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HAP1 Gene

protein-coding   GIFtS: 59

GC17M037133
huntingtin-associated protein 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: HAP2)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
HAP-1 3
HAP2 2, 3, 5
HIP5 1, 2
HLP 1, 2, 5
HLP1 3
OTTHUMP00000164747 2
hHLP1 1, 2
Descriptions
Neuroan 1 2, 3
huntingtin-associated protein 1 2
huntingtin-associated protein 2 2
External Ids
HGNC: 48121
Entrez Gene: 90012
UniProtKB: P542573
Ensembl: ENSG000001738057
Search outside databases for aliases for HAP1 gene

Previous GC identifers: GC17M039433 GC17M041928 GC17M039782 GC17M040253 GC17M040254

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

EntrezGene summary for HAP1:
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal
neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This
gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin
and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine
kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a
role for this protein in vesicular trafficking or organelle transport. Several alternatively
spliced transcript variants encoding different isoforms have been described for this gene.
[provided by RefSeq]

UniProtKB/Swiss-Prot: HAP1_HUMAN, P54257
Function: Associates specifically with huntingtin. This binding is enhanced by an expanded
polyglutamine repeat

(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 HAP1 gene  

Entrez Gene cytogenetic band: 17q21.2-q21.3   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21.2-q21.3

HAP1 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 17         GeneLoc Exon Structure

GeneLoc location for GC17M037133:     (about GC identifiers)

Start:
37,130,591 bp from pter
End:
37,144,424 bp from pter
Size:
13,834 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000017.9  NT_010755.15  
(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)
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UniProtKB/Swiss-Prot: HAP1_HUMAN, P54257 (See protein sequence)
Recommended Name: Huntingtin-associated protein 1  
Size: 671 amino acids; 75514 Da
Secondary accessions: O75358 Q9H4G3 Q9HA98 Q9NY90
Alternative splicing: 3 isoforms:  P54257-1   P54257-2   P54257-3   (Additional isoforms seem to exist)

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (4 alternative transcripts): 
    NP_001073339.1  NP_001073340.1  NP_003940.3  NP_817084.2  


    ENSEMBL proteins: 
    ENSP00000377513 ENSP00000343170 ENSP00000334002 ENSP00000309392 


    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 (Huntingtin Associated Protein 1)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015629 actin cytoskeleton TAS9361024
    About this table

    Antibodies for HAP1: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of HAP1
    Sigma-Aldrich Antibodies for HAP1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Huntingtin Associated Protein 1), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for HAP1

    Assays for HAP1: 
    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:
     IPR006933 HAP1_N


       GeneDecks  HAP1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P54257

    ProtoNet protein and cluster: P54257

    1 Blocks protein family: IPB006933 HAP1

    UniProtKB/Swiss-Prot: HAP1_HUMAN, P54257
    Similarity: Contains 1 HAP1 N-terminal domain

    (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 (HAP1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_177977

                  Applied Biosystems Silencer® siRNAs for HAP1

                  Sigma-Aldrich siRNA for HAP1  
                         Sigma-Aldrich shRNA for HAP1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001079870
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001079870
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_001079870 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_177977

    UniProtKB/Swiss-Prot: HAP1_HUMAN, P54257
    Function: Associates specifically with huntingtin. This binding is enhanced by an expanded
    polyglutamine repeat

    Genatlas biochemistry entry for HAP1:
    Huntingtin associated protein 1,with increased affinity for mutant huntingtin,predominantly
    expressed in the brain,present during early embryogenesis and likely to play a role in neural
    development

    5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Hap1):

    behavior/neurologicalembryogenesisgrowth/sizelethality-postnatalnervous system

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674 molecular_function ND--
    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


    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  HAP1  (Your Favorite Gene powered by Ingenuity) 
     Huntington's Disease Signaling

       GeneDecks  HAP1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for HAP1):
     hsa05016 Huntington's disease

       GeneDecks  HAP1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  HAP1 


    5/46 Interacting proteins for HAP1 (P542572 ENSP000003093923) via UniProtKB, MINT, and/or STRING (see all 46 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HTTP428582MINT-3978412 MINT-3978537
    ZNF33BQ067322MINT-64056 MINT-3979808
    ATP5J2P561342MINT-63894
    BARD1Q997282MINT-3978807
    C15orf29Q9H0792MINT-65437
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268 synaptic transmission TAS9361024
    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 HAP1

    (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 (HAP1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_177977

                  Sigma-Aldrich siRNA for HAP1  
                         Sigma-Aldrich shRNA for HAP1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001079870  NM_001079871  NM_177977  

    REFSEQ mRNAs for HAP1 gene (4 alternative transcripts): 

    NM_001079870.1   NM_001079871.1   NM_003949.3   NM_177977.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001079870  NM_001079871  NM_177977  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001079870
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001079870
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_001079870 

    Additional cDNA sequence: 

    AB209105.1 AF040723.1 AK022007.1 U38371.1 

    7 DOTS entries:

    DT.100756574  DT.97764030  DT.65288727  DT.120993447  DT.99938455  DT.95337293  DT.97813317 

    24/35 AceView cDNA sequences (see all 35 ):

