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Aliases for HAX1 Gene

Aliases for HAX1 Gene

  • HCLS1 Associated Protein X-1 2 3 5
  • HCLS1 (And PKD2) Associated Protein 2 3
  • HS1-Associating Protein X-1 3 4
  • HS1-Binding Protein 1 3 4
  • HSP1BP-1 3 4
  • HS1BP1 3 4
  • HAX-1 3 4
  • HCLS1-Associated Protein X-1 3
  • HS1 Binding Protein 3
  • HCLSBP1 3
  • SCN3 3

External Ids for HAX1 Gene

Previous GeneCards Identifiers for HAX1 Gene

  • GC01P152062
  • GC01P149976
  • GC01P151020
  • GC01P151461
  • GC01P151058
  • GC01P152512
  • GC01P154244
  • GC01P125608

Summaries for HAX1 Gene

Entrez Gene Summary for HAX1 Gene

  • The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the 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. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for HAX1 Gene

HAX1 (HCLS1 Associated Protein X-1) is a Protein Coding gene. Diseases associated with HAX1 include Neutropenia, Severe Congenital 3, Autosomal Recessive and Severe Congenital Neutropenia. GO annotations related to this gene include protein domain specific binding and interleukin-1 binding.

UniProtKB/Swiss-Prot for HAX1 Gene

  • Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex (PubMed:26997484). Slows down the rate of inactivation of KCNC3 channels (PubMed:26997484). Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools.

Gene Wiki entry for HAX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAX1 Gene

Genomics for HAX1 Gene

Regulatory Elements for HAX1 Gene

Enhancers for HAX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F154177 1.6 FANTOM5 ENCODE 10.1 -91.6 -91631 6.8 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 NUP210L ENSG00000224784 MIR4258 PYGO2 UBAP2L ENSG00000272654 LOC101928120 C1orf189 ENSG00000201129 HAX1
GH01F154270 1.1 ENCODE 13.5 -0.1 -102 3.3 HDGF PKNOX1 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 HAX1 CHTOP S100A4 EFNA4 DCST1 THBS3 SCAMP3 ENSG00000272030 SLC27A3 C1orf43
GH01F154218 1.2 ENCODE 10.9 -51.8 -51796 5.0 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 MIR4258 ENSG00000224784 NUP210L HAX1 C1orf43 CREB3L4 S100A3 UBAP2L
GH01F153961 1.5 FANTOM5 ENCODE 8.4 -309.2 -309216 4.0 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS CREB3L4 RAB13 RPS27 RPL34P5 ILF2 GATAD2B HAX1 C1orf189 JTB S100A16
GH01F154190 1.4 FANTOM5 Ensembl ENCODE 8.3 -80.2 -80203 4.3 SOX13 SIX4 ESRRA PKNOX1 TAL1 CEBPG GATA3 CTBP1 ELK1 RCOR1 HAX1 C1orf189 TDRD10 NUP210L CHRNB2 MIR190B RN7SL431P GC01M154167
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HAX1 on UCSC Golden Path with GeneCards custom track

Promoters for HAX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001405019 89 1601 HDGF PKNOX1 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for HAX1 Gene

Chromosome:
1
Start:
154,272,511 bp from pter
End:
154,275,875 bp from pter
Size:
3,365 bases
Orientation:
Plus strand

Genomic View for HAX1 Gene

Genes around HAX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAX1 Gene

Proteins for HAX1 Gene

  • Protein details for HAX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00165-HAX1_HUMAN
    Recommended name:
    HCLS1-associated protein X-1
    Protein Accession:
    O00165
    Secondary Accessions:
    • A8W4W9
    • A8W4X0
    • B4DUJ7
    • Q5VYD5
    • Q5VYD7
    • Q96AU4
    • Q9BS80

    Protein attributes for HAX1 Gene

    Size:
    279 amino acids
    Molecular mass:
    31621 Da
    Quaternary structure:
    • Interacts with ABCB1, ABCB4 and ABCB11 (By similarity). Directly associates with HCLS1/HS1, through binding to its N-terminal region (PubMed:9058808). Interacts with CTTN (By similarity). Interacts with PKD2 (PubMed:10760273). Interacts with GNA13 (PubMed:15339924). Interacts with CASP9 (PubMed:16857965). Interacts with ITGB6 (PubMed:17545607). Interacts with PLN and ATP2A2; these interactions are inhibited by calcium (PubMed:17241641, PubMed:18971376). Interacts with GRB7 (PubMed:20665473). Interacts (via C-terminus) with XIAP/BIRC4 (via BIR 2 domain and BIR 3 domain) and this interaction blocks ubiquitination of XIAP/BIRC4 (PubMed:20171186). Interacts with TPC2 (PubMed:24188827). Interacts with KCNC3 (PubMed:26997484). Interacts with XPO1 (PubMed:23164465).

