Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



HAX1 Gene

protein-coding   GIFtS: 63
GCID: GC01P154244

HCLS1 Associated Protein X-1

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
HCLS1 Associated Protein X-11 2     HS1-Binding Protein 12 3
HCLS1 (And PKD2) Associated Protein1 2     SCN32 5
HAX-12 3     HCLSBP12
HS1BP12 3     HCLS1-Associated Protein X-12
HSP1BP-12 3     HS1 Binding Protein2
HS1-Associating Protein X-12 3     

External Ids:    HGNC: 169151   Entrez Gene: 104562   Ensembl: ENSG000001435757   OMIM: 6059985   UniProtKB: O001653   
ORGUL members:         

Export aliases for HAX1 gene to outside databases

Previous GC identifers: GC01P152062 GC01P149976 GC01P151020 GC01P151461 GC01P151058 GC01P152512 GC01P125608


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 severe congenital neutropenia autosomal recessive 3, and severe congenital neutropenia. GO annotations related to this gene include interleukin-1 binding and protein N-terminus binding.

UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165
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 Wiki entry for HAX1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the HAX1 gene promoter:
         POU2F1   AML1a   POU2F1a   FOXO1a   CUTL1   Pax-4a   FOXO1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHAX1 promoter sequence
   Search Chromatin IP Primers for HAX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HAX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.3   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21.3

HAX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HAX1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P154244:  view genomic region     (about GC identifiers)

Start:
154,244,987 bp from pter      End:
154,248,351 bp from pter
Size:
3,365 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165 (See protein sequence)
Recommended Name: HCLS1-associated protein X-1  
Size: 279 amino acids; 31621 Da
Subunit: 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
Secondary accessions: A8W4W9 A8W4X0 B4DUJ7 Q5VYD5 Q5VYD7 Q96AU4 Q9BS80
Alternative splicing: 6 isoforms:  O00165-1   O00165-2   O00165-3   O00165-4   O00165-5   O00165-6   

Explore the universe of human proteins at neXtProt for HAX1: NX_O00165

Explore proteomics data for HAX1 at MOPED

Post-translational modifications: 

  • Proteolytically cleaved by caspase-3 during apoptosis1
  • Ubiquitination2 at Lys131, Lys205
  • Modification sites at PhosphoSitePlus

  • See HAX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001018238.1  NP_006109.2  

    ENSEMBL proteins: 
     ENSP00000329002   ENSP00000411448   ENSP00000435088   ENSP00000403848   ENSP00000394920  
     ENSP00000433951  

    HAX1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HAX1
    OriGene Protein Over-expression Lysate for HAX1
    OriGene MassSpec for HAX1
    OriGene Custom Protein Services for HAX1
    GenScript Custom Purified and Recombinant Proteins Services for HAX1
    Novus Biologicals HAX1 Proteins
    Novus Biologicals HAX1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for HAX1
    Cloud-Clone Corp. Proteins for HAX1

    HAX1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HAX1
    R&D Systems Antibodies for HAX1 (HAX-1)
    OriGene Antibodies for HAX1
    OriGene Custom Antibody Services for HAX1
    Novus Biologicals HAX1 Antibodies
    Abcam antibodies for HAX1
    Cloud-Clone Corp. Antibodies for HAX1
    ThermoFisher Antibody for HAX1
    LSBio Antibodies in human, mouse, rat for HAX1

    HAX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HAX1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HAX1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HAX1
    Cloud-Clone Corp. CLIAs for HAX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR017248 HS1--assoc_X-1

    Graphical View of Domain Structure for InterPro Entry O00165

    ProtoNet protein and cluster: O00165

    UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165
    Similarity: Belongs to the HAX1 family


    HAX1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HAX1_HUMAN, O00165
    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0019966interleukin-1 binding IDA11554782
    GO:0047485protein N-terminus binding IDA11554782
         
    HAX1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HAX1:
     Increased 8N DNA content 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hax1):
     behavior/neurological  cellular  growth/size/body  hematopoietic system  immune system 
     mortality/aging  nervous system  skeleton 

    HAX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HAX1: Hax1tm1.1Gach Hax1tm1Jni

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HAX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HAX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HAX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HAX1

    miRNA
    Products:
        
    miRTarBase miRNAs that target HAX1:
    hsa-mir-331-3p (MIRT043362), hsa-mir-155-5p (MIRT020740)

