Protein Ontology

RACE-PRO

Protein Ontology report - serine/threonine-protein kinase receptor R3 sequence variant S333I (human)

Ontology Information

PRO ID

PR:000000329

PRO name

serine/threonine-protein kinase receptor R3 sequence variant S333I (human)

Synonyms

PRO-Short-label:	EXACT:	hACVRL1/var:S333I
PRO-proteoform-std:	EXACT:	UniProtKB:P37023, Ser-333, CHEBI:30009
Other:	EXACT:	serine/threonine-protein kinase receptor R3 sequence variant 20 (human)

Definition

"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]

PRO Category

organism-sequence

Parent

PR:P37023 serine/threonine-protein kinase receptor R3 (human)

Taxon

Term Hierarchy
Visualization

DAG:

OLS:

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Related Cross References
Db identifiers	UniProtKB_VAR:VAR_006210

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Functional Annotation (PRO-centric view)

PRO Term	GO Annotation		Evidence
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