ACVRL1

ACVRL1
Structures disponibles
PDB	Recherche d'orthologue : PDBe RCSB
Identifiants PDB
	2LCR, 3MY0, 4FAO
Identifiants
Alias	ACVRL1
IDs externes	OMIM: 601284 MGI: 1338946 HomoloGene: 20058 GeneCards: ACVRL1
Nomenclature EC	2.7.11.30
Position du gène (humain)
Chr.	Chromosome 12 humain
Fin	51,923,361 bp
Position du gène (souris)
Chr.	Chromosome 15 (souris)
Fin	101,043,217 bp
Expression génique
	Fortement exprimé dans
	poumon droit; ; upper lobe of left lung; ; tendon of biceps brachii; ; apex of heart; ; mucosa of transverse colon; ; left uterine tube; ; lobe inférieur du poumon; ; right lobe of thyroid gland; ; subcutaneous adipose tissue; ; endocol;
	Fortement exprimé dans
	granulocyte; ; poumon droit; ; poumon gauche; ; lobe pulmonaire droit; ; left lung lobe; ; cardiac muscle tissue of left ventricle; ; muscle long extenseur des orteils; ; muscle extra-oculaire; ; muscle plantaire; ; choroid plexus of fourth ventricle;
	Plus de données d'expression de référence
	Plus de données d'expression de référence
Gene Ontology
Fonction moléculaire	activité de transférase; liaison nucléotide; protein kinase activity; activin binding; transforming growth factor beta-activated receptor activity; liaison ion métal; activité kinase; protein serine/threonine kinase activity; transmembrane receptor protein serine/threonine kinase activity; liaison protéique; BMP receptor activity; liaison ATP; 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;
Composant cellulaire	integral component of membrane; membrane; integral component of plasma membrane; soma; dendrite; membrane plasmique; surface cellulaire; receptor complex; activin receptor complex;
Processus biologique	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; circulation sanguine; 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; régulation positive de la transcription dépendante de l'ADN; phosphorylation des protéines; 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; angiogenèse; 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; transduction de signal; 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
Orthologues
	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
Voir/Editer Humain	Voir/Editer Souris

L'ACVRL1 (pour « activin receptor-like kinase 1 »), ou ALK1, est une protéine dont le gène, ACVRL1, est situé sur le chromosome 12 humain.

Rôles

Il s'agit d'un récepteur au TGF bêta.

Il inhibe l'angiogenèse, utilisant la voie de signalisation Notch.

Il est inhibé par le NRP1.

En médecine

Une mutation du gène est responsable d'une forme de la maladie de Rendu-Osler, dite de type 2. La diminution de son activité est associée avec celle du VEGFR1 et une augmentation de celle du VEGFR2, expliquant les anomalies vasculaires de la maladie.

Notes et références

1 2 3 GRCh38: Ensembl release 89: ENSG00000139567 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000000530 - Ensembl, May 2017
↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ Larrivée B, Prahst C, Gordon E et al. ALK1 signaling inhibits angiogenesis by cooperating with the Notch pathway, Dev Cell, 2012;22:489–500
↑ Aspalter IM, Gordon E, Dubrac A et al. Alk1 and Alk5 inhibition by Nrp1 controls vascular sprouting downstream of Notch, Nat Commun, 2015;6:7264
↑ McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir P, Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era, Front Genet, 2015;6:1.
↑ Thalgott JH, Dos-Santos-Luis D, Hosman AE et al. Decreased expression of vascular endothelial growth factor receptor 1 contributes to the pathogenesis of hereditary hemorrhagic telangiectasia type 2, Circulation, 2018;138:2698–2712

Portail de la biologie cellulaire et moléculaire

Portail de la médecine

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000139567 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000000530 - Ensembl, May 2017

[3] « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[4] « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[Larrivée_2012-5] Larrivée B, Prahst C, Gordon E et al. ALK1 signaling inhibits angiogenesis by cooperating with the Notch pathway, Dev Cell, 2012;22:489–500

[Aspalter_2015-6] Aspalter IM, Gordon E, Dubrac A et al. Alk1 and Alk5 inhibition by Nrp1 controls vascular sprouting downstream of Notch, Nat Commun, 2015;6:7264

[McDonald_2015-7] McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir P, Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era, Front Genet, 2015;6:1.

[Thalgott_2018-8] Thalgott JH, Dos-Santos-Luis D, Hosman AE et al. Decreased expression of vascular endothelial growth factor receptor 1 contributes to the pathogenesis of hereditary hemorrhagic telangiectasia type 2, Circulation, 2018;138:2698–2712