    Block miRNA regulation of human, mouse, rat HAX1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate HAX1
    SwitchGear 3'UTR luciferase reporter plasmidHAX1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HAX1
    Predesigned siRNA for gene silencing in human, mouse, rat HAX1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HAX1

    Clone
    Products:
         
    OriGene clones in human, mouse for HAX1 (see all 12)
    OriGene ORF clones in mouse, rat for HAX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HAX1 (NM_006118)
    Sino Biological Human cDNA Clone for HAX1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HAX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HAX1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HAX1
    Browse ESI BIO Cell Lines and PureStem Progenitors for HAX1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAX1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    HAX1_HUMAN, O00165: Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Cytoplasmic vesicle (By similarity).
    Sarcoplasmic reticulum (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion5
    nucleus5
    cytoskeleton3
    cytosol2
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope TAS9058808
    GO:0005667transcription factor complex IDA--
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA9058808
    GO:0005783endoplasmic reticulum ISS--

    HAX1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HAX1
    Interactions:

        GeneGlobe Interaction Network for HAX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HAX1 (O001651, 2, 3 ENSP000003290024) via UniProtKB, MINT, STRING, and/or I2D (see all 102)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF3FO003032, 3, ENSP000003100404MINT-67833 I2D: score=5 STRING: ENSP00000310040
    MAP3K3Q997592, 3MINT-48400 I2D: score=2 
    TNFRSF1AP194382, 3MINT-49306 I2D: score=2 
    TNFRSF1BP203332, 3MINT-49385 I2D: score=2 
    DGKDQ167602, 3, ENSP000002640574MINT-64293 I2D: score=5 STRING: ENSP00000264057
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0014068positive regulation of phosphatidylinositol 3-kinase signaling IMP--
    GO:0030833regulation of actin filament polymerization IMP--
    GO:0030854positive regulation of granulocyte differentiation IMP--
    GO:0033138positive regulation of peptidyl-serine phosphorylation IMP--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IMP--

    HAX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HAX1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for HAX1 gene (2 alternative transcripts): 
    NM_001018837.1  NM_006118.3  

    Unigene Cluster for HAX1:

    HCLS1 associated protein X-1
    Hs.199625  [show with all ESTs]
    Unigene Representative Sequence: BQ277134
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000328703(uc001fet.3 uc001fes.3 uc010peo.2) ENST00000457918
    ENST00000483970 ENST00000447768 ENST00000531435(uc009wou.3) ENST00000477780
    ENST00000435087 ENST00000532105 ENST00000471326 ENST00000492550 ENST00000459914


    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HAX1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate HAX1
    SwitchGear 3'UTR luciferase reporter plasmidHAX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HAX1
    Predesigned siRNA for gene silencing in human, mouse, rat HAX1
    Clone
    Products:
         
    OriGene clones in human, mouse for HAX1 (see all 12)
    OriGene ORF clones in mouse, rat for HAX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HAX1 (NM_006118)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HAX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HAX1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HAX1
    OriGene qSTAR qPCR primer pairs in human, mouse for HAX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HAX1
      QuantiTect SYBR Green Assays in human, mouse, rat HAX1
      QuantiFast Probe-based Assays in human, mouse, rat HAX1

    Additional mRNA sequence: 

    AK290626.1 AK294298.1 AK300676.1 AK310000.1 AK311450.1 AK313291.1 BC005240.1 BC014314.1 
    BC015209.1 BC016730.1 EU190983.1 U68566.1 

    Selected DOTS entries (see all 26):

    DT.447070  DT.91767916  DT.100884040  DT.100884039  DT.91767905  DT.92326930  DT.100884049  DT.100884038 
    DT.40132453  DT.75155390  DT.121340348  DT.121340416  DT.100884041  DT.100884043  DT.121340439  DT.91767903 
    DT.91918817  DT.95265201  DT.100038572  DT.100038575  DT.121290981  DT.121340429  DT.121340436  DT.91767902 

    Selected AceView cDNA sequences (see all 635):

