonine-protein kinase receptor R3 sequence variant 44 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has Glu and Pro residues at positions equivalent to Gly-48 and Ala-49 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-48, CHEBI:29972|Ala-49, CHEBI:46217." [PMID:10767348, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
UniProtKB_VAR:VAR_026784
PR:000000356
hACVRL1/var:R67W
UniProtKB:P37023, Arg-67, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 5 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Arg-67 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Arg-67, CHEBI:29954." [PMID:15712270, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:15712270
PR:000000357
hACVRL1/var:C77W
UniProtKB:P37023, Cys-77, CHEBI:29954 | serine/threonine-protein kinase receptor R3 sequence variant 6 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has a Trp residue at the position equivalent to Cys-77 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Cys-77, CHEBI:29954." [PMID:10694922, PMID:14684682, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:10694922
;
PMID:14684682
enables
NOT
GO:0004675
transmembrane receptor protein serine/threonine kinase activity
PMID:14684682
located_in
GO:0005783
endoplasmic reticulum
PMID:14684682
PR:000000358
hACVRL1/var:N96D
UniProtKB:P37023, Asn-96, CHEBI:29958 | serine/threonine-protein kinase receptor R3 sequence variant 7 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has an Asp residue at the position equivalent to Asn-96 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asn-96, CHEBI:29958." [PMID:10694922, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:10694922
PR:000000359
hACVRL1/var:D179A
UniProtKB:P37023, Asp-179, CHEBI:46217 | serine/threonine-protein kinase receptor R3 sequence variant 8 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has an Ala residue at the position equivalent to Asp-179 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Asp-179, CHEBI:46217." [PMID:14684682, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:14684682
located_in
GO:0009986
cell surface
PMID:14684682
PR:000000360
hACVRL1/var:G211D
UniProtKB:P37023, Gly-211, CHEBI:29958 | serine/threonine-protein kinase receptor R3 sequence variant 9 (human)
"A serine/threonine-protein kinase receptor R3 (human) that has an Asp residue at the position equivalent to Gly-211 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Gly-211, CHEBI:29958." [PMID:14684682, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:1270
hereditary hemorrhagic telangiectasia
PMID:14684682
enables
NOT
GO:0004675
transmembrane receptor protein serine/threonine kinase activity
PMID:14684682
located_in
GO:0005783
endoplasmic reticulum
PMID:14684682
PR:000025959
hTGFBR1/iso:1/SigPep-/Phos:1
UniProtKB:P36897-1, 34-503, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047 | PRO_0000024423, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047
"A TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 in human. Phosphorylation occurs by the action of active TGF-beta receptor type-2 within the GS-motifs. UniProtKB:P36897-1, 34-503, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047." [PMID:7774578, PMID:8947046]
acts_upstream_of_or_within
GO:0006468
protein phosphorylation
PMID:7774578
GO:0007165
signal transduction
PMID:8242743
GO:0007181
transforming growth factor beta receptor complex assembly
PMID:8947046
enables
GO:0005025
transforming growth factor beta receptor activity, type I
PMID:7774578
;
PMID:8947046
located_in
GO:0005886
plasma membrane
PMID:8947046
PR:000036422
hBMPR1A/iso:1/Phos:1
