ACVRL1

Activin A receptor type II-like 1, also known as ACVRL1, is a human gene.cite web | title = Entrez Gene: ACVRL1 activin A receptor type II-like 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=94| accessdate = ]

ACVRL1 is a receptor in the TGF beta signaling pathway.

It is also known as "activin receptor-like kinase 1", or "ALK1".

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ACVRL1 activin A receptor type II-like 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=94| accessdate = ]

Pathology

It is associated with hereditary hemorrhagic telangiectasia.

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Attisano L, Cárcamo J, Ventura F, "et al." |title=Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors. |journal=Cell |volume=75 |issue= 4 |pages= 671–80 |year= 1993 |pmid= 8242742 |doi=
*cite journal | author=ten Dijke P, Ichijo H, Franzén P, "et al." |title=Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. |journal=Oncogene |volume=8 |issue= 10 |pages= 2879–87 |year= 1993 |pmid= 8397373 |doi=
*cite journal | author=Johnson DW, Berg JN, Baldwin MA, "et al." |title=Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. |journal=Nat. Genet. |volume=13 |issue= 2 |pages= 189–95 |year= 1996 |pmid= 8640225 |doi= 10.1038/ng0696-189
*cite journal | author=Johnson DW, Berg JN, Gallione CJ, "et al." |title=A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. |journal=Genome Res. |volume=5 |issue= 1 |pages= 21–8 |year= 1996 |pmid= 8717052 |doi=
*cite journal | author=Panchenko MP, Williams MC, Brody JS, Yu Q |title=Type I receptor serine-threonine kinase preferentially expressed in pulmonary blood vessels. |journal=Am. J. Physiol. |volume=270 |issue= 4 Pt 1 |pages= L547–58 |year= 1996 |pmid= 8928814 |doi=
*cite journal | author=Berg JN, Gallione CJ, Stenzel TT, "et al." |title=The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. |journal=Am. J. Hum. Genet. |volume=61 |issue= 1 |pages= 60–7 |year= 1997 |pmid= 9245985 |doi=
*cite journal | author=Stockwell BR, Schreiber SL |title=Probing the role of homomeric and heteromeric receptor interactions in TGF-beta signaling using small molecule dimerizers. |journal=Curr. Biol. |volume=8 |issue= 13 |pages= 761–70 |year= 1998 |pmid= 9651680 |doi=
*cite journal | author=Lux A, Attisano L, Marchuk DA |title=Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1. |journal=J. Biol. Chem. |volume=274 |issue= 15 |pages= 9984–92 |year= 1999 |pmid= 10187774 |doi=
*cite journal | author=Klaus DJ, Gallione CJ, Anthony K, "et al." |title=Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online. |journal=Hum. Mutat. |volume=12 |issue= 2 |pages= 137 |year= 2000 |pmid= 10694922 |doi= 10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU16>3.0.CO;2-J |doilabel=10.1002/(SICI)1098-1004(1998)12:2137::AID-HUMU163.0.CO;2-J
*cite journal | author=Oh SP, Seki T, Goss KA, "et al." |title=Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 6 |pages= 2626–31 |year= 2000 |pmid= 10716993 |doi=
*cite journal | author=Abdalla SA, Pece-Barbara N, Vera S, "et al." |title=Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. |journal=Hum. Mol. Genet. |volume=9 |issue= 8 |pages= 1227–37 |year= 2000 |pmid= 10767348 |doi=
*cite journal | author=Kjeldsen AD, Brusgaard K, Poulsen L, "et al." |title=Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. |journal=Am. J. Med. Genet. |volume=98 |issue= 4 |pages= 298–302 |year= 2001 |pmid= 11170071 |doi=
*cite journal | author=Wurthner JU, Frank DB, Felici A, "et al." |title=Transforming growth factor-beta receptor-associated protein 1 is a Smad4 chaperone. |journal=J. Biol. Chem. |volume=276 |issue= 22 |pages= 19495–502 |year= 2001 |pmid= 11278302 |doi= 10.1074/jbc.M006473200
*cite journal | author=Parks WT, Frank DB, Huff C, "et al." |title=Sorting nexin 6, a novel SNX, interacts with the transforming growth factor-beta family of receptor serine-threonine kinases. |journal=J. Biol. Chem. |volume=276 |issue= 22 |pages= 19332–9 |year= 2001 |pmid= 11279102 |doi= 10.1074/jbc.M100606200
*cite journal | author=Birkey Reffey S, Wurthner JU, Parks WT, "et al." |title=X-linked inhibitor of apoptosis protein functions as a cofactor in transforming growth factor-beta signaling. |journal=J. Biol. Chem. |volume=276 |issue= 28 |pages= 26542–9 |year= 2001 |pmid= 11356828 |doi= 10.1074/jbc.M100331200
*cite journal | author=Trembath RC, Thomson JR, Machado RD, "et al." |title=Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. |journal=N. Engl. J. Med. |volume=345 |issue= 5 |pages= 325–34 |year= 2001 |pmid= 11484689 |doi=
*cite journal | author=Inman GJ, Nicolás FJ, Callahan JF, "et al." |title=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. |journal=Mol. Pharmacol. |volume=62 |issue= 1 |pages= 65–74 |year= 2002 |pmid= 12065756 |doi=
*cite journal | author=Olivieri C, Mira E, Delù G, "et al." |title=Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. |journal=J. Med. Genet. |volume=39 |issue= 7 |pages= E39 |year= 2002 |pmid= 12114496 |doi=
*cite journal | author=Mo J, Fang SJ, Chen W, Blobe GC |title=Regulation of ALK-1 signaling by the nuclear receptor LXRbeta. |journal=J. Biol. Chem. |volume=277 |issue= 52 |pages= 50788–94 |year= 2003 |pmid= 12393874 |doi= 10.1074/jbc.M210376200
*cite journal | author=Lamouille S, Mallet C, Feige JJ, Bailly S |title=Activin receptor-like kinase 1 is implicated in the maturation phase of angiogenesis. |journal=Blood |volume=100 |issue= 13 |pages= 4495–501 |year= 2003 |pmid= 12453878 |doi= 10.1182/blood.V100.13.4495

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