HAX1
HCLS1-associated protein X-1 is a protein that in humans is encoded by the HAX1 gene.[5][6][7]
In 2015, localization of the protein to P-bodies was demonstrated.[8]
Severe congenital neutropenia
Homozygous mutations in HAX1 are associated with autosomal recessive severe congenital neutropenia,[9] also known as Kostmann syndrome.
Interactions
HAX1 has been shown to interact with IL1A.[10] The protein has also been shown to interact with the 3' untranslated regions of vimentin and DNA polymerase B transcripts.[8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000143575 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027944 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ "Entrez Gene: HAX1 HCLS1 associated protein X-1".
- ^ a b Zayat V, Balcerak A, Korczynski J, Trebinska A, Wysocki J, Sarnowska E, Chmielarczyk M, Macech E, Konopiński R, Dziembowska M, Grzybowska EA (1 January 2015). "HAX-1: A Novel P-Body Protein". DNA and Cell Biology. 34: 43–54. doi:10.1089/dna.2014.2657. PMC 4281894. PMID 25289648.
- ^ 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.
{{cite journal}}: Unknown parameter|name-list-format=ignored (|name-list-style=suggested) (help) - ^ 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. 15 (3). United States: 122–37. doi:10.1006/cyto.2001.0891. ISSN 1043-4666. PMID 11554782.
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Further reading
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