From Wikipedia, the free encyclopedia
| 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]
It is associated with fibrodysplasia ossificans progressiva.[2]
[edit] References
- ^ 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.
- ^ 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.
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Cell signaling: TGF beta signaling pathway |
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| TGF beta superfamily of ligands |
TGF beta family ( TGF-β1, TGF-β2, TGF-β3)
Bone morphogenetic proteins ( BMP2, BMP3, BMP4, BMP5, BMP6, BMP7, BMP8a, BMP8b, BMP10 , BMP15)
Growth differentiation factors ( GDF1, GDF2, GDF3, GDF5, GDF6, GDF7, Myostatin/GDF8, GDF9, GDF10, GDF11, GDF15)
Other ( Activin A and B/ Inhibin A and B, Anti-müllerian hormone, Nodal)
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| TGF beta receptors |
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| Transducers/SMAD |
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| Ligand Inhibitors |
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| Coreceptors |
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| Other |
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