Biology:ACVRL1

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Short description: Protein-coding gene in humans


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

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.

Function

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 hereditary hemorrhagic telangiectasia (HHT) type 2, also known as Rendu-Osler-Weber syndrome 2.[3]

Pathology

Germline mutations of ACVRL1 are associated with:

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

ACVRL1 directly interacts with low-density lipoprotein (LDL), which implies that it might initiate the early phases of atherosclerosis.[7]

Abnormal activity of ACVRL1 has been found to be closely associated with idiopathic pulmonary arterial hypertension.

As a drug target

  • Dalantercept is an experimental ALK1 inhibitor.[8]

Closely/family related kinases

(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

References

  1. ↑ "Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity". Oncogene 8 (10): 2879–87. October 1993. PMID 8397373. 
  2. ↑ "Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2". Nature Genetics 13 (2): 189–95. June 1996. doi:10.1038/ng0696-189. PMID 8640225. 
  3. ↑ 3.0 3.1 "Entrez Gene: ACVRL1 activin A receptor type II-like 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=94. 
  4. ↑ "Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia". Journal of Medical Genetics 39 (7): 39e–39. July 2002. doi:10.1136/jmg.39.7.e39. PMID 12114496. 
  5. ↑ "Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene". Acta Clinica Belgica 69 (2): 139–41. April 2014. doi:10.1179/0001551213Z.00000000012. PMID 24724759. 
  6. ↑ "Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension". American Journal of Medical Genetics. Part A 164A (8): 2121–3. August 2014. doi:10.1002/ajmg.a.36568. PMID 24753439. 
  7. ↑ "Genome-wide RNAi screen reveals ALK1 mediates LDL uptake and transcytosis in endothelial cells". Nature Communications 7: 13516. November 2016. doi:10.1038/ncomms13516. PMID 27869117. Bibcode: 2016NatCo...713516K. 
  8. ↑ "Activin receptor inhibitors--dalantercept". Current Oncology Reports 17 (4): 14. 2015. doi:10.1007/s11912-015-0441-5. PMID 25708802. 
  9. ↑ "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. July 2002. doi:10.1124/mol.62.1.58. PMID 12065755. 

Further reading

External links

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




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