    CB128405 BM681167 U38371 BE671903 AK022007 CB154572 AI564953 BX117395 
    BF528235 AW189551 BP348679 AW451307 BX489302 AW450174 NM_177977 BM314041 
    AF040723 NM_003949 BE002952 AU146510 AU120444 AI809524 BG913560 BM313766 

    highest scoring ESTs for HAP1:

    AF040723 AU100215 AU120444 BX489302 CB154572 AK022007 AI564953 AU146510 AW189551 AW450174 

    Unigene Cluster for HAP1:

    Huntingtin-associated protein 1
    Hs.158300  [show with all ESTs]
    Unigene Representative Sequence: AB209105


    GeneLoc Exon Structure

    4 Ensembl transcripts including schematic representations:
    ENST00000393939  ENST00000341193  ENST00000347901  ENST00000310778  
    (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

    HAP1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for HAP1

    1 / 2 / 3

    6 probe-sets matching HAP1 gene


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

    31391_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF040723 1.00 0.90 0.95 1

    211222_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF040723 1.00 0.90 0.95 1

    211604_x_at2, 3 U133-A 1 1.00 1.00 -- -- U38371 0.60 0.75 0.68 1

    211222_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    211604_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1567167_at*2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GCCCAGCCCC

    SOURCE GeneReport for Unigene cluster: Hs.158300

    Expression variation in blood from EXPOLDB for HAP1

    UniProtKB/Swiss-Prot: HAP1_HUMAN, P54257
    Tissue specificity: Predominantly expressed in brain. Selectively expressed in neurons

    (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 HAP1 gene from 4 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    HAP11   -- huntingtin-associated protein 1 78.46(n)
    68.31(a)
    607751  XM_844535.1  XP_849628.1 
    chimpanzee
    (Pan troglodytes)
    HAP11   -- huntingtin-associated protein 1 98.8(n)
    97.9(a)
    743382  XM_001167883.1  XP_001167883.1 
    rat
    (Rattus norvegicus)
    Hap11   -- huntingtin-associated protein 1 75.58(n)
    67.83(a)
    29430  NM_177982.1  NP_817091.1 
    mouse
    (Mus musculus)
    Hap11, 5 11 (60.00 cM)5
    huntingtin-associated protein 11, 5 74.22(n)1
    68.14(a)1
    151141  NM_010404.21  NP_034534.11 
     AA0309515  AJ0002625  (see all 13)
    About this table        Species with no ortholog for HAP1

    ENSEMBL Gene Tree for HAP1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for HAP1 gene
    TRAK12  TRAK22  

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


    10/171 NCBI SNPs in HAP1 are shown (see all 171 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 52)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs80750171,2
    A,C,F,H37134815(+) GGCACC/GAACTC 3 F/L mis1 ese38Minor allele frequency- G:0.05NA EU EA WA 696
    rs47966031,2
    A,C,F,H37144241(+) CTGGGT/ATCCAG 3 T/S mis1 ese35Minor allele frequency- A:0.10EU EA WA 470
    rs47966041,2
    A,C,F,H37144402(+) ACCTCT/CTCGGG 3 R/K mis1 ese36Minor allele frequency- C:0.49NA EU EA WA 550
    rs72133371,2
    A,C,F,H37132954(+) GCCAGC/TGGGCC 3 -- ut31 ese37Minor allele frequency- T:0.12NA EU EA WA 546
    rs47966931,2
    A,C,F,H37138109(+) CCTCCA/GCTGGG 3 S/L mis1 ese35Minor allele frequency- G:0.20EU EA WA 478
    --
    rs47966051,2
    A,C,F,H37145382(+) atgcaT/Ctccag 3 -- ng314Minor allele frequency- C:0.22EU EA WA 418
    rs45239771,2
    C,F,H37136876(+) GAGACG/ATTCTG 3 M/T mis1 ese310Minor allele frequency- A:0.19EU EA WA NA 952
    --
    rs129518471,2
    A,C37132640(+) GGCCAC/TGGATG 3 -- ut31 ese30--------
    rs340443301,2
    C,F37134529(+) GGCCCC/TGTGGG 3 G/R mis11Minor allele frequency- T:0.03NA 72
    rs348530431,2
    C,F37134825(+) CCTCCG/ACAGGC 3 V/A mis12Minor allele frequency- A:0.04NA EU 140
    About this table

    HapMap Linkage Disequilibrium images for HAP1 (up to first 250kb)

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

    OMIM: 600947

    4 Novoseek disease relationships for HAP1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    huntington disease 85.86 7 16782802 (1), 9798945 (1), 8643490 (1), 9742138 (1) (see all 7)
    parkinsonism 32.30 2 10974549 (1), 9657855 (1)
    neurodegeneration 24.51 1 16782802 (1)
    dementia 6.59 1 9657855 (1)
    About this table

    1 PharmGKB disease relationship for HAP1 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12730115
    About this table

    Human Genome Epidemiology Navigator: HAP1 (92 documents)

    (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

    10/43 PubMed articles for HAP1 gene (see all 43 ):
    (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: 9001 HGNC: 4812 AceView: HAP1 Ensembl:ENSG00000173805 euGenes: HUgn9001
    ECgene: HAP1 H-InvDB: HAP1
    (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

      --
    (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 HAP1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for HAP1-related products

     Millipore Custom Antibody & Bulk Services
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     Millipore Immunoassay Services
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     Predesigned and custom siRNAs for HAP1 Antibodies for HAP1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for HAP1 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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