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HCLS1 Associated Protein X1 (HAX1)

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HCLSBP1; HS1BP1; HS1-binding protein 1

HCLS1 Associated Protein X1 (HAX1)
CCC J967
HGNC 16915
MGI 1346319
PubMed 19120359
RGD 727960
UniProt O00165
Wiki HAX1
HCLS1 Associated Protein X1 is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin.
It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant HCLS1 Associated Protein X1 (HAX1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to HCLS1 Associated Protein X1 (HAX1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to HCLS1 Associated Protein X1 (HAX1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for HCLS1 Associated Protein X1 (HAX1) CLIA Kit Customized Service Offer
n/a ELISA Kit for HCLS1 Associated Protein X1 (HAX1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant HCLS1 Associated Protein X1 (HAX1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to HCLS1 Associated Protein X1 (HAX1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to HCLS1 Associated Protein X1 (HAX1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for HCLS1 Associated Protein X1 (HAX1) CLIA Kit Customized Service Offer
n/a ELISA Kit for HCLS1 Associated Protein X1 (HAX1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant HCLS1 Associated Protein X1 (HAX1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to HCLS1 Associated Protein X1 (HAX1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to HCLS1 Associated Protein X1 (HAX1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for HCLS1 Associated Protein X1 (HAX1) CLIA Kit Customized Service Offer
n/a ELISA Kit for HCLS1 Associated Protein X1 (HAX1) ELISA Kit Customized Service Offer
  1. "HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases."J. Immunol. 158:2736-2744(1997) [PubMed] [Europe PMC] [Abstract]
  2. "Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues."J. Mol. Biol. 379:645-655(2008) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(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. , Submitted (JUL-2007) to UniProtKB
  7. "The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton."Proc. Natl. Acad. Sci. U.S.A. 97:4017-4022(2000) [PubMed] [Europe PMC] [Abstract]
  8. "Galpha13 stimulates cell migration through cortactin-interacting protein Hax-1."J. Biol. Chem. 279:49406-49413(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Overexpression of HAX-1 protects cardiac myocytes from apoptosis through caspase-9 inhibition."Circ. Res. 99:415-423(2006) [PubMed] [Europe PMC] [Abstract]
  10. "HS1-associated protein X-1 regulates carcinoma cell migration and invasion via clathrin-mediated endocytosis of integrin alphavbeta6."Cancer Res. 67:5275-5284(2007) [PubMed] [Europe PMC] [Abstract]
  11. "Phospholamban interacts with HAX-1, a mitochondrial protein with anti-apoptotic function."J. Mol. Biol. 367:65-79(2007) [PubMed] [Europe PMC] [Abstract]
  12. "HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)."Nat. Genet. 39:86-92(2007) [PubMed] [Europe PMC] [Abstract]
  13. "Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations."Blood 111:4954-4957(2008) [PubMed] [Europe PMC] [Abstract]
  14. "HS 1-associated protein X-1 is cleaved by caspase-3 during apoptosis."Mol. Cells 25:86-90(2008) [PubMed] [Europe PMC] [Abstract]
  15. "The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival."Mol. Biol. Cell 20:306-318(2009) [PubMed] [Europe PMC] [Abstract]
  16. "Molecular interaction between HAX-1 and XIAP inhibits apoptosis."Biochem. Biophys. Res. Commun. 393:794-799(2010) [PubMed] [Europe PMC] [Abstract]
  17. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  18. "Grb7 binds to Hax-1 and undergoes an intramolecular domain association that offers a model for Grb7 regulation."J. Mol. Recognit. 24:314-321(2011) [PubMed] [Europe PMC] [Abstract]
  19. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  20. "A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease)."Clin. Genet. 76:569-572(2009) [PubMed] [Europe PMC] [Abstract]
  21. "Digenic mutations in severe congenital neutropenia."Haematologica 95:1207-1210(2010) [PubMed] [Europe PMC] [Abstract]