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Activin Receptor Like Kinase 1 (ALK1)

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ACVRL1; ACVRLK1; HHT2; ORW2; SKR3; TSR-I; TGF-B superfamily receptor type I; Activin A Receptor Type II-Like 1; Serine/Threonine-Protein Kinase Receptor R3

Activin Receptor Like Kinase 1 (ALK1)
CCC B901
HGNC 175
MGI 1338946
PubMed 14580334
RGD 2029
UniProt P37023
Wiki ACVRL1

ACVRL1 encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail.

The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPB901Hu01 Recombinant Activin Receptor Like Kinase 1 (ALK1) Positive Control; Immunogen; SDS-PAGE; WB.
EPB901Hu61 Eukaryotic Activin Receptor Like Kinase 1 (ALK1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB901Hu01 Polyclonal Antibody to Activin Receptor Like Kinase 1 (ALK1) WB; IHC; ICC; IP.
MAB901Hu22 Monoclonal Antibody to Activin Receptor Like Kinase 1 (ALK1) WB; IHC; ICC; IP.
Assay Kits SEB901Hu ELISA Kit for Activin Receptor Like Kinase 1 (ALK1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Activin Receptor Like Kinase 1 (ALK1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Activin Receptor Like Kinase 1 (ALK1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Activin Receptor Like Kinase 1 (ALK1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Activin Receptor Like Kinase 1 (ALK1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Activin Receptor Like Kinase 1 (ALK1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Activin Receptor Like Kinase 1 (ALK1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Activin Receptor Like Kinase 1 (ALK1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Activin Receptor Like Kinase 1 (ALK1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Activin Receptor Like Kinase 1 (ALK1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Activin Receptor Like Kinase 1 (ALK1) ELISA Kit Customized Service Offer
  1. "Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity."Oncogene 8:2879-2887(1993) [PubMed] [Europe PMC] [Abstract]
  2. "Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors."Cell 75:671-680(1993) [PubMed] [Europe PMC] [Abstract]
  3. "The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2."Am. J. Hum. Genet. 61:60-67(1997) [PubMed] [Europe PMC] [Abstract]
  4. "The finished DNA sequence of human chromosome 12." Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties."Biochemistry 51:6328-6341(2012) [PubMed] [Europe PMC] [Abstract]
  7. "Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex."J. Biol. Chem. 287:27313-27325(2012) [PubMed] [Europe PMC] [Abstract]
  8. "Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2."Nat. Genet. 13:189-194(1996) [PubMed] [Europe PMC] [Abstract]
  9. "Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia."Hum. Mutat. 12:137-137(1998) [PubMed] [Europe PMC] [Abstract]
  10. "Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2."Hum. Mol. Genet. 9:1227-1237(2000) [PubMed] [Europe PMC] [Abstract]
  11. "Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families."Am. J. Med. Genet. 98:298-302(2001) [PubMed] [Europe PMC] [Abstract]
  12. "Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia."N. Engl. J. Med. 345:325-334(2001) [PubMed] [Europe PMC] [Abstract]
  13. "Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia."J. Med. Genet. 40:865-871(2003) [PubMed] [Europe PMC] [Abstract]
  14. ErratumJ. Med. Genet. 41:576-576(2004)
  15. "Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France."Hum. Mutat. 23:289-299(2004) [PubMed] [Europe PMC] [Abstract]
  16. "Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations."Hum. Mutat. 25:320-320(2005) [PubMed] [Europe PMC] [Abstract]
  17. "Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype."Hum. Mutat. 27:667-675(2006) [PubMed] [Europe PMC] [Abstract]
  18. "Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia."Int. J. Mol. Med. 17:655-659(2006) [PubMed] [Europe PMC] [Abstract]
  19. "Update on molecular diagnosis of hereditary hemorrhagic telangiectasia."Hum. Genet. 128:61-77(2010) [PubMed] [Europe PMC] [Abstract]