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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. Gene Ontology (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

Additional gene information for HAX1 Gene

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

Genomics for HAX1 Gene

GeneHancer (GH) Regulatory Elements for HAX1 Gene

Promoters and enhancers for HAX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J154270 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 663.4 -0.1 -101 3.3 HDGF FOXA2 PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 HAX1 UBAP2L CHTOP CRTC2 CREB3L4 FLAD1 INTS3 THBS3 SHC1 SLC27A3
GH01J154177 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 -91.6 -91631 6.8 CLOCK ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 TPM3 UBAP2L CRTC2 CHTOP NUP210L LOC101928120 SLC27A3 FLAD1 ILF2 INTS3
GH01J154218 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.9 -51.8 -51796 5 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 NFYC UBAP2L C1orf43 CREB3L4 CHTOP INTS3 THBS3 SLC27A3 KRTCAP2 CRTC2 MIR4258
GH01J153961 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.4 -309.2 -309216 4 HDGF PKNOX1 SMAD1 ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B CRTC2 ENSG00000282386 MIR6737 SLC39A1 ILF2 CREB3L4 UBAP2L RAB13 RPS27 RPL34P5
GH01J153919 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.1 -350.7 -350719 5.4 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B GATAD2B LOC101928059 UBAP2L CRTC2 ILF2 INTS3 CHTOP CREB3L4 SLC27A3 ENSG00000272654
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HAX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HAX1 gene promoter:
  • Ik-1
  • Pax-4a
  • AML1a
  • CUTL1
  • FOXO1
  • FOXO1a
  • POU2F1
  • POU2F1a

Genomic Locations for HAX1 Gene

Genomic Locations for HAX1 Gene
chr1:154,272,511-154,275,875
(GRCh38/hg38)
Size:
3,365 bases
Orientation:
Plus strand
chr1:154,244,987-154,248,351
(GRCh37/hg19)
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 isoforms=2, 3, 5205 and Lys131
  • Modification sites at PhosphoSitePlus

Other Protein References for HAX1 Gene

No data available for DME Specific Peptides for HAX1 Gene

Domains & Families for HAX1 Gene

Gene Families for HAX1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for HAX1 Gene

Gene Ontology (GO) - Molecular Function for HAX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16227293
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:
  • Hax1 Hax1<tm1Jni>
  • Hax1 Hax1<tm1.1Gach>

Animal Model Products

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HAX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-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

Drugs & Compounds for HAX1 Gene

No Compound Related Data Available

Transcripts for HAX1 Gene

mRNA/cDNA for HAX1 Gene

Unigene Clusters for HAX1 Gene

HCLS1 associated protein X-1:
Representative Sequences:

Clone 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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for HAX1 Gene

  • Nervous system(4.9)
  • Lung(4.7)
  • Skin(4.7)
  • Heart(4.5)
  • Muscle(4.5)
  • Liver(4.4)
  • Blood(2.8)
  • Eye(2.7)
  • Pancreas(2.7)
  • Bone marrow(2.2)
  • Intestine(2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HAX1 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • immune
Regions:
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
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 33
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HAX1 34 33
  • 88.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HAX1 33
  • 88.57 (n)
-- 34
  • 83 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Hax1 16 34 33
  • 84.9 (n)
rat
(Rattus norvegicus)
Mammalia Hax1 33
  • 84.78 (n)
oppossum
(Monodelphis domestica)
Mammalia HAX1 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAX1 34
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HAX1 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485912 33
  • 50.8 (n)
zebrafish
(Danio rerio)
Actinopterygii hax1 34 33
  • 52.29 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for HAX1: view image

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 Variation AA Info Type
rs1053707132 uncertain-significance, Severe congenital neutropenia 154,273,815(+) C/T coding_sequence_variant, missense_variant
rs11265425 benign, Severe congenital neutropenia 154,272,666(+) T/G 5_prime_UTR_variant
rs115683875 likely-benign, not specified, Severe congenital neutropenia 154,272,790(+) C/T intron_variant
rs121908165 pathogenic, Severe congenital neutropenia 3, autosomal recessive 154,273,538(+) C/G/T coding_sequence_variant, missense_variant, stop_gained
rs13796 benign, likely-benign, not specified, Severe congenital neutropenia 154,273,441(+) T/C coding_sequence_variant, intron_variant, synonymous_variant

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)

Additional Variant Information for HAX1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HAX1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for HAX1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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}.

Additional Disease Information for HAX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 AR … Witzgall R (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 22 58
  2. The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival. (PMID: 18971376) Vafiadaki E … Kranias EG (Molecular biology of the cell 2009) 3 4 22 58
  3. Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues. (PMID: 18472110) Lees DM … Marshall JF (Journal of molecular biology 2008) 3 4 22 58
  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 (Journal of immunology (Baltimore, Md. : 1950) 1997) 2 3 4 58
  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 LK (Cell 2016) 3 4 58

Products for HAX1 Gene

Sources for HAX1 Gene

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