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; OMA:ACVR1 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	157,876,330 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	58,457,169 bp
RNA expression pattern
	Top expressed in
	cartilage tissue; ; synovial joint; ; saphenous vein; ; stromal cell of endometrium; ; urethra; ; islet of Langerhans; ; secondary oocyte; ; periodontal fiber; ; ventricular zone; ; synovial membrane;
	Top expressed in
	atrioventricular valve; ; endocardial cushion; ; calvaria; ; vas deferens; ; atrium; ; ureter; ; dermis; ; semi-lunar valve; ; ankle; ; vestibular membrane of cochlear duct;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; protein kinase activity; activin receptor activity, type I; nucleotide binding; protein homodimerization 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; transforming growth factor beta-activated receptor activity; BMP receptor activity;
Cellular component	integral component of membrane; membrane; apical part of cell; integral component of plasma membrane; activin receptor complex; receptor complex;
Biological process	germ cell development; pathway-restricted SMAD protein phosphorylation; positive regulation of bone mineralization; phosphorylation; positive regulation of cell migration; 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 by RNA polymerase II; ventricular septum morphogenesis; BMP signaling pathway involved in heart development; positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation; G1/S transition of mitotic cell cycle; pattern specification process;
	Sources:Amigo / QuickGO
Orthologs
	90
	11477
	ENSG00000115170
	ENSMUSG00000026836
	Q04771
	P37172
NM_001105; NM_001111067; NM_001347663; NM_001347664; NM_001347665;
	NM_001347666; NM_001347667
	NM_001110204; NM_001110205; NM_007394; NM_001355048; NM_001355049
NP_001096; NP_001104537; NP_001334592; NP_001334593; NP_001334594;
	NP_001334595; NP_001334596
	NP_001103674; NP_001103675; NP_031420; NP_001341977; NP_001341978
	Wikidata
View/Edit Human	View/Edit Mouse

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).^[5] ACVR1 has been linked to the 2q23-24 region of the genome.^[6] 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, an extremely rare progressive genetic disease characterized by heterotopic ossification of muscles, tendons and ligaments.^[7] It is a bone morphogenetic protein receptor, type 1.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000115170 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026836 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ten Dijke P, Ichijo H, Franzén P, Schulz P, Saras J, Toyoshima H, Heldin CH, Miyazono K (October 1993). "Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity". Oncogene. 8 (10): 2879–87. PMID 8397373.
^ Pignolo RJ, Shore EM, Kaplan FS (June 2013). "Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons". Pediatr Endocrinol Rev. 10 Suppl 2 (2): 437–48. PMC 3995352. PMID 23858627.
^ de Ruiter RD, Smilde BJ, Pals G, Bravenboer N, Knaus P, Schoenmaker T, et al. (2021). "Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop". Front Endocrinol (Lausanne). 12: 732728. doi:10.3389/fendo.2021.732728. PMC 8631510. PMID 34858325.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000115170 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026836 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8397373-5] ten Dijke P, Ichijo H, Franzén P, Schulz P, Saras J, Toyoshima H, Heldin CH, Miyazono K (October 1993). "Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity". Oncogene. 8 (10): 2879–87. PMID 8397373.

[pmid23858627-6] Pignolo RJ, Shore EM, Kaplan FS (June 2013). "Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons". Pediatr Endocrinol Rev. 10 Suppl 2 (2): 437–48. PMC 3995352. PMID 23858627.

[pmid34858325-7] Ruiter RD, Smilde BJ, Pals G, Bravenboer N, Knaus P, Schoenmaker T, et al. (2021). "Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop". Front Endocrinol (Lausanne). 12: 732728. doi:10.3389/fendo.2021.732728. PMC 8631510. PMID 34858325.

[1]

[2]

[3]

[4]

[5]

[6]

[7]