HAX1

HAX1
Identifiers
Aliases	HAX1, HCLSBP1, HS1BP1, SCN3, HCLS1 associated protein X-1
External IDs	OMIM: 605998; MGI: 1346319; HomoloGene: 4463; GeneCards: HAX1; OMA:HAX1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.3 Start 154,272,589 bp[1] End 154,275,875 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F1 Start 89,902,753 bp[2] End 89,906,087 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart right ventricle muscle of thigh left ventricle pituitary gland body of tongue anterior pituitary beta cell thoracic diaphragm muscle of arm Top expressed in morula epiblast pancreas islet of Langerhans primary oocyte proximal tubule adrenal gland right kidney yolk sac embryo More reference expression data BioGPS 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 Species Human Mouse Entrez 10456 23897 Ensembl ENSG00000143575 ENSMUSG00000027944 UniProt O00165 Q5VYD6 O35387 RefSeq (mRNA) NM_006118 NM_001018837 NM_001282032 NM_011826 NM_001310681 RefSeq (protein) NP_001018238 NP_006109 NP_001268961 NP_001297610 NP_035956 Location (UCSC) Chr 1: 154.27 – 154.28 Mb Chr 3: 89.9 – 89.91 Mb PubMed search [3] [4]
Wikidata
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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]

Severe congenital neutropenia

Homozygous mutations in HAX1 are associated with autosomal recessive severe congenital neutropenia.^[9]

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] The protein has been shown to interact with the mitochondrial protein disaggregase Skd3 and Skd3 has been shown to be essential for HAX1 solubility within mitochondria.^[11]

References

Further reading