HAX1
HCLS1-associated protein X-1 is a protein that in humans is encoded by the HAX1 gene.[1][2][3]
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.[3]
Severe congenital neutropenia
Homozygous mutations in HAX1 are associated with autosomal recessive severe congenital neutropenia[4], also known as Kostmann syndrome.
Interactions
HAX1 has been shown to interact with IL1A.[5]
References
- ^ Suzuki Y, Demoliere C, Kitamura D, Takeshita H, Deuschle U, Watanabe T (Apr 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.
- ^ Gallagher AR, Cedzich A, Gretz N, Somlo S, Witzgall R (May 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. doi:10.1073/pnas.97.8.4017. PMC 18134. PMID 10760273. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=18134.
- ^ a b "Entrez Gene: HAX1 HCLS1 associated protein X-1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10456.
- ^ Klein C, Grudzien M, Appaswamy G et al. (January 2007). "HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)". Nat. Genet. 39 (1): 86–92. doi:10.1038/ng1940. PMID 17187068.
- ^ Yin, H; Morioka H, Towle C A, Vidal M, Watanabe T, Weissbach L (Aug. 2001). "Evidence that HAX-1 is an interleukin-1 alpha N-terminal binding protein". Cytokine (United States) 15 (3): 122–37. doi:10.1006/cyto.2001.0891. ISSN 1043-4666. PMID 11554782.
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-1α-binding proteins contribute to biological functions of endogenous IL-1α in systemic sclerosis fibroblasts". Proc. Natl. Acad. Sci. U.S.A. 103 (39): 14501–6. doi:10.1073/pnas.0603545103. PMC 1599989. PMID 16971486. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1599989.
- 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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- 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.