ACVRL1

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Activin A receptor type II-like 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ACVRL1 ; ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3; TSR-I
External IDs OMIM601284 MGI1338946 HomoloGene20058 ChEMBL: 5311 GeneCards: ACVRL1 Gene
EC number 2.7.11.30
RNA expression pattern
PBB GE ACVRL1 210838 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 94 11482
Ensembl ENSG00000139567 ENSMUSG00000000530
UniProt P37023 Q61288
RefSeq (mRNA) NM_000020 NM_001277255
RefSeq (protein) NP_000011 NP_001264184
Location (UCSC) Chr 12:
52.3 – 52.32 Mb
Chr 15:
101.13 – 101.15 Mb
PubMed search [1] [2]

Serine/threonine-protein kinase receptor R3 is an enzyme that in humans is encoded by the ACVRL1 gene.[1][2][3]

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

This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2.[3]

Pathology[edit]

Germline mutations of ACVRL1 are associated with:

Somatic mosaicism in ACVRL1 are associated with severe pulmonary arterial hypertension.[6]

References[edit]

  1. ^ ten Dijke P, Ichijo H, Franzen P, Schulz P, Saras J, Toyoshima H, Heldin CH, Miyazono K (Oct 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. 
  2. ^ 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 (Jul 1996). "Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2". Nat Genet 13 (2): 189–95. doi:10.1038/ng0696-189. PMID 8640225. 
  3. ^ a b "Entrez Gene: ACVRL1 activin A receptor type II-like 1". 
  4. ^ Olivieri C, Mira E, Delù G, Pagella F, Zambelli A, Malvezzi L, Buscarini E, Danesino C (2002). "Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia". J. Med. Genet. 39 (7): E39. doi:10.1136/jmg.39.7.e39. PMC 1735165. PMID 12114496. 
  5. ^ Vandenbriele C, Peerlinck K, de Ravel T, Verhamme P, Vanassche T (2014). "Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene". Acta Clin Belg 69 (2): 139–41. doi:10.1179/0001551213Z.00000000012. PMID 24724759. 
  6. ^ Jones G, Robertson L, Harrison R, Ridout C, Vasudevan P (April 2014). "Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension". American Journal of Medical Genetics Part A. doi:10.1002/ajmg.a.36568. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.