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HAX1 Gene

protein-coding   GIFtS: 62

GC01P152512
HCLS1 associated protein X-1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
FLJ17042 2
FLJ18492 2
FLJ93803 2
HAX-1 3
HCLSBP1 1, 2
HS1BP1 1, 2, 3
OTTHUMP00000034190 2
SCN3 2, 5
Descriptions
HCLS1 (and PKD2) associated protein 2
HCLS1 associated protein X-1 2
HS1 binding protein 2
HS1-associating protein X-1 3
HS1-binding protein 1 3
External Ids
HGNC: 169151
Entrez Gene: 104562
UniProtKB: O001653
Ensembl: ENSG000001435757
Search outside databases for aliases for HAX1 gene

Previous GC identifers: GC01P152062 GC01P149976 GC01P151020 GC01P151461 GC01P151058

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

EntrezGene summary for HAX1:
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]

UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165
Function: May function in promoting cell survival

Gene Wiki entry for HAX1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HAX1 gene  

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)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P152512:     (about GC identifiers)

Start:
152,511,663 bp from pter
End:
152,514,975 bp from pter
Size:
3,313 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_004487.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165 (See protein sequence)
Recommended Name: HCLS1-associated protein X-1  
Size: 279 amino acids; 31621 Da
Subunit: Directly associates with HCLS1/HS1, through binding to its N-terminal region. May also
associate with cortactin/EMS1 in non-lymphoid cells
Subcellular location: Mitochondrion. Endoplasmic reticulum. Nucleus membrane. Note=Predominantly
mitochondrial, but also to a lesser extent in endoplasmic reticulum and nuclear envelope
Secondary accessions: Q5VYD5 Q96AU4 Q9BS80

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000329002 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (HAX1)
    Human Recombinant Proteins from Abnova (HAX1)
                   OriGene Purified Recombinant Human Proteins (see all 2): HAX1  

    5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625 soluble fraction TAS9058808
    GO:0005634 nucleus IEA--
    GO:0005739 mitochondrion TAS9058808
    GO:0005783 endoplasmic reticulum TAS9058808
    GO:0015629 actin cytoskeleton NAS10760273
    About this table

    Antibodies for HAX1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for HAX1
    R&D Systems Antibodies for HAX1 (HAX-1)
    Antibodies from Abcam (HAX1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (HAX1)
    Novus Biologicals Antibodies for HAX1

    Assays for HAX1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR017248 HS1--assoc_X-1


       GeneDecks  HAX1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O00165

    ProtoNet protein and cluster: O00165

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (HAX1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (HAX1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_006118

                  Applied Biosystems Silencer® siRNAs for HAX1

                  Sigma-Aldrich siRNA for HAX1  
                         Sigma-Aldrich shRNA for HAX1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for HAX1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001018837
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001018837
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001018837 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_006118

    UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165
    Function: May function in promoting cell survival

    5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hax1):

    behavior/neurologicalhematopoietic systemimmune systemlife span-post-weaning/agingnervous system

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019966 interleukin-1 binding IDA11554782
    GO:0047485 protein N-terminus binding IDA11554782
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  HAX1 


    5/29 Interacting proteins for HAX1 (ENSP000003290023 O001651, 2) via UniProtKB, MINT, and/or STRING (see all 29 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    Abcb11 Abcb11 (xeno)O701271EBI-357001, EBI-930036
    Abcb1a Abcb1a (xeno)Q6PSM01EBI-357001, EBI-930055
    DGKDQ167602MINT-64293
    EIF3FO003032MINT-67833
    MAP3K3Q997592MINT-48400
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for HAX1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (HAX1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (HAX1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_006118

                  Sigma-Aldrich siRNA for HAX1  
                         Sigma-Aldrich shRNA for HAX1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001018837  NM_006118  

    REFSEQ mRNAs for HAX1 gene (2 alternative transcripts): 

    NM_001018837.1   NM_006118.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001018837  NM_006118  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001018837
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001018837
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001018837 

    Additional cDNA sequence: 

    AK290626.1 AK294298.1 AK300676.1 AK310000.1 AK311450.1 AK313291.1 BC005240.1 BC014314.1 
    BC015209.1 BC016730.1 CR593289.1 CR602994.1 CR603784.1 CR609915.1 CR611031.1 CR618741.1 
    EU190983.1 U68566.1 

    24/26 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 

    24/635 AceView cDNA sequences (see all 635 ):

    AA324379 H04282 CA411881 BM503235 BG773966 CR611031 BM464270 BM479677 
    BQ956280 AA713845 AA311082 BU157155 BQ649819 BQ653384 BC014314 BE259993 
    AA806492 BQ064645 H02987 CA445218 BG113606 CR602994 CA843162 CD365690 

    highest scoring ESTs for HAX1:

    AI970711 U68566 AA055812 AA057477 AA079484 AA079584 AA081634 AA081757 AA100469 AA101498 

    Unigene Cluster for HAX1:

