ACVR1

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Activin receptor type-1
Other 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
Genetic data
Gene code: HUGO code:ACVR1
Protein Structure/Function
Protein type: Serine/Threonine receptor kinase
Domains: GS domain, TS domain, S/T domain
Other
Taxa expressing: Homo sapiens; homologs: many metazoan phyla
Cell types: ubiquitous
Subcellular localization: Plasma membrane
Enzymatic Data
Catalytic activity: ATP + (receptor-protein) = ADP + (receptor-protein) phosphate
Cofactor(s): Magnesium or manganese
Medical/Biotechnological data
Diseases: Fibrodysplasia ossificans progressiva (FOP) Online 'Mendelian Inheritance in Man' (OMIM) 135100

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 SMAD6[1]

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Identifiers
Symbol ACVR1
Alt. Symbols ACVRLK2
Entrez 90
HUGO 171
OMIM 102576
RefSeq NM_001105
UniProt Q04771
Other data
EC number 2.7.11.30
Locus Chr. 2 q23-q24

It is associated with fibrodysplasia ossificans progressiva.[2]

[edit] References

  1. ^ 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. PMID 12065756. 
  2. ^ Shore EM, Xu M, Feldman GJ, et al (2006). "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva". Nat. Genet. 38 (5): 525–7. doi:10.1038/ng1783. PMID 16642017. 
v • d • e
Cell signaling: TGF beta signaling pathway
TGF beta superfamily of ligands
TGF beta receptors
Transducers/SMAD
Ligand Inhibitors
Coreceptors
Other