HAX1

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HCLS1 associated protein X-1
Identifiers
Symbols HAX1 ; HCLSBP1; HS1BP1
External IDs Template:OMIM5 Template:MGI HomoloGene4463
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

HCLS1 associated protein X-1, also known as HAX1, is a human gene.[1]

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.[1]

References

  1. 1.0 1.1 "Entrez Gene: HAX1 HCLS1 associated protein X-1".

Further reading

  • Modem S, Reddy TR (2007). "An anti-apoptotic protein, Hax-1, inhibits the HIV-1 rev function by altering its sub-cellular localization". J. Cell. Physiol. 214 (1): 14–9. doi:10.1002/jcp.21305. PMID 17929250.
  • Klein C, Grudzien M, Appaswamy G; et al. (2007). "HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)". Nat. Genet. 39 (1): 86–92. doi:10.1038/ng1940. PMID 17187068.
  • Kawaguchi Y, Nishimagi E, Tochimoto A; et al. (2006). "Intracellular IL-1alpha-binding proteins contribute to biological functions of endogenous IL-1alpha in systemic sclerosis fibroblasts". Proc. Natl. Acad. Sci. U.S.A. 103 (39): 14501–6. doi:10.1073/pnas.0603545103. PMID 16971486.
  • Han Y, Chen YS, Liu Z; et al. (2006). "Overexpression of HAX-1 protects cardiac myocytes from apoptosis through caspase-9 inhibition". Circ. Res. 99 (4): 415–23. doi:10.1161/01.RES.0000237387.05259.a5. PMID 16857965.
  • Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Ortiz DF, Moseley J, Calderon G; et al. (2004). "Identification of HAX-1 as a protein that binds bile salt export protein and regulates its abundance in the apical membrane of Madin-Darby canine kidney cells". J. Biol. Chem. 279 (31): 32761–70. doi:10.1074/jbc.M404337200. PMID 15159385.
  • Bouwmeester T, Bauch A, Ruffner H; et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol. 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216.
  • Mirmohammadsadegh A, Tartler U, Michel G; et al. (2003). "HAX-1, identified by differential display reverse transcription polymerase chain reaction, is overexpressed in lesional psoriasis". J. Invest. Dermatol. 120 (6): 1045–51. doi:10.1046/j.1523-1747.2003.12247.x. PMID 12787133.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Yin H, Morioka H, Towle CA; et al. (2001). "Evidence that HAX-1 is an interleukin-1 alpha N-terminal binding protein". Cytokine. 15 (3): 122–37. doi:10.1006/cyto.2001.0891. PMID 11554782.
  • Gallagher AR, Cedzich A, Gretz N; et al. (2000). "The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton". Proc. Natl. Acad. Sci. U.S.A. 97 (8): 4017–22. PMID 10760273.
  • Suzuki Y, Demoliere C, Kitamura D; et al. (1997). "HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases". J. Immunol. 158 (6): 2736–44. PMID 9058808.

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