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ACVR1


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Symbol:ACVR1
Name(s):activin A receptor, type I
Type:protein-coding
Organism:Homo sapiens
Synonyms:ACTRI, ACVRLK2, ALK2, FOP, SKR1
Links: Pubmed, Entrez Gene, GeneCards, BioGPS, Map Viewer.

Gene Information from Publications

Publication Link Summary of findings
18019378 Various mutations may occur in myositis ossificans nuclear families.
17496924 knockdown of ALK2, but not TGFbetaRI (ALK5), abrogated endoglin-mediated decreases in cell motility and constitutively active ALK2 was sufficient to restore a low-motility phenotype in endoglin deficient cells
17572636 In both the wild-type ACVR1 model and template crystal structures (TbetaRI), the conserved arginine appears to form a salt bridge with an invariant aspartate residue.
16642017 We mapped fibrodysplasia ossificans progressiva to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1
11969340 distribution in gestational tissues across human pregnancy and during labour
17351709 Study examined 3 Japanese patients with Fibrodysplasia ossificans progressiva for ACVR1 mutations and identified the 617G>A mutation in all 3 patients; results suggest that the mutation in the ACVR1 gene is common and recurrent in the global population.

Interacting gene products

Interaction Type Gene 1 Gene 2 Interaction description Complex Publication Link
HPRDactivin A type I receptor precursorendoglin isoform 2 precursor--Pubmed
HPRDactivin A type I receptor precursorendoglin isoform 2 precursor--Pubmed
HPRDactivin A type I receptor precursorgrowth differentiation factor 5 preproprotein--Pubmed
HPRDactivin A type I receptor precursorgrowth differentiation factor 5 preproprotein--Pubmed
HPRDactivin A type I receptor precursorbone morphogenetic protein 2 preproprotein--Pubmed
HPRDactivin A type I receptor precursorbone morphogenetic protein 2 preproprotein--Pubmed
HPRDactivin A type I receptor precursorimmunoglobulin superfamily, member 1--Pubmed
HPRDactivin A type I receptor precursorimmunoglobulin superfamily, member 1--Pubmed
HPRDactivin A type I receptor precursorbone morphogenetic protein 7 precursor--Pubmed
HPRDactivin A type I receptor precursorbone morphogenetic protein 7 precursor--Pubmed

Recent Publications on ACVR1:

Pubmed Logo
The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization.
Patients with classic fibrodysplasia ossificans progressiva, a disorder...
27th October, 2009
J Clin Invest. 2009 Oct 12. pii: 37412. doi: 10.1172/JCI37412.
DOI Direct Link
Defining the Window of Germline Genesis In Vitro from Murine Embryonic Stem Cells.
BMP signaling is critical for germline establishment during mouse...
23rd October, 2009
Biol Reprod. 2009 Oct 21.
DOI Direct Link
Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients.
Carvalho DR, Navarro MMM, Martins BJAF, Coelho KEFA, Mello WD, Takata RI,...
3rd October, 2009
Genetic Unit, Sarah Rehabilitation Hospital, Belo Horizonte-MG, Sao Clin Genet. 2009 Oct 1.
DOI Direct Link
Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.
Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare...
2nd October, 2009
Department of Medical Genetics, National Institute of Health, 27 Avenue Clin Rheumatol. 2009 Oct 1.
DOI Direct Link
Bone morphogenetic protein 2 signals via BMPR1A to regulate murine follicle-stimulating hormone beta subunit transcription.
Follicle-stimulating hormone beta subunit (Fshb) expression is regulated...
23rd September, 2009
Department of Pharmacology and Therapeutics, McGill University, Montreal, Biol Reprod. 2009 Jul;81(1):133-41. Epub 2009 Feb 11.
DOI Direct Link

View more research publications.

BioNews Results for ACVR1

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Study provides first clear idea of how rare bone disease progresses
PhysOrg.com:  Nov 13 2009 10:43AM Matching: acvr1
Penn study provides first clear idea of how rare bone disease progresses
EurekAlert!:  Nov 12 2009 9:36PM Matching: acvr1

Patents:

Patents logo
US Patent No.Title
7612181 Dual variable domain immunoglobulin and uses thereof
6905827 Methods and compositions for diagnosing or monitoring auto immune and chronic inflammatory diseases
6994848 Lactobacillus paracasei strain GM-080 for treating allergy related diseases
7026121 Methods and compositions for diagnosing and monitoring transplant rejection
7208313 Combined growth factor-deleted and thymidine kinase-deleted vaccinia virus vector

View more patents.

ACVR1 results (if any) from reagent suppliers

Google CSE Logo
ACVR1 Antibody Activin receptor-like kinase 2
ACVR1 antibody can be used for detection of ACVR1 by Western blot at 1 – 2 μg/ml .,
http://www.prosci-inc.com/shop/catalog1/ACVR1-Antibody-p-675...

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Anti-Activin Receptor IA Polyclonal Antibody
The PA1-41185 immunogen is a synthetic peptide corresponding to residues 475-525 of human ACVR1. Activins are dimeric growth and differentiation factors ...
http://www.bioreagents.com/products/productDetails/productDe...

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Polyclonal Antibodies :: Page 5
ACVR1 Antibody, 4791, H, M, E, WB, Activin receptor-like kinase 2 ... ACVR1 Antibody, 49-257, M, R, WB, IHC, Activin A Receptor ...
http://www.prosci-inc.com/shop/catalog1/Polyclonal-Antibodie...

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TGFβ RI (T-19) Antibody sc-402
Mouse, Acvr1, 11477, 2 C1.1, NM_009370 · P37172, N/A. Mouse, Acvr1b, 11479, 15 F2, NM_009370 · Q61271, N/A. Mouse, Acvrl1, 11482, 15 F2, NM_009370 · Q61288 ...
http://www.scbt.com/datasheet-402-tgfbeta-ri-t-19-antibody.h...

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BMPR2 antibody (ab10862) | Abcam
These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily.
...
http://www.abcam.com/BMPR2-antibody-ab10862.html...

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ACTR-I (N-15) Antibody sc-5671
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, ACVR1, 90, 2q24.1, NM_001105 ...
http://www.scbt.com/datasheet-5671-actr-i-n-15-antibody.html...

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Activin Receptor Type IA antibody (ab47086) | Abcam
There are three type I Activin receptors:ACVR1, ACVR1B, and ACVR1C Each bind to a specific type II receptor-ligand complex. ...
http://www.abcam.com/Activin-Receptor-Type-IA-antibody-ab470...

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