ACVR1

ACVR1

Protbox
Name= Activin receptor type-1
Photo=
Caption=
Gene = HUGO code: [http://www.gene.ucl.ac.uk/nomenclature/data/get_data.php?hgnc_id=HGNC:171 ACVR1]
Structure =
Review =
Type=Serine/Threonine receptor kinase
Functions=
Domains= GS domain, TS domain, S/T domain
Diseases=Fibrodysplasia ossificans progressiva (FOP) OMIM|135100
Taxa = "Homo sapiens"; homologs: many metazoan phyla
Cells = ubiquitous
Location =Plasma membrane
Catalytic_activity=ATP + (receptor-protein) = ADP + (receptor-protein) phosphate
Cofactors=Magnesium or manganese
Enzyme_regulation=
Actions=
Agonists=
Antagonists=
Mods=
Names= Activin receptor type I, ACTR-I, Serine/threonine-protein kinase, receptor R1, SKR1, Activin receptor-like kinase 2, ALK-2, TGF-B superfamily receptor type I, TSR-I
Interactions=
Pages=

ACVR1 or ALK-2 transduces signals of BMPs. BMPs bind either ACVR2A/ACVR2B or a BMPR2 and then form a complex with ACVR1. These go on to recruit the R-SMADs SMAD1, SMAD2, SMAD3 or SMAD6cite 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= |url=http://molpharm.aspetjournals.org/cgi/content/full/62/1/65] It is associated with fibrodysplasia ossificans progressiva. [cite journal |author=Shore EM, Xu M, Feldman GJ, "et al" |title=A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva |journal=Nat. Genet. |volume=38 |issue=5 |pages=525–7 |year=2006 |pmid=16642017 |doi=10.1038/ng1783 |url=http://www.nature.com/ng/journal/v38/n5/abs/ng1783.html]

References

Category:S/T domain


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