    BU156808 AA806492 AI302718 F28640 BG109655 BQ653384 CD365690 CB992218 
    BM846115 H02987 AA079484 BM992385 W88514 BQ426151 CA411881 BE259993 
    BQ649819 BM726314 AA100469 BM503235 BG773966 BM510823 CA445218 CA443526 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for HAX1    About this scheme

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


    ECgene alternative splicing isoforms for HAX1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    HAX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGTTTGTC
    HAX1 Expression
    About this image

    HAX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HAX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.199625

    UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165
    Tissue specificity: Ubiquitous. Up-regulated in oral cancers

        Custom PCR Arrays for HAX1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HAX1
    OriGene qSTAR qPCR primer pairs in human, mouse for HAX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HAX1
    QuantiTect SYBR Green Assays in human, mouse, rat HAX1
    QuantiFast Probe-based Assays in human, mouse, rat HAX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAX1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for HAX1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hax11 , 5 HCLS1 associated X-11, 5 84.9(n)1
    81.88(a)1
      3 (39.19 cM)5
    238971  NM_011826.41  NP_035956.11 
     899954575 
    lizard
    (Anolis carolinensis)
    Reptilia HAX16
    HCLS1 associated protein X-1
    42(a)
    1 ↔ 1
    GL343805.1(129660-139977)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004859121 HCLS1-associated protein X-1-like 50.8(n)
    48.19(a)
      100485912  XM_002943110.2  XP_002943156.2 
    zebrafish
    (Danio rerio)
    Actinopterygii hax11 HCLS1 associated protein X-1 52.29(n)
    48.24(a)
      436609  NM_001002337.1  NP_001002337.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for HAX1 gene

    HAX1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HAX1
    PGOHUM00000241591


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for HAX1 (see all 174)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1419709141,2,,4
    CNeutropenia, severe congenital 3, autosomal recessive (SCN3)4 untested1160749727(+) ATGATA/GTATGG 4 I V mis10--------
    rs743153221,2
    Cpathogenic1160749933(+) ATTCCC/TAGGTT 4 Q * stg10--------
    rs584053801,2
    C--125608085(+) AAAAA-/A/AAA 
            
    GATAC
    2 -- us2k11NA 2
    rs22822271,2
    C,F,A--160745389(+) GGCGGA/C/GGAGGT 2 -- us2k111NA EA CSA 611
    rs10440131,2
    C,F,A,H--160745407(-) TATATA/GTTTGG 2 -- us2k125Minor allele frequency- G:0.47NS EA NA WA CSA 2511
    rs75540271,2
    C,A--160745538(+) TTTTTG/TTTTTT 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs3722084001,2
    C--160745538(+) TTTTT-/GTTTTT 2 -- us2k10--------
    rs2015744881,2
    C--160745555(-) CAGTAA/CAAAAA 2 -- us2k10--------
    rs1846003251,2
    --160745564(+) TGTGTC/TCTCAA 2 -- us2k10--------
    rs123542781,2
    C,F,H--160745749(+) ATGAAA/TTCTTC 2 -- us2k116Minor allele frequency- T:0.05EA NA NS 1294

    HapMap Linkage Disequilibrium report for HAX1 (154244987 - 154248351 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HAX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv521887CNV Gain19592680

    Human Gene Mutation Database (HGMD): HAX1
    Locus Specific Mutation Databases (LSDB): HAX1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HAX1
    DNA2.0 Custom Variant and Variant Library Synthesis for HAX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 605998   
    OMIM disorders: 610738  
    UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165
  • 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. 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)

  • Selected diseases for HAX1 (see all 27):    About MalaCards
    severe congenital neutropenia autosomal recessive 3    severe congenital neutropenia    idiopathic neutropenia    neutropenia
    polycystic kidney disease    kidney disease    neurologic diseases    oral cancer
    kaposi's sarcoma    myelodysplastic syndromes    psoriasis    hepatitis c virus
    hepatitis c    parkinson's disease    sarcoma    esophageal squamous cell carcinoma
    cystic fibrosis    influenza    cerebritis    esophagitis

    1 disease from the University of Copenhagen DISEASES database for HAX1:
    Neutropenia

    HAX1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): HAX1
    Human Genome Epidemiology (HuGE) Navigator: HAX1 (3 documents)

