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Aliases for HAX1 Gene

Aliases for HAX1 Gene

  • HCLS1 Associated Protein X-1 2 3
  • 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
  • SCN3 3 6
  • HCLS1-Associated Protein X-1 3
  • HS1 Binding Protein 3
  • HCLSBP1 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 polycystic kidney disease 2. GO annotations related to this gene include protein N-terminus binding and interleukin-1 binding.

UniProtKB/Swiss-Prot for HAX1 Gene

  • Promotes cell survival. Potentiates 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. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HAX1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Interacts with CTTN. Interacts with PKD2. Interacts with GNA13. Interacts with CASP9. Interacts with ITGB6. Interacts with PLN and ATP2A2; these interactions are inhibited by calcium. Interacts with GRB7. Interacts (via C-terminus) with XIAP/BIRC4 (via BIR 2 domain and BIR 3 domain) and this interaction blocks ubiquitination of XIAP/BIRC4.

    Alternative splice isoforms for HAX1 Gene

neXtProt entry for HAX1 Gene

Proteomics data for HAX1 Gene at MOPED

Post-translational modifications for HAX1 Gene

  • Proteolytically cleaved by caspase-3 during apoptosis.
  • Ubiquitination at Lys131 and Lys205
  • Modification sites at PhosphoSitePlus

Other Protein References for HAX1 Gene

Antibody Products

No data available for DME Specific Peptides for HAX1 Gene

Domains 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 :
  • O00165
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: Promotes cell survival. Potentiates 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. 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:0019904 protein domain specific binding IEA --
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

Animal Models for HAX1 Gene

MGI Knock Outs for HAX1:

Animal Model Products

CRISPR Products

miRNA for HAX1 Gene

miRTarBase miRNAs that target HAX1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HAX1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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. Sarcoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HAX1 Gene COMPARTMENTS Subcellular localization image for HAX1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
nucleus 5
cytoskeleton 3
cytosol 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HAX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope TAS 9058808
GO:0005667 transcription factor complex IDA 23001182
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IDA 9058808
GO:0005741 mitochondrial outer membrane IDA 17008324
genes like me logo Genes that share ontologies with HAX1: view

Pathways for HAX1 Gene

SuperPathways 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 for HAX1 Gene

Transcripts for HAX1 Gene

Unigene Clusters for HAX1 Gene

HCLS1 associated protein X-1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HAX1

Primer 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 for HAX1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HAX1 Gene

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 expressions with HAX1: view

In Situ Assay Products

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 35
  • 99.64 (n)
  • 99.64 (a)
HAX1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HAX1 35
  • 88.97 (n)
  • 85.97 (a)
HAX1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
HAX1 35
  • 88.57 (n)
  • 83.39 (a)
mouse
(Mus musculus)
Mammalia Hax1 35
  • 84.9 (n)
  • 81.88 (a)
Hax1 16
Hax1 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HAX1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HAX1 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hax1 35
  • 84.78 (n)
  • 82.25 (a)
lizard
(Anolis carolinensis)
Reptilia HAX1 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485912 35
  • 50.8 (n)
  • 48.19 (a)
zebrafish
(Danio rerio)
Actinopterygii hax1 35
  • 52.29 (n)
  • 48.24 (a)
hax1 36
  • 40 (a)
OneToOne
Species with no ortholog for HAX1:
  • 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 MAF
rs13796 -- 154,273,441(+) CATAG(C/T)CCTCA intron-variant, synonymous-codon, reference
rs1113142 -- 154,276,030(+) AGAAA(A/G)TGATT downstream-variant-500B
rs1194593 -- 154,273,036(-) CTGTC(C/T)TATTC intron-variant
rs1194594 -- 154,272,378(+) GTCAA(A/G)CCCTC upstream-variant-2KB
rs1804715 - 154,275,693(+) TCCGG(C/T)CCCGG missense, reference

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

Variant ID Type Subtype PubMed ID
nsv521887 CNV Gain 19592680

Relevant External Links for HAX1 Gene

HapMap Linkage Disequilibrium report
HAX1
Human Gene Mutation Database (HGMD)
HAX1
Locus Specific Mutation Databases (LSDB)
HAX1

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

Disorders for HAX1 Gene

(1) OMIM Diseases for HAX1 Gene (605998)

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}.

(1) University of Copenhagen DISEASES for HAX1 Gene

Relevant External Links for HAX1

Genetic Association Database (GAD)
HAX1
Human Genome Epidemiology (HuGE) Navigator
HAX1
genes like me logo Genes that share disorders with HAX1: view

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 23
  2. 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 23
  3. 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 23
  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
  5. Galpha13 stimulates cell migration through cortactin-interacting protein Hax-1. (PMID: 15339924) Radhika V. … Dhanasekaran N. (J. Biol. Chem. 2004) 3 4

Products for HAX1 Gene

Sources for HAX1 Gene

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