| edit |
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
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:. 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:. 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:. 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:. PMID 9245985.
- 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:. 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:. 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:. PMID 10694922.
- Oh SP, Seki T, Goss KA, et al. (2000). "Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis.". Proc. Natl. Acad. Sci. U.S.A. 97 (6): 2626–31. doi:. PMID 10716993.
- 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:. 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:. 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:. 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:. 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:. 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:. 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:. 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:. PMID 12114496.
- 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:. 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:. PMID 12453878.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 |
This article on a gene on chromosome 12 is a stub. You can help Wikipedia by expanding it. |
|
||||||||||||||||||||
This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)