    HCLS1 associated protein X-1
    Hs.199625  [show with all ESTs]
    Unigene Representative Sequence: BQ277134


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for HAX1

    1 Ensembl transcript including schematic representation:
    ENST00000328703  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    HAX1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for HAX1

    1 / 2 / 3

    4 probe-sets matching HAX1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    39800_s_at2, 3 U95-A 2 1.00 0.97 0.96 0.91 U68566 1.00 1.00 1.00 1

    75046_at2, 3 U95-D 2 1.00 0.88 0.97 1.09 AI970711 1.00 1.00 1.00 1

    201145_at2, 3 U133-A 2 1.00 0.91 -- -- NM_006118 0.60 1.00 0.82 1

    201145_at2 U133Plus2 2 1.00 0.91 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TCAGTTTGTC

    SOURCE GeneReport for Unigene cluster: Hs.199625

    Expression variation in blood from EXPOLDB for HAX1

    UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165
    Tissue specificity: Ubiquitous

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for HAX1 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    HAX11   -- HCLS1 associated protein X-1 89.17(n)
    84.12(a)
    480134  XM_537258.2  XP_537258.2 
    chimpanzee
    (Pan troglodytes)
    HAX11   -- HCLS1 associated protein X-1 99.64(n)
    99.64(a)
    457347  XM_001150932.1  XP_001150932.1 
    cow
    (Bos taurus)
    HAX11   -- HCLS1 associated protein X-1 89.45(n)
    86.69(a)
    506895  NM_001045953.1  NP_001039418.1 
    rat
    (Rattus norvegicus)
    Hs1bp11   -- HS1 binding protein 84.78(n)
    82.25(a)
    291202  NM_181627.2  NP_853658.1 
    mouse
    (Mus musculus)
    Hax11, 5 35
    HCLS1 associated X-11, 5 84.78(n)1
    82.25(a)1
    238971  NM_011826.21  NP_035956.11 
     AF0234825  AF0234835  (see all 16)
    About this table        Species with no ortholog for HAX1

    ENSEMBL Gene Tree for HAX1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Pseudogenes
    1 related pseudogene


    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/42 NCBI SNPs in HAX1 are shown (see all 42 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 33)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs11945941,2
    A,C,F,H,O152511478(+) GTCAAA/GCCCTC 2 -- ng517Minor allele frequency- G:0.08EU EA WA NA 558
    rs112654251,2
    A,C,F,H152511766(+) AGGTTT/GCCCCC 2 -- ut51 ese310Minor allele frequency- G:0.33MN EA EU WA 2090
    --
    rs64275331,2
    A,C152515459(+) aaaaaA/Gaaaag 2 -- ng310--------
    rs120477861,2
    F,H152515102(+) ATTTCA/CTAAGT 2 -- ng314Minor allele frequency- C:0.01EU EA WA 416
    rs11131421,2
    F,H152515130(+) AGAAAG/ATGATT 2 -- ng316Minor allele frequency- A:0.47NA PA EA WA 550
    rs18047151,2
    C,H152514793(+) TCCGGT/CCCCGG 2 P/S mis1 ese35Minor allele frequency- C:0.00MN EU EA WA 588
    --
    rs115563441,2
    H152512527(+) GGAACC/TCAAGG 2 P/S mis1 int1 ese34Minor allele frequency- T:0.00EU EA WA 404
    --
    rs137961,2
    C,F152512541(+) CATAGT/CCCTCA 2 S/S syn1 int1 ese32Minor allele frequency- C:0.04MN NA 260
    rs11945931,2
    A,C,F,H152512136(-) CTGTCC/TTATTC 2 -- int15Minor allele frequency- T:0.48MN EU EA WA 598
    rs66669431,2
    C,F,H152513878(+) TTTCTG/CGTAGA 2 -- int116Minor allele frequency- C:0.07EU EA WA NS NA 1086
    About this table

    HapMap Linkage Disequilibrium images for HAX1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 605998   disorders: 610738  

    UniProtKB/Swiss-Prot: HAX1_HUMAN, O00165

  • Defects in HAX1 are the cause of autosomal recessive severe congenital neutropenia 3
    (SCN3) [MIM:610738]; also called Kostmann disease. Autosomal recessive SCN constitutes a primary
    immunodeficiency syndrome associated with increased apoptosis in myeloid cells. Individuals show a
    paucity of mature neutrophils in peripheral blood and bone marrow and develop life-threatening
    bacterial infections
  • Human Gene Mutation Database: HAX1
    Human Genome Epidemiology Navigator: HAX1 (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/37 PubMed articles for HAX1 gene (see all 37 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 10456 HGNC: 16915 AceView: HAX1 Ensembl:ENSG00000143575 euGenes: HUgn10456
    ECgene: HAX1 H-InvDB: HAX1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    HAX1basehttp://bioinf.uta.fi/HAX1base/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for HAX1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for HAX1 Antibodies for HAX1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for HAX1 Browse small molecules at Sigma-Aldrich
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     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for HAX1




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for HAX1

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