ACVR1

ACVR1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3H9R, 3MTF, 3OOM, 3Q4U, 4BGG, 4C02, 4DYM
Identifiers
Aliases	ACVR1, ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI, activin A receptor type 1
External IDs	OMIM: 102576 MGI: 87911 HomoloGene: 7 GeneCards: ACVR1
Gene ontology Molecular function • transferase activity • protein kinase activity • activin receptor activity, type I • nucleotide binding • protein homodimerization activity • signal transducer, downstream of receptor, with serine/threonine kinase activity • growth factor binding • activin binding • metal ion binding • kinase activity • peptide hormone binding • protein serine/threonine kinase activity • transmembrane receptor protein serine/threonine kinase activity • transforming growth factor beta receptor activity, type I • protein binding • ATP binding • transforming growth factor beta binding • SMAD binding Cellular component • integral component of membrane • membrane • apical part of cell • integral component of plasma membrane • activin receptor complex Biological process • germ cell development • pathway-restricted SMAD protein phosphorylation • signal transduction by protein phosphorylation • positive regulation of bone mineralization • phosphorylation • positive regulation of cell migration • G1/S transition of mitotic cell cycle • mesoderm formation • gastrulation with mouth forming second • negative regulation of extrinsic apoptotic signaling pathway • endocardial cushion cell fate commitment • cellular response to BMP stimulus • in utero embryonic development • positive regulation of determination of dorsal identity • mitral valve morphogenesis • smooth muscle cell differentiation • BMP signaling pathway • positive regulation of transcription, DNA-templated • protein phosphorylation • negative regulation of activin receptor signaling pathway • heart development • determination of left/right symmetry • positive regulation of osteoblast differentiation • transmembrane receptor protein serine/threonine kinase signaling pathway • acute inflammatory response • gastrulation • embryonic heart tube morphogenesis • neural crest cell migration • cardiac muscle cell fate commitment • branching involved in blood vessel morphogenesis • negative regulation of signal transduction • regulation of ossification • peptidyl-threonine phosphorylation • mesoderm development • transforming growth factor beta receptor signaling pathway • pharyngeal system development • activin receptor signaling pathway • outflow tract septum morphogenesis • atrioventricular valve morphogenesis • endocardial cushion morphogenesis • endocardial cushion fusion • atrial septum primum morphogenesis • positive regulation of pathway-restricted SMAD protein phosphorylation • positive regulation of transcription from RNA polymerase II promoter • ventricular septum morphogenesis • BMP signaling pathway involved in heart development • positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	90	11477
Ensembl	ENSG00000115170	ENSMUSG00000026836
UniProt	Q04771	P37172
RefSeq (mRNA)	NM_001105 NM_001111067 NM_001347663 NM_001347664 NM_001347665 NM_001347666 NM_001347667	NM_001110204 NM_001110205 NM_007394
RefSeq (protein)	NP_001096 NP_001104537 NP_001334592 NP_001334593 NP_001334594 NP_001334595 NP_001334596	NP_001103674.1 NP_001103675.1 NP_031420.2 NP_001103674 NP_001103675 NP_031420
Location (UCSC)	Chr 2: 157.74 – 157.88 Mb	Chr 2: 58.39 – 58.57 Mb
PubMed search

3H9R, 3MTF, 3OOM, 3Q4U, 4BGG, 4C02, 4DYM

90

11477

ENSG00000115170

ENSMUSG00000026836

Q04771

P37172

NM_001347666
NM_001347667

NM_001110204
NM_001110205
NM_007394

NP_001334595
NP_001334596

NP_031420

Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ACVR1 gene; also known as ALK-2 (activin receptor-like kinase-2). ACVR1 has been linked to the 2q23-24 region of the genome. This protein is important in the bone morphogenic protein (BMP) pathway which is responsible for the development and repair of the skeletal system. While knock-out models with this gene are in progress, the ACVR1 gene has been connected to Fibrodysplasia Ossificans Progressiva, a disease characterized by the formation of heterotopic bone throughout the body.

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