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activin receptor type-1; activin receptor type I; ACTR-I; serine/threonine protein kinase receptor R1; SKR1; activin receptor-like kinase 2; ALK-2; TGF-B superfamily receptor type I; TSR-I (ACVR1, ACVRLK2)
Function:
- receptor for activin
- on ligand binding, forms a receptor complex consisting of 2 type II & 2 type I transmembrane serine/threonine kinases
- type II receptors phosphorylate & activate type I receptors which autophosphorylate, then bind & activate SMAD transcriptional regulators
- may be involved in left-right pattern formation during embryogenesis
Cofactor: Mg+2 or Mn+2 (putative)
Structure:
- belongs to the protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily
- contains 1 GS domain
- contains 1 protein kinase domain
Compartment: membrane
Expression:
- expressed in normal parenchymal cells, endothelial cells, fibroblasts
Pathology:
- expressed in tumor-derived epithelial cells
- defects in ACVR1 are a cause of fibrodysplasia ossificans progressiva
Specific
activin receptor 1C; ACTR-IC; activin receptor-like kinase 7; ALK-7 (ACVR1C, ALK7)
General
activin receptor
activin receptor like kinase (ALK)
glycoprotein
phosphoprotein
Properties
SIZE: entity length = 509 aa
MW = 57 kD
COMPARTMENT: cellular membrane
STATE: active state
MOTIF: signal sequence {1-20}
N-glycosylation site {N102}
transmembrane domain {124-146}
GS {178-207}
kinase domain
SITE: 208-502
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 214-222
ATP-binding site
NAME: ATP-binding site
SITE: 235-235
aspartate residue {D336}
Ser phosphorylation site {S501}
Database Correlations
OMIM correlations
UniProt Q04771
PFAM correlations
Kegg hsa:90
ENZYME 2.7.11.30
References
- UniProt :accession Q04771
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ACVR1
- Smith J
Developmental biology. Angles on activin's absence.
Nature 374:311 1995
PMID: 7885466