PRO Entry Report - PR:000000147

Protein Ontology Report - hBMPR1B/var:R486W

PR:000000147 - http://purl.obolibrary.org/obo/PR_000000147

Protein Forms Annotations

Ontology Information

PRO ID

PR:000000147 Show OBO stanza / PAF / GPI

PRO name

BMP receptor type-1B sequence variant R486W (human)

Synonyms

PRO-short-label:	EXACT:	hBMPR1B/var:R486W
PRO-proteoform-std:	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

Cytoscape

Related Cross References
DB identifiers	UniProtKB_VAR:VAR_023820

Interactive Sequence View Select/align proteoforms across species

Protein Forms

PRO ID & Category Annotation Complex	Name	Short Label	Definition & Comment

Functional Annotation

PRO Centric View
GO Centric View

PRO Term	GO Annotation		Evidence
PR:000000147 hBMPR1B/var:R486W Arg-486, CHEBI:29954	associated_with_disease_progression	DOID:0050581 brachydactyly	PMID:14523231
	enables	GO:0004674 protein serine/threonine kinase activity	PMID:14523231
	located_in	GO:0009986 cell surface	PMID:14523231

Cellular Location GO Term	Protein Forms & Complexes	Evidence
GO:0009986 cell surface	PR:000000147 hBMPR1B/var:R486W Arg-486, CHEBI:29954	PMID:14523231

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