Description
Product Characteristics:
RelevanceHAX1 associates with HS1, binding to its N-terminal region. It is also known to associate with PKD2 (involved in polycystic kidney disease) and with cortactin/EMS1. HAX1 is also reported to bind to hairpin structures in vimentin and DNA polymerase beta mRNAs, so may play a role in mRNA stability and transport. It may also function in promoting cell survival. Defects in HAX1 are the cause of autosomal recessive severe congenital neutropenia 3 (SCN3) also called Kostmann disease.
Subcellular location: Cytoplasm, Nucleus, Cell membrane
Synonyms: HAX 1, Hax1a, HCLS1 and PKD2 associated protein, HCLS1 associated protein, HCLS1 associated protein X 1, HCLSBP1, HS 1 associated protein X 1, HS 1 binding protein, HS1 associating protein X 1, HS1 binding protein 1, HS1 binding protein, HS1BP1, SCN3.
Target Information: 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. [provided by RefSeq, Jul 2008]