"A BMP receptor type-1A isoform 1 phosphorylated 1 in human." [PMID:10712517, PMID:12065756, PMID:12829744, PMID:15940369, PRO:CNA]
acts_upstream_of_or_within
GO:0006468
protein phosphorylation
PMID:12065756
GO:0030509
BMP signaling pathway
PMID:12829744
enables
GO:0004674
protein serine/threonine kinase activity
PMID:12829744
located_in
GO:0009986
cell surface
PMID:10712517
GO:0043235
receptor complex
PMID:12829744
;
PMID:15940369
PR:000036423
mBMPR1A/iso:1/Phos:1
"A BMP receptor type-1A isoform 1 phosphorylated 1 in mouse." [PMID:10814522, PMID:9738003, PRO:CNA]
enables
GO:0046332
SMAD binding
PMID:10814522
;
PMID:9738003
PR:000036425
mBMPR1B/iso:1/Phos:1
"A BMP receptor type-1B isoform 1 phosphorylated 1 in mouse." [PMID:10631181, PMID:10712517, PMID:14523231, PRO:CNA]
acts_upstream_of_or_within
GO:0001501
skeletal system development
PMID:14523231
GO:0001502
cartilage condensation
PMID:10631181
;
PMID:14523231
GO:0035108
limb morphogenesis
PMID:14523231
located_in
GO:0009986
cell surface
PMID:10712517
;
PMID:14523231
GO:0043235
receptor complex
PMID:10712517
PR:000036426
hBMPR1B/iso:1/Phos:1
"A BMP receptor type-1B isoform 1 phosphorylated 1 in human." [PMID:10051328, PMID:14523231, PRO:CNA]
acts_upstream_of_or_within
GO:0030509
BMP signaling pathway
PMID:10051328
GO:0045597
positive regulation of cell differentiation
PMID:14523231
PR:000036432
hTGFBR1/iso:1/SigPep-
UniProtKB:P36897-1, 34-503
"A TGF-beta receptor type-1 isoform 1, signal peptide removed form in human. UniProtKB:P36897-1, 34-503." [PMID:8242743, PRO:CNA]
acts_upstream_of_or_within
GO:0007165
signal transduction
PMID:8242743
GO:0007181
transforming growth factor beta receptor complex assembly
PMID:8242743
located_in
GO:0005886
plasma membrane
PMID:8242743
PR:000036434
mTGFBR1/iso:1/SigPep-/Phos:1
UniProtKB:Q64729-1, 23-503, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047
"A TGF-beta receptor type-1 isoform 1, signal peptide removed phosphorylated 1 in mouse. UniProtKB:Q64729-1, 23-503, Ser-165/Ser-187/Ser-189/Ser-191, MOD:00046|Thr-185/Thr-186, MOD:00047." [PMID:12065756, PRO:CNA]
acts_upstream_of_or_within
GO:0006468
protein phosphorylation
PMID:12065756
PR:000036435
hACVR1/iso:1/SigPep-/Phos:1
"An activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 in human." [PMID:8242742, PMID:8389764, PMID:8397373, PRO:CNA]
acts_upstream_of_or_within
GO:0007178
transmembrane receptor protein serine/threonine kinase signaling pathway
PMID:8242742
;
PMID:8389764
enables
GO:0004675
transmembrane receptor protein serine/threonine kinase activity
PMID:8389764
GO:0048185
activin binding
PMID:8242742
located_in
GO:0005886
plasma membrane
PMID:8242742
;
PMID:8397373
GO:0048179
activin receptor complex
PMID:8242742
PR:000036436
mACVR1/iso:1/SigPep-/Phos:1
"An activin receptor type-1 isoform 1, signal peptide removed phosphorylated 1 in mouse." [PMID:11376112, PRO:CNA]
acts_upstream_of_or_within
GO:0007178
transmembrane receptor protein serine/threonine kinase signaling pathway
PMID:11376112
PR:000036437
hACVR1B/iso:1/Phos:1
"An activin receptor type-1B isoform 1 phosphorylated 1 in human." [PMID:12065756, PMID:12665502, PMID:8397373, PMID:8622651, PRO:CNA]
acts_upstream_of_or_within
GO:0006468
protein phosphorylation
PMID:12065756
enables
GO:0016361
activin receptor activity, type I
PMID:8622651
GO:0046332
SMAD binding
PMID:12065756
located_in
GO:0005886
plasma membrane
PMID:8397373
GO:0009986
cell surface
PMID:12665502
PR:000036439
hACVR1C/iso:1/Phos:1
"An activin receptor type-1C isoform 1 phosphorylated 1 in human." [PMID:12063393, PMID:12065756, PMID:12606401, PMID:15196700, PMID:15531507, PRO:CNA]
acts_upstream_of_or_within
GO:0006468
protein phosphorylation
