ACVRL1
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ACVRL1
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]
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Pathology
It is associated with hereditary hemorrhagic telangiectasia.
References
- ^ 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.
- ^ 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.
- ^ a b "Entrez Gene: ACVRL1 activin A receptor type II-like 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=94.
Further reading
- Attisano L, Cárcamo J, Ventura F, et al. (1993). "Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors.". Cell 75 (4): 671–80. doi:10.1016/0092-8674(93)90488-C. PMID 8242742.
- Johnson DW, Berg JN, Gallione CJ, et al. (1996). "A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.". Genome Res. 5 (1): 21–8. doi:10.1101/gr.5.1.21. PMID 8717052.
- Panchenko MP, Williams MC, Brody JS, Yu Q (1996). "Type I receptor serine-threonine kinase preferentially expressed in pulmonary blood vessels.". Am. J. Physiol. 270 (4 Pt 1): L547–58. PMID 8928814.
- Berg JN, Gallione CJ, Stenzel TT, et al. (1997). "The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2". Am. J. Hum. Genet. 61 (1): 60–7. doi:10.1086/513903. PMC 1715857. PMID 9245985. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1715857.
- Stockwell BR, Schreiber SL (1998). "Probing the role of homomeric and heteromeric receptor interactions in TGF-beta signaling using small molecule dimerizers". Curr. Biol. 8 (13): 761–70. doi:10.1016/S0960-9822(98)70299-4. PMID 9651680.
- Lux A, Attisano L, Marchuk DA (1999). "Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1". J. Biol. Chem. 274 (15): 9984–92. doi:10.1074/jbc.274.15.9984. PMID 10187774.
- Klaus DJ, Gallione CJ, Anthony K, et al. (2000). "Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online". Hum. Mutat. 12 (2): 137. doi:10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU16>3.0.CO;2-J. PMID 10694922.
- Oh SP, Seki T, Goss KA, et al. (2000). "Activin receptor-like kinase 1 modulates transforming growth factor-β1 signaling in the regulation of angiogenesis". Proc. Natl. Acad. Sci. U.S.A. 97 (6): 2626–31. doi:10.1073/pnas.97.6.2626. PMC 15979. PMID 10716993. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=15979.
- Abdalla SA, Pece-Barbara N, Vera S, et al. (2000). "Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2". Hum. Mol. Genet. 9 (8): 1227–37. doi:10.1093/hmg/9.8.1227. PMID 10767348.
- Kjeldsen AD, Brusgaard K, Poulsen L, et al. (2001). "Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families". Am. J. Med. Genet. 98 (4): 298–302. doi:10.1002/1096-8628(20010201)98:4<298::AID-AJMG1093>3.0.CO;2-K. PMID 11170071.
- Wurthner JU, Frank DB, Felici A, et al. (2001). "Transforming growth factor-beta receptor-associated protein 1 is a Smad4 chaperone". J. Biol. Chem. 276 (22): 19495–502. doi:10.1074/jbc.M006473200. PMID 11278302.
- Parks WT, Frank DB, Huff C, et al. (2001). "Sorting nexin 6, a novel SNX, interacts with the transforming growth factor-beta family of receptor serine-threonine kinases". J. Biol. Chem. 276 (22): 19332–9. doi:10.1074/jbc.M100606200. PMID 11279102.
- Birkey Reffey S, Wurthner JU, Parks WT, et al. (2001). "X-linked inhibitor of apoptosis protein functions as a cofactor in transforming growth factor-beta signaling". J. Biol. Chem. 276 (28): 26542–9. doi:10.1074/jbc.M100331200. PMID 11356828.
- Trembath RC, Thomson JR, Machado RD, et al. (2001). "Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia". N. Engl. J. Med. 345 (5): 325–34. doi:10.1056/NEJM200108023450503. PMID 11484689.
- Inman GJ, Nicolás FJ, Callahan JF, et al. (2002). "SB-431542 is a potent and specific inhibitor of transforming growth factor-beta superfamily type I activin receptor-like kinase (ALK) receptors ALK4, ALK5, and ALK7". Mol. Pharmacol. 62 (1): 65–74. doi:10.1124/mol.62.1.65. PMID 12065756.
- Olivieri C, Mira E, Delù G, et al. (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. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735165.
- Mo J, Fang SJ, Chen W, Blobe GC (2003). "Regulation of ALK-1 signaling by the nuclear receptor LXRbeta". J. Biol. Chem. 277 (52): 50788–94. doi:10.1074/jbc.M210376200. PMID 12393874.
- Lamouille S, Mallet C, Feige JJ, Bailly S (2003). "Activin receptor-like kinase 1 is implicated in the maturation phase of angiogenesis". Blood 100 (13): 4495–501. doi:10.1182/blood.V100.13.4495. PMID 12453878.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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