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ACVRL1


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Symbol:ACVRL1
Name(s):activin A receptor type II-like 1
Type:protein-coding
Organism:Homo sapiens
Synonyms:ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I
Links: Pubmed, Entrez Gene, GeneCards, BioGPS, Map Viewer.

Gene Information from Publications

Publication Link Summary of findings
12920067 Observational study of gene-disease association. (HuGE Navigator)
16179574 Observational study of gene-disease association. (HuGE Navigator)
16705692 Observational study of genotype prevalence. (HuGE Navigator)
16752392 Observational study of genetic testing. (HuGE Navigator)
16776339 Observational study of gene-disease association. (HuGE Navigator)
17388964 Observational study of gene-disease association. (HuGE Navigator)
18187665 Observational study of gene-disease association. (HuGE Navigator)
18159113 ALK1 plays as notable a role as BMPR2 in the etiology of PAH. Asymptomatic carriers with the ALK1 mutation within the serine - threonine kinase domain are at risk of developing PAH and hereditary hemorrhagic telangiectasia
17620321 These results support a significant role for ALK1 as a negative regulator of endothelial cell migration and suggest the implication of JNK and ERK as mediators of this effect.
17786384 Mutation analysis in ENG and ACVRL1 genes was performed in hereditary hemorrhagic telangiectasia patients.

View more information from publications.

Interacting gene products

Interaction Type Gene 1 Gene 2 Interaction description Complex Publication Link
HPRDALK1transforming growth factor, beta 1--Pubmed
HPRDALK1transforming growth factor, beta receptor associated protein 1--Pubmed
HPRDactivin A receptor type II-like 1TGF beta 1--Pubmed
HPRDactivin A receptor type II-like 1TGF beta receptor associated protein 1--Pubmed
BINDactivin A receptor type II-like 1baculoviral IAP repeat-containing protein 4ALK1 interacts with XIAP. This interaction was modeled on a demonstrated interaction between ALK1 from an unspecified species and human XIAP.-Pubmed
HPRDactivin A receptor type II-like 1transforming growth factor, beta receptor II--Pubmed
HPRDactivin A receptor type II-like 1transforming growth factor, beta receptor II--Pubmed
HPRDactivin A receptor type II-like 1sorting nexin 6 isoform b--Pubmed

Recent Publications on ACVRL1:

Pubmed Logo
Hereditary haemorrhagic telangiectasia: a clinical and scientific review.
The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT)...
3rd October, 2009
NHLI Cardiovascular Sciences, Imperial College London, London, UK. Eur J Hum Genet. 2009 Jul;17(7):860-71. Epub 2009 Apr 1.
DOI Direct Link
Expression of vascular endothelial growth factor is coordinately regulated by the activin-like kinase receptors 1 and 5 in endothelial cells.
Expression of vascular endothelial growth factor (VEGF) is tightly...
23rd September, 2009
Division of Cardiology, David Geffen School of Medicine, University of Blood. 2009 Sep 3;114(10):2197-206. Epub 2009 Jun 8.
DOI Direct Link
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.
Hereditary hemorrhagic telangiectasia is an autosomal dominant disease...
22nd September, 2009
Associated Regional and University Pathologists (ARUP) Laboratories, 500 J Mol Diagn. 2009 Nov;11(6):569-75. Epub 2009 Sep 18.
DOI Direct Link
Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia.
BACKGROUND: Pulmonary arterial hypertension (PAH) has been linked to...
2nd September, 2009
Department of Cardiology, Children's Hospital Boston, 300 Longwood Avenue, Arch Dis Child. 2009 Jul;94(7):506-11. Epub 2009 Apr 8.
DOI Direct Link
Aggressive presentation of breast implant-associated ALK-1 negative anaplastic large cell lymphoma with bilateral axillary lymph node involvement.
The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT)...
28th August, 2009
Leuk Lymphoma. 2009 May;50(5):831-3.
DOI Direct Link

View more research publications.

Clinical Trials:

Clinical Trials Logo
Study of Bortezomib and Panobinostat in Treating Patients With Relapsed/Refractory Peripheral T-cell Lymphoma or NK/T-cell Lymphoma

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.

ACVRL1 results (if any) from reagent suppliers

Google CSE Logo
ACVRL1 antibody (ab10179) | Abcam
Goat polyclonal to ACVRL1. Protein kinases are enzymes that transfer a phosphate group from a phosphate donor, generally the g phosphate of ATP, ...
http://www.abcam.com/acvrl1-antibody-ab10179.html...

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GeneTex Inc. - Your source for monoclonal, polyclonal, primary ...
ACVRL1 antibody (activin A receptor type II-like 1), GTX100035, Rabbit PAb, WB, 100 μg, USD $269.00, -. ACVRL1 antibody (activin A receptor type II-like 1) ...
http://www.genetex.com/WebPage/Product/Catalog.aspx?Type=Sea...

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ACVRL1 antibodies: Signal Transduction > Protein Phosphorylation ...
ACVRL1 antibodies. ... ACVRL1 antibody. Fast Track. Goat polyclonal ... ACVRL1 antibody [RM0015-1B03]. WB, IHC-Fr. Rat monoclonal ...
http://www.abcam.com/index.html?t=56768&pt=1&c=2130&ei=&mu=r...

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Abgent - Cell and Function Antibodies
AP7807bNEW, ACVRL1 Antibody (C-term), WB, IHC, E, H. AP7807a, ACVRL1 Antibody (N -term), WB, IHC, E, IF†, H, M. AT1037a, ACY1 monoclonal antibody (M01) ...
http://www.abgent.com/products/category/cell_function...

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TGFβ RI (T-19) Antibody sc-402
Human, ACVRL1, 94, 12q13.13, NM_001130916, NM_004612 · P37023, n/a. Human, BMPR1A, 657, 10q23.2, NM_001130916, NM_004612 · P36894 ...
http://www.scbt.com/datasheet-402-tgfbeta-ri-t-19-antibody.h...

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Citations
ACVRL1 Antibody (N-term). Yu, Ming-Jiun, et al. LC-MS/MS Analysis of Apical and Basolateral Plasma Membranes of Rat Renal Collecting Duct Cells. Mol. Cell. ...
http://www.abgent.com/docs/citation...

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ALK-1 (D-20) Antibody sc-19546
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, ACVRL1, 94, 12q13.13, NM_000020 ...
http://www.scbt.com/datasheet-19546-alk-1-d-20-antibody.html...

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