|Other Names||HCLS1-associated protein X-1, HS1-associating protein X-1, HAX-1, HS1-binding protein 1, HSP1BP-1, HAX1, HS1BP1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. 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 associatewith hematopoietic cell-specific Lyn substrate 1, a substrate ofSrc family tyrosine kinases. It also interacts with the product ofthe polycystic kidney disease 2 gene, mutations in which areassociated with autosomal-dominant polycystic kidney disease, andwith the F-actin-binding protein, cortactin. It was earlier thoughtthat this gene product is mainly localized in the mitochondria,however, recent studies indicate it to be localized in the cellbody. Mutations in this gene result in autosomal recessive severecongenital neutropenia, also known as Kostmann disease. Twotranscript variants encoding different isoforms have been found forthis gene.
Johns, H.L., et al. J. Gen. Virol. 91 (PT 11), 2677-2686 (2010) :Mekkawy, A.H., et al. Biochem. Biophys. Res. Commun. 399(4):738-743(2010)Han, J., et al. J. Biol. Chem. 285(29):22461-22472(2010)Germeshausen, M., et al. Haematologica 95(7):1207-1210(2010)Burnicka-Turek, O., et al. BMC Cell Biol. 11, 28 (2010) :
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