    Alternative splice isoforms for HAX1 Gene

neXtProt entry for HAX1 Gene

Post-translational modifications for HAX1 Gene

  • Proteolytically cleaved by caspase-3 during apoptosis.
  • Ubiquitination at Lys 131 and Lys 205
  • Modification sites at PhosphoSitePlus

Other Protein References for HAX1 Gene

Antibody Products

  • Abcam antibodies for HAX1
  • Santa Cruz Biotechnology (SCBT) Antibodies for HAX1

No data available for DME Specific Peptides for HAX1 Gene

Domains & Families for HAX1 Gene

Protein Domains for HAX1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HAX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00165

UniProtKB/Swiss-Prot:

HAX1_HUMAN :
  • Belongs to the HAX1 family.
Family:
  • Belongs to the HAX1 family.
genes like me logo Genes that share domains with HAX1: view

No data available for Gene Families for HAX1 Gene

Function for HAX1 Gene

Molecular function for HAX1 Gene

UniProtKB/Swiss-Prot Function:
Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex (PubMed:26997484). Slows down the rate of inactivation of KCNC3 channels (PubMed:26997484). Promotes GNA13-mediated cell migration. Involved in the clathrin-mediated endocytosis pathway. May be involved in internalization of ABC transporters such as ABCB11. May inhibit CASP9 and CASP3. Promotes cell survival. May regulate intracellular calcium pools.

Gene Ontology (GO) - Molecular Function for HAX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17008324
GO:0019966 interleukin-1 binding IDA 11554782
GO:0047485 protein N-terminus binding IDA 11554782
genes like me logo Genes that share ontologies with HAX1: view
genes like me logo Genes that share phenotypes with HAX1: view

Human Phenotype Ontology for HAX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HAX1 Gene

MGI Knock Outs for HAX1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HAX1 Gene

Localization for HAX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HAX1 Gene

Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Cytoplasmic vesicle. Cytoplasm, cell cortex. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Sarcoplasmic reticulum. Cytoplasm, P-body.
Isoform 1: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Also detected in the nucleus when nuclear export is inhibited, and in response to cellular stress caused by arsenite (in vitro). {ECO:0000269 PubMed:23164465}.
Isoform 3: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Also detected in the nucleus when nuclear export is inhibited (in vitro). {ECO:0000269 PubMed:23164465}.
Isoform 4: Cytoplasm. Nucleus. Note=Shuttles between nucleus and cytoplasm. {ECO:0000269 PubMed:23164465}.
Isoform 5: Cytoplasm. Note=Predominantly cytoplasmic. {ECO:0000269 PubMed:23164465}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HAX1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytoskeleton 4
endoplasmic reticulum 4
plasma membrane 3
cytosol 3
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HAX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 cytoplasmic mRNA processing body IEA --
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS 9058808
GO:0005667 transcription factor complex IDA 23001182
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with HAX1: view

Pathways & Interactions for HAX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HAX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 NOT mitochondrion organization IMP 17008324
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IMP 23001182
GO:0030833 regulation of actin filament polymerization IMP 23001182
GO:0030854 positive regulation of granulocyte differentiation IMP 23001182
GO:0033138 positive regulation of peptidyl-serine phosphorylation IMP 23001182
genes like me logo Genes that share ontologies with HAX1: view

No data available for Pathways by source and SIGNOR curated interactions for HAX1 Gene

Transcripts for HAX1 Gene

Unigene Clusters for HAX1 Gene

HCLS1 associated protein X-1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HAX1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -
SP3:

Relevant External Links for HAX1 Gene

GeneLoc Exon Structure for
HAX1
ECgene alternative splicing isoforms for
HAX1

Expression for HAX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HAX1 Gene

Protein differential expression in normal tissues from HIPED for HAX1 Gene

This gene is overexpressed in Bone (41.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HAX1 Gene



Protein tissue co-expression partners for HAX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HAX1 Gene:

HAX1

SOURCE GeneReport for Unigene cluster for HAX1 Gene:

Hs.199625

mRNA Expression by UniProt/SwissProt for HAX1 Gene:

