ACVRL1

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ACVRL1
Available structures
PDB Ortholog search: PDBe RCSB
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: 94
RNA expression pattern
PBB GE ACVRL1 210838 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000020
NM_001077401

NM_001277255
NM_001277257
NM_001277258
NM_001277259
NM_009612

RefSeq (protein)

NP_000011.2
NP_001070869.1

NP_001264186.1
NP_001264187.1
NP_001264188.1
NP_033742.2

Location (UCSC) Chr 12: 51.91 – 51.92 Mb Chr 15: 101.13 – 101.15 Mb
PubMed search [1] [2]
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.[3][4][5]

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.[5]

Pathology[edit]

Germline mutations of ACVRL1 are associated with:

Somatic mosaicism in ACVRL1 are associated with severe pulmonary arterial hypertension.[8]

Closely/family related kinases[edit]

(Not to be confused with anaplastic lymphoma kinase (ALK) )
ALK4 is ACVR1B, ALK7 is ACVR1C, and ALK5 is [part of] the TGF-β type I receptor.[9]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: ACVRL1 activin A receptor type II-like 1". 
  6. ^ 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 1735165free to read. PMID 12114496. 
  7. ^ 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. 
  8. ^ 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. 
  9. ^ Laping, NJ; Grygielko E; Mathur A; Butter S; Bomberger J; Tweed C; Martin W; Fornwald J; Lehr R; Harling J; Gaster L; Callahan JF; Olson BA (2002). "Inhibition of transforming growth factor (TGF)-beta1-induced extracellular matrix with a novel inhibitor of the TGF-beta type I receptor kinase activity: SB-431542". Molecular Pharmacology. 62 (1): 58–64. doi:10.1124/mol.62.1.58. PMID 12065755. 

Further reading[edit]

External links[edit]

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