HAX1
Protein-coding gene in humans
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 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.
01Severe congenital neutropenia
Homozygous mutations in HAX1 are associated with autosomal recessive severe congenital neutropenia.
02Interactions
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. The protein has been shown to interact with the mitochondrial protein disaggregase Skd3 and Skd3 has been shown to be essential for HAX1 solubility within mitochondria.
Sources and credits
This article is adapted from the Wikipedia article “HAX1”, written by its contributors and licensed under CC BY-SA 4.0. Fathomly has changed the layout, removed citation markers, navigation and maintenance notices, and adjusted punctuation. This adapted version is shared under the same license. For references, see the original article.
Images, from Wikimedia Commons:
- Ideogram human chromosome 1.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
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