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Protein Ontology report - BMP receptor type-1B sequence variant R486W (human)
PR:000000147 -
http://purl.obolibrary.org/obo/PR_000000147
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000147
PRO name
BMP receptor type-1B sequence variant R486W (human)
Synonyms
PRO-Short-label
:
EXACT:
hBMPR1B/var:R486W
PRO-proteoform-std
:
EXACT:
UniProtKB:O00238
, Arg-486,
CHEBI:29954
NARROW:
UniProtKB:O00238-1
, Arg-486,
CHEBI:29954
Other
:
EXACT:
BMP receptor type-1B sequence variant 2 (human)
Definition
"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]
PRO Category
organism-sequence
Parent
PR:O00238
bone morphogenetic protein receptor type-1B (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_023820
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
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