    Export disorders for HAX1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for HAX1 gene, integrated from 10 sources (see all 96):
    (articles sorted by number of sources associating them with HAX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. (PubMed id 10760273)1, 2, 3, 9 Gallagher A.R.... Witzgall R. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    2. HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases. (PubMed id 9058808)1, 2, 3 Suzuki Y....Watanabe T. (J. Immunol. 1997)
    3. The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival. (PubMed id 18971376)1, 2, 9 Vafiadaki E.... Kranias E.G. (Mol. Biol. Cell 2009)
    4. Existence of multiple isoforms of HS1-associated protein X-1 in murine and human tissues. (PubMed id 18472110)1, 2, 9 Lees D.M.... Marshall J.F. (J. Mol. Biol. 2008)
    5. Grb7 binds to Hax-1 and undergoes an intramolecular domain association that offers a model for Grb7 regulation. (PubMed id 20665473)1, 2 Siamakpour-Reihani S.... Lyons B.A. (J. Mol. Recognit. 2011)
    6. Digenic mutations in severe congenital neutropenia. (PubMed id 20220065)1, 2 Germeshausen M....Welte K. (Haematologica 2010)
    7. Molecular interaction between HAX-1 and XIAP inhibits apoptosis. (PubMed id 20171186)1, 2 Kang Y.J.... Park S.G. (Biochem. Biophys. Res. Commun. 2010)
    8. A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease). (PubMed id 19796188)1, 2 Faiyaz-Ul-Haque M.... Zaidi S.H. (Clin. Genet. 2009)
    9. Mutation analysis of the HAX1 gene in childhood myelodysplastic syndrome. (PubMed id 19298594)1, 4 Steinemann D....Schlegelberger B. (Br. J. Haematol. 2009)
    10. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. (PubMed id 18337561)1, 2 Germeshausen M.... Klein C. (Blood 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 10456 HGNC: 16915 AceView: HAX1 Ensembl:ENSG00000143575 euGenes: HUgn10456
    ECgene: HAX1 H-InvDB: HAX1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for HAX1 Pharmacogenomics, SNPs, Pathways
    HAX1basehttp://bioinf.uta.fi/HAX1base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for HAX1 gene:
    Search GeneIP for patents involving HAX1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     EMD Millipore Mono- and Polyclonal Antibodies for the study of HAX1
     Browse Small Molecules at EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Antibodies for HAX1 (HAX-1)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for HAX1   OriGene RNAi products in human, mouse, rat for HAX1  
     OriGene qPCR primer pairs and template standards for HAX1   OriGene Protein Over-expression Lysate for HAX1  
     OriGene MassSpec something-or-other for HAX1   OriGene clones in human, mouse for HAX1  
     OriGene qSTAR qPCR primer pairs in human, mouse for HAX1   OriGene Purified Protein for HAX1  
     OriGene ORF clones in mouse, rat for HAX1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HAX1   OriGene Custom Protein Services for HAX1  

     
     
     Block miRNA regulation of human, mouse, rat HAX1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing HAX1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HAX1 Predesigned siRNA for gene silencing in human, mouse, rat HAX1
     QuantiFast Probe-based Assays in human, mouse, rat HAX1 QuantiTect SYBR Green Assays in human, mouse, rat HAX1
     Custom PCR Arrays for HAX1 Search Chromatin IP Primers for HAX1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HAX1  GeneGlobe Interaction Network for HAX1
     Regulatory tfbs in HAX1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for HAX1 GenScript cDNA clones with any tag delivered in your preferred vector for HAX1
     GenScript Custom Assay Services for HAX1 GenScript Custom overexpressing Cell Line Services for HAX1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for HAX1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for HAX1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     HAX1 antibodies
     HAX1 proteins
     HAX1 lysates
     Antibodies for HAX1
     See all of Abcam's Antibodies, Kits and Proteins for HAX1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for HAX1
     Proteins for HAX1
     Antibodies for HAX1
     ELISAs for HAX1
     CLIAs for HAX1



     Browse ESI BIO Cell Lines and PureStem Progenitors for HAX1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAX1
     SwitchGear 3'UTR luciferase reporter plasmids for HAX1
     SwitchGear Promoter luciferase reporter plasmids for HAX1
     ThermoFisher Antibody for HAX1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HAX1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HAX1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HAX1
     LSBio Antibodies in human, mouse, rat for HAX1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HAX1 gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4