HAX1

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HAX1
Identifiers
Aliases HAX1, HCLSBP1, HS1BP1, SCN3, HCLS1 associated protein X-1
External IDs MGI: 1346319 HomoloGene: 4463 GeneCards: HAX1
RNA expression pattern
PBB GE HAX1 201145 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006118
NM_001018837

NM_001282032
NM_011826
NM_001310681

RefSeq (protein)

NP_001018238
NP_006109

NP_035956.1
NP_001268961
NP_001297610
NP_035956

Location (UCSC) Chr 1: 154.27 – 154.28 Mb Chr 3: 90 – 90 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

HCLS1-associated protein X-1 is a protein that in humans is encoded by the HAX1 gene.[3][4][5]

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.[5]

In 2015, localization of the protein to P-bodies was demonstrated.[6]

Severe congenital neutropenia[edit]

Homozygous mutations in HAX1 are associated with autosomal recessive severe congenital neutropenia,[7] also known as Kostmann syndrome.

Interactions[edit]

HAX1 has been shown to interact with IL1A.[8] The protein has also been shown to interact with the 3' untranslated regions of vimentin and DNA polymerase B transcripts.[6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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 18134Freely accessible. PMID 10760273. 
  5. ^ a b "Entrez Gene: HAX1 HCLS1 associated protein X-1". 
  6. ^ 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 4281894Freely accessible. PMID 25289648. 
  7. ^ 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. 
  8. ^ 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[edit]