|Application ||WB, E|
|Other Accession||NP_001018238, 10456|
|Calculated MW||31621 Da|
|Other Names||HCLS1-associated protein X-1, HS1-associating protein X-1, HAX-1, HS1-binding protein 1, HSP1BP-1, HAX1, HS1BP1|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-HAX1 Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||Promotes cell survival. Potentiates GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. May regulate intracellular calcium pools.|
|Cellular Location||Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Cytoplasmic vesicle. Sarcoplasmic reticulum|
|Tissue Location||Ubiquitous. Up-regulated in oral cancers.|
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The protein encoded by this gene 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.
Pelota interacts with HAX1, EIF3G and SRPX and the resulting protein complexes are associated with the actin cytoskeleton. Burnicka-Turek O, et al. BMC Cell Biol, 2010 Apr 20. PMID 20406461.
Deregulation of mitochondrial membrane potential by mitochondrial insertion of granzyme B and direct Hax-1 cleavage. Han J, et al. J Biol Chem, 2010 Jul 16. PMID 20388708.
Molecular interaction between HAX-1 and XIAP inhibits apoptosis. Kang YJ, et al. Biochem Biophys Res Commun, 2010 Mar 19. PMID 20171186.
[Neurological findings in severe congenital neutropenia with HAX1 mutations] Ishikawa N, et al. No To Hattatsu, 2009 Nov. PMID 19928538.
A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease). Faiyaz-Ul-Haque M, et al. Clin Genet, 2009 Dec. PMID 19796188.
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