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activin A receptor
Identifiers
Symbols ACVR1; ALK2; ACVRLK2; TSRI; FOP; ACVR1A; SKR1; ACTRI
External IDs OMIM102576 MGI87911 HomoloGene7 GeneCards: ACVR1 Gene
Orthologs
Species Human Mouse
Entrez 90 11477
Ensembl ENSG00000115170 ENSMUSG00000026836
UniProt Q04771 P37172
RefSeq (mRNA) NM_001105 NM_001110205
RefSeq (protein) NP_001096 NP_031420
Location (UCSC) Chr 2:
158.3 - 158.44 Mb
Chr 2:
58.3 - 58.42 Mb
PubMed search [1] [2]

Activin A receptor, type I (ACVR1) also known as ALK-2 is a protein which in humans is encoded by the ACVR1 gene.[1]

Contents

Function

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors.[2]

Signaling

ACVR1 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.[3]

Clinical significance

Mutations in the ACVR1 are associated with fibrodysplasia ossificans progressiva.[4]

References

  1. ^ ten Dijke P, Ichijo H, Franzén P, Schulz P, Saras J, Toyoshima H, Heldin CH, Miyazono K (October 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.  
  2. ^ "Entrez Gene: ACVR1 (activin A receptor, type I)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=90.  
  3. ^ Inman GJ, Nicolás FJ, Callahan JF, Harling JD, Gaster LM, Reith AD, Laping NJ, Hill CS (July 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". Molecular pharmacology 62 (1): 65–74. doi:10.1124/mol.62.1.65. PMID 12065756.  
  4. ^ Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, LeMerrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS (May 2006). "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva". Nature genetics 38 (5): 525–7. doi:10.1038/ng1783. PMID 16642017.  

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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