O00165-HAX1_HUMAN
Tissue specificity: Ubiquitous. Up-regulated in oral cancers.
genes like me logo Genes that share expression patterns with HAX1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HAX1 Gene

Orthologs for HAX1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HAX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAX1 34 35
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia HAX1 34 35
  • 88.97 (n)
dog
(Canis familiaris)
Mammalia HAX1 34
  • 88.57 (n)
-- 35
  • 83 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Hax1 34 16 35
  • 84.9 (n)
rat
(Rattus norvegicus)
Mammalia Hax1 34
  • 84.78 (n)
oppossum
(Monodelphis domestica)
Mammalia HAX1 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAX1 35
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAX1 35
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485912 34
  • 50.8 (n)
zebrafish
(Danio rerio)
Actinopterygii hax1 34 35
  • 52.29 (n)
Species where no ortholog for HAX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HAX1 Gene

ENSEMBL:
Gene Tree for HAX1 (if available)
TreeFam:
Gene Tree for HAX1 (if available)

Paralogs for HAX1 Gene

Pseudogenes.org Pseudogenes for HAX1 Gene

genes like me logo Genes that share paralogs with HAX1: view

No data available for Paralogs for HAX1 Gene

Variants for HAX1 Gene

Sequence variations from dbSNP and Humsavar for HAX1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs141970914 Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738], untested 154,274,959(+) ATGAT(A/G)TATGG reference, missense
rs179363870 Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738], untested 154,273,878(+) GGATC(C/T)TTGGG reference, missense
rs179363871 Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738], untested 154,273,846(+) AATGC(G/T)TAAGT reference, missense
rs121908165 Pathogenic 154,273,538(+) TAGTA(C/T)GAGAT reference, stop-gained
rs74315322 Pathogenic 154,275,165(+) ATTCC(C/T)AGGTT reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for HAX1 Gene

Variant ID Type Subtype PubMed ID
nsv521887 CNV gain 19592680

Variation tolerance for HAX1 Gene

Residual Variation Intolerance Score: 55.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.89; 18.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HAX1 Gene

Human Gene Mutation Database (HGMD)
HAX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAX1 Gene

Disorders for HAX1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for HAX1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
neutropenia, severe congenital 3, autosomal recessive
  • neutropenia, severe congenital, 3, autosomal recessive
severe congenital neutropenia
  • kostmann disease
neutropenia
  • leukopenia
polycystic kidney disease 2
  • adpkd2
spinocerebellar ataxia 13
  • spinocerebellar ataxia type 13
- elite association - COSMIC cancer census association via MalaCards
Search HAX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HAX1_HUMAN
  • Neutropenia, severe congenital 3, autosomal recessive (SCN3) [MIM:610738]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Some patients affected by severe congenital neutropenia type 3 have neurological manifestations such as psychomotor retardation and seizures. {ECO:0000269 PubMed:17187068, ECO:0000269 PubMed:18337561, ECO:0000269 PubMed:19796188, ECO:0000269 PubMed:20220065}. Note=The disease is caused by mutations affecting the gene represented in this entry. The clinical phenotype due to HAX1 deficiency appears to depend on the localization of the mutations and their influence on the transcript variants. Mutations affecting exclusively isoform 1 are associated with isolated congenital neutropenia, whereas mutations affecting both isoform 1 and isoform 5 are associated with additional neurologic symptoms (PubMed:18337561). {ECO:0000269 PubMed:18337561}.

Relevant External Links for HAX1

Genetic Association Database (GAD)
HAX1
Human Genome Epidemiology (HuGE) Navigator
HAX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAX1
genes like me logo Genes that share disorders with HAX1: view

No data available for Genatlas for HAX1 Gene

Publications for HAX1 Gene

  1. The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. (PMID: 10760273) Gallagher A.R. … Witzgall R. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4 22 64
  2. The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival. (PMID: 18971376) Vafiadaki E. … Kranias E.G. (Mol. Biol. Cell 2009) 3 4 22 64
  3. Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues. (PMID: 18472110) Lees D.M. … Marshall J.F. (J. Mol. Biol. 2008) 3 4 22 64
  4. HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases. (PMID: 9058808) Suzuki Y. … Watanabe T. (J. Immunol. 1997) 2 3 4 64
  5. Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating. (PMID: 26997484) Zhang Y. … Kaczmarek L.K. (Cell 2016) 3 4 64

Products for HAX1 Gene

Sources for HAX1 Gene

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