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Protein Ontology report - TGF-beta 1 sequence variant R218H (human)
PR:000000401 -
http://purl.obolibrary.org/obo/PR_000000401
Protein Forms
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000401
PRO name
TGF-beta 1 sequence variant R218H (human)
Synonyms
PRO-Short-label
:
EXACT:
hTGFB1/var:R218H
PRO-proteoform-std
:
EXACT:
UniProtKB:P01137
, Arg-218,
CHEBI:29979
Other
:
EXACT:
TGF-beta 1 sequence variant 4 (human)
Definition
"A transforming growth factor beta-1 (human) that has a His residue at the position equivalent to Arg-218 of the amino acid sequence represented by
UniProtKB:P01137
.
UniProtKB:P01137
, Arg-218,
CHEBI:29979
." [
PMID:11062463
,
PMID:12493741
, PRO:CNA, PRO:DAN]
PRO Category
organism-sequence
Parent
PR:P01137
transforming growth factor beta-1 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Terms by PRO Category
Organism-Independent
Organism-Specific
Category
Number of Terms
Category
Number of Terms
Sequence
0
Organism-Sequence
1
Modification
0
Organism-Modification
3
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_017609
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Protein Forms
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Extended View
Category
PRO Form Name
Ann.
Has Annotation?
Comp.
In Complex?
organism-sequence
PR:000000401
TGF-beta 1 sequence variant R218H (human), hTGFB1/var:R218H
Yes
organism-modification
PR:000021907
TGF-beta 1 sequence variant R218H, signal peptide removed form (human), hTGFB1/var:R218H/SigPep-
organism-modification
PR:000000627
TGF-beta 1 sequence variant R218H cleaved 1 (human), hTGFB1/var:R218H/Clv:1
Yes
organism-modification
PR:000000628
TGF-beta 1 sequence variant R218H cleaved 2 (human), hTGFB1/var:R218H/Clv:2
Yes
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Functional Annotation (PRO-centric view)
Switch to
GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000401
hTGFB1/var:R218H
UniProtKB:P01137, Arg-218, CHEBI:29979 | TGF-beta 1 sequence variant 4 (human)
"A transforming growth factor beta-1 (human) that has a His residue at the position equivalent to Arg-218 of the amino acid sequence represented by UniProtKB:P01137. UniProtKB:P01137, Arg-218, CHEBI:29979." [PMID:11062463, PMID:12493741, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:4997
Camurati-Engelmann disease
PMID:12493741
PR:000000627
hTGFB1/var:R218H/Clv:1
UniProtKB:P01137, 279-390, Arg-218, CHEBI:29979 | TGF-beta 1 sequence variant 4 cleaved 1 (human)
"A TGF-beta 1 sequence variant R218H, signal peptide removed form (human) that has been processed by subsequent removal of the latency associated peptide (LAP). UniProtKB:P01137, 279-390, Arg-218, CHEBI:29979." [PMID:11278244, PRO:CNA, PRO:DAN]
acts_upstream_of_or_within
GO:0007179
transforming growth factor beta receptor signaling pathway
PMID:11278244
enables
GO:0005160
transforming growth factor beta receptor binding
PMID:11278244
increased
GO:0008083
growth factor activity
relative to
PR:000000616
TGF-beta 1 active protein
PMID:12493741
;
PMID:12843182
GO:0042803
protein homodimerization activity
PMID:11278244
located_in
GO:0005615
extracellular space
PMID:11278244
PR:000000628
hTGFB1/var:R218H/Clv:2
UniProtKB:P01137, 30-278, Arg-218, CHEBI:29979 | TGF-beta 1 sequence variant 4 cleaved 2 (human)
"A TGF-beta 1 sequence variant R218H, signal peptide removed form (human) that has been processed by subsequent removal of the C-terminal mature peptide. This chain is referred as to the latency associated peptide (LAP). This form has decreased affinity for the mature peptide. UniProtKB:P01137, 30-278, Arg-218, CHEBI:29979." [PMID:11278244, PRO:CNA, PRO:DAN]
located_in
SO:0001561
polypeptide_partial_loss_of_function
PMID:11278244
SO:0001601
conformational_change_variant
PMID:11278244
