HAX1 information

HAX1
Identifiers
Aliases	HAX1, HCLSBP1, HS1BP1, SCN3, HCLS1 associated protein X-1
External IDs	OMIM: 605998 MGI: 1346319 HomoloGene: 4463 GeneCards: HAX1
Gene location (Human)
Chr.	Chromosome 1 (human)
End	154,275,875 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	89,906,087 bp
RNA expression pattern
	Top expressed in
	right ventricle; ; left ventricle; ; pituitary gland; ; body of tongue; ; anterior pituitary; ; thoracic diaphragm; ; biceps brachii; ; parotid gland; ; triceps brachii muscle; ; body of pancreas;
	Top expressed in
	morula; ; pancreas; ; islet of Langerhans; ; proximal tubule; ; adrenal gland; ; yolk sac; ; kidney; ; ovary; ; liver; ; ganglionic eminence;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein N-terminus binding; protein binding; interleukin-1 binding;
Cellular component	cytoplasm; nuclear membrane; nuclear envelope; membrane; transcription regulator complex; mitochondrial intermembrane space; sarcoplasmic reticulum; mitochondrial outer membrane; endoplasmic reticulum; mitochondrion; actin cytoskeleton; cytoplasmic vesicle; nucleus; lamellipodium; P-body; plasma membrane; cell cortex;
Biological process	regulation of apoptotic process; positive regulation of protein kinase B signaling; mitochondrion organization; negative regulation of apoptotic process; cellular response to cytokine stimulus; positive regulation of peptidyl-serine phosphorylation; regulation of actin filament polymerization; regulation of autophagy of mitochondrion; regulation of protein targeting to mitochondrion; positive regulation of peptidyl-tyrosine phosphorylation; positive regulation of granulocyte differentiation; positive regulation of phosphatidylinositol 3-kinase signaling; positive regulation of actin cytoskeleton reorganization; positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	10456
	23897
	ENSG00000143575
	ENSMUSG00000027944
	O00165; Q5VYD6
	O35387
	NM_006118; NM_001018837
	NM_001282032; NM_011826; NM_001310681
	NP_001018238; NP_006109
	NP_001268961; NP_001297610; NP_035956
	Wikidata
View/Edit Human	View/Edit Mouse

HCLS1-associated protein X-1 is a protein that in humans is encoded by the HAX1 gene.^[5]^[6]^[7]

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.^[7]

In 2015, localization of the protein to P-bodies was demonstrated.^[8]

^ ^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. doi:10.4049/jimmunol.158.6.2736. 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. Bibcode:2000PNAS...97.4017G. doi:10.1073/pnas.97.8.4017. PMC 18134. PMID 10760273.
^ ^a ^b "Entrez Gene: HAX1 HCLS1 associated protein X-1".
^ 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 (1): 43–54. doi:10.1089/dna.2014.2657. PMC 4281894. PMID 25289648.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000143575 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027944 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9058808-5] 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. doi:10.4049/jimmunol.158.6.2736. PMID 9058808.

[pmid10760273-6] 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. Bibcode:2000PNAS...97.4017G. doi:10.1073/pnas.97.8.4017. PMC 18134. PMID 10760273.

[entrez-7] "Entrez Gene: HAX1 HCLS1 associated protein X-1".

[:0-8] 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 (1): 43–54. doi:10.1089/dna.2014.2657. PMC 4281894. PMID 25289648.

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