PMID:12065756
GO:0042981
regulation of apoptotic process
PMID:15531507
enables
GO:0016361
activin receptor activity, type I
PMID:12063393
;
PMID:15196700
located_in
GO:0005886
plasma membrane
PMID:12606401
GO:0048179
activin receptor complex
PMID:15531507
PR:O00238-1
hBMPR1B/iso:1
"A BMP receptor type-1B isoform 1 that is encoded in the genome of human." [PRO:CNA]
acts_upstream_of_or_within
GO:0030509
BMP signaling pathway
PMID:10051328
PR:P36894-1
hBMPR1A/iso:1
"A BMP receptor type-1A isoform 1 that is encoded in the genome of human." [PRO:CNA]
located_in
GO:0016020
membrane
PMID:8397373
GO:0043235
receptor complex
PMID:15940369
PR:P36895-1
mBMPR1A/iso:1
"A BMP receptor type-1A isoform 1 that is encoded in the genome of mouse." [PRO:CNA]
acts_upstream_of_or_within
GO:0030509
BMP signaling pathway
PMID:10814522
PR:P36896-1
hACVR1B/iso:1
activin receptor type-1B isoform SKR2-1 (human)
"An activin receptor type-1B isoform 1 that is encoded in the genome of human." [PRO:CNA]
acts_upstream_of_or_within
GO:0007178
transmembrane receptor protein serine/threonine kinase signaling pathway
PMID:11069203
PR:P36896-2
hACVR1B/iso:2
activin receptor type-1B isoform SKR2-2 (human)
"An activin receptor type-1B isoform 2 that is encoded in the genome of human." [PRO:CNA]
enables
NOT
GO:0016361
activin receptor activity, type I
PMID:11117535
;
PMID:8636304
located_in
GO:0005886
plasma membrane
PMID:11117535
;
PMID:8636304
PR:P36896-3
hACVR1B/iso:3
activin receptor type-1B isoform SKR2-3 (human)
"An activin receptor type-1B isoform 3 that is encoded in the genome of human." [PRO:CNA]
enables
NOT
GO:0016361
activin receptor activity, type I
PMID:11117535
;
PMID:8636304
located_in
GO:0005886
plasma membrane
PMID:11117535
;
PMID:8636304
PR:P36897-1
hTGFBR1/iso:1
"A TGF-beta receptor type-1 isoform 1 that is encoded in the genome of human." [PRO:CNA]
acts_upstream_of_or_within
GO:0007165
signal transduction
PMID:8242743
PR:P36898-1
mBMPR1B/iso:1
"A BMP receptor type-1B isoform 1 that is encoded in the genome of mouse." [PRO:CNA]
acts_upstream_of_or_within
GO:0001501
skeletal system development
PMID:14523231
GO:0001502
cartilage condensation
PMID:14523231
GO:0035108
limb morphogenesis
PMID:14523231
located_in
GO:0009986
cell surface
PMID:10712517
PR:P37023-1
hACVRL1/iso:1
"A serine/threonine-protein kinase receptor R3 isoform 1 that is encoded in the genome of human." [PRO:CNA]
acts_upstream_of_or_within
GO:0001525
angiogenesis
PMID:12453878
GO:0006468
protein phosphorylation
PMID:9920917
GO:0008015
blood circulation
PMID:9245985
enables
GO:0004675
transmembrane receptor protein serine/threonine kinase activity
PMID:8242742
;
PMID:9245985
GO:0005025
transforming growth factor beta receptor activity, type I
PMID:8242742
GO:0016361
activin receptor activity, type I
PMID:8242742
GO:0046332
SMAD binding
PMID:9920917
GO:0048185
activin binding
PMID:8242742
GO:0050431
transforming growth factor beta binding
PMID:8242742
located_in
GO:0005886
plasma membrane
PMID:8242742
;
PMID:8397373
GO:0009986
cell surface
PMID:8242742
PR:Q61288-1
mACVRL1/iso:1
"A serine/threonine-protein kinase receptor R3 isoform 1 that is encoded in the genome of mouse." [PRO:CNA]
acts_upstream_of_or_within
GO:0001525
angiogenesis
PMID:10716993
GO:0006468
protein phosphorylation
PMID:14580334
GO:0007179
transforming growth factor beta receptor signaling pathway
PMID:14580334
enables
GO:0046332
SMAD binding
PMID:14580334
PR:Q8NER5-4
hACVR1C/iso:4
activin receptor type-1C isoform Truncated (human)
"An activin receptor type-1C isoform 4 that is encoded in the genome of human." [PRO:CNA]
located_in
GO:0005886
plasma membrane
PMID:12606401
