Symbol: Name: ID: |
HAX1 HCLS1 associated protein X-1 GFS:6001 |
Gene name: | HAX1 |
Chromosome: | 1q21.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | HS1BP1, HCLSBP1 |
Name Aliases: | HCLS1 (and PKD2) associated protein |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1346319 | Rat Genome Database ID: | RGD:727960 |
HGNC ID: | HGNC:16915 | RefSeq IDs: | NM_001018837 |
Entrez Gene ID: | 10456 | Ensembl Gene ID: | |
VEGA IDs: | OTTHUMG00000035978 | UniProt ID: | O00165 |
UCSC ID: | uc001fes.2 | OMIM ID: | 605998 |
Pubmed: | PMID9058808 PMID 10760273 | ||
CCDS IDs: | CCDSCCDS1064.1 CCDS CCDS44230.1 |
HCLS1-associated protein X-1 is a protein that in humans is encoded by the HAX1 gene.
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].
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.
Products for HAX1 gene
Catalog | Product Name | Application | Company |
GFS:E06001 | HCLS1 associated protein X-1; ELISA kit | ELISA | n/a |
GFS:A06001 | HCLS1 associated protein X-1; Anti | ANTIBODIES | n/a |
GFS:P06001 | HCLS1 associated protein X-1; Protien | Protien | n/a |