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)
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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
More general terms
More specific terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q04771.html
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/7885466