ACVRL1 information

ACVRL1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2LCR, 3MY0, 4FAO
Identifiers
Aliases	ACVRL1, ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I, activin A receptor like type 1
External IDs	OMIM: 601284; MGI: 1338946; HomoloGene: 20058; GeneCards: ACVRL1; OMA:ACVRL1 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	51,923,361 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	101,043,217 bp
RNA expression pattern
	Top expressed in
	right lung; ; upper lobe of left lung; ; tendon of biceps brachii; ; apex of heart; ; mucosa of transverse colon; ; left uterine tube; ; lower lobe of lung; ; right lobe of thyroid gland; ; subcutaneous adipose tissue; ; canal of the cervix;
	Top expressed in
	granulocyte; ; right lung; ; left lung; ; right lung lobe; ; left lung lobe; ; cardiac muscle tissue of left ventricle; ; extensor digitorum longus muscle; ; extraocular muscle; ; plantaris muscle; ; choroid plexus of fourth ventricle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; nucleotide binding; protein kinase activity; activin binding; transforming growth factor beta-activated receptor activity; metal ion binding; kinase activity; protein serine/threonine kinase activity; transmembrane receptor protein serine/threonine kinase activity; protein binding; BMP receptor activity; ATP binding; protein kinase binding; transforming growth factor beta binding; transforming growth factor beta receptor activity, type I; activin receptor activity, type I; SMAD binding; growth factor binding;
Cellular component	integral component of membrane; membrane; integral component of plasma membrane; neuronal cell body; dendrite; plasma membrane; cell surface; receptor complex; activin receptor complex;
Biological process	cellular response to transforming growth factor beta stimulus; negative regulation of cell adhesion; regulation of transcription, DNA-templated; positive regulation of endothelial cell differentiation; positive regulation of endothelial cell proliferation; blood vessel morphogenesis; negative regulation of blood vessel endothelial cell migration; lymphangiogenesis; regulation of DNA replication; phosphorylation; endothelial tube morphogenesis; retina vasculature development in camera-type eye; wound healing, spreading of epidermal cells; lymphatic endothelial cell differentiation; positive regulation of pathway-restricted SMAD protein phosphorylation; cellular response to BMP stimulus; negative regulation of endothelial cell differentiation; in utero embryonic development; blood vessel endothelial cell proliferation involved in sprouting angiogenesis; blood circulation; positive regulation of angiogenesis; venous blood vessel development; negative regulation of endothelial cell migration; negative regulation of endothelial cell proliferation; regulation of blood vessel endothelial cell migration; regulation of blood pressure; positive regulation of transcription, DNA-templated; protein phosphorylation; blood vessel remodeling; negative regulation of cell migration; transmembrane receptor protein serine/threonine kinase signaling pathway; negative regulation of cell growth; positive regulation of chondrocyte differentiation; angiogenesis; artery development; regulation of endothelial cell proliferation; positive regulation of BMP signaling pathway; transforming growth factor beta receptor signaling pathway; negative regulation of focal adhesion assembly; negative regulation of DNA biosynthetic process; signal transduction; negative regulation of cell population proliferation; blood vessel maturation; activin receptor signaling pathway; response to hypoxia; endocardial cushion to mesenchymal transition; endocardial cushion morphogenesis; negative regulation of gene expression; dorsal aorta morphogenesis; positive regulation of transcription by RNA polymerase II; BMP signaling pathway; pattern specification process;
	Sources:Amigo / QuickGO
Orthologs
	94
	11482
	ENSG00000139567
	ENSMUSG00000000530
	P37023
	Q61288
	NM_000020; NM_001077401
	NM_001277255; NM_001277257; NM_001277258; NM_001277259; NM_009612
	NP_000011; NP_001070869
	NP_001264184; NP_001264186; NP_001264187; NP_001264188; NP_033742
	Wikidata
View/Edit Human	View/Edit Mouse

Serine/threonine-protein kinase receptor R3 is an enzyme that in humans is encoded by the ACVRL1 gene.^[5]^[6]^[7]

ACVRL1 is a receptor in the TGF beta signaling pathway. It is also known as activin receptor-like kinase 1, or ALK1.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000139567 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000000530 – 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.
^ Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA (June 1996). "Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2". Nature Genetics. 13 (2): 189–95. doi:10.1038/ng0696-189. PMID 8640225. S2CID 21379604.
^ Cite error: The named reference entrez was invoked but never defined (see the help page).

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000139567 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000000530 – 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.

[pmid8640225-6] Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA (June 1996). "Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2". Nature Genetics. 13 (2): 189–95. doi:10.1038/ng0696-189. PMID 8640225. S2CID 21379604.

[entrez-7] Cite error: The named reference entrez was invoked but never defined (see the help page).

ACVRL1 information

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