Species Human Entrez 10456 | Human Mouse Ensembl ENSG00000143575 | |
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Aliases HAX1, HCLSBP1, HS1BP1, SCN3, HCLS1 associated protein X-1 External IDs MGI: 1346319 HomoloGene: 4463 GeneCards: HAX1 | ||
HCLS1-associated protein X-1 is a protein that in humans is encoded by the HAX1 gene.
Contents
The protein encoded by this gene is known to associate with HS1, a substrate of Src family tyrosine kinases. It also interacts with the product of PKD2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with 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. Two transcript variants encoding different isoforms have been found for this gene.
In 2015, localization of the protein to P-bodies was demonstrated.
Severe congenital neutropenia
Homozygous mutations in HAX1 are associated with autosomal recessive severe congenital neutropenia, also known as Kostmann syndrome.
Interactions
HAX1 has been shown to interact with IL1A. The protein has also been shown to interact with the 3' untranslated regions of vimentin and DNA polymerase B transcripts.