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HAP1 Gene

protein-coding   GIFtS: 57
GCID: GC17M039873

Huntingtin-Associated Protein 1


(Previous symbol: HAP2)
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)
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Aliases
Huntingtin-Associated Protein 11 2     HIP52
HAP21 2 3 5     hHLP12
Neuroan 11 2 3     Huntingtin-Associated Protein 22
HAP-12 3     HLP13
HLP2 5     

External Ids:    HGNC: 48121   Entrez Gene: 90012   Ensembl: ENSG000001738057   OMIM: 6009475   UniProtKB: P542573   

Export aliases for HAP1 gene to outside databases

Previous GC identifers: GC17M039433 GC17M041928 GC17M039782 GC17M040253 GC17M040254 GC17M037133 GC17M035641


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HAP1 Gene:
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, Jul 2008)

GeneCards Summary for HAP1 Gene:
HAP1 (huntingtin-associated protein 1) is a protein-coding gene. Diseases associated with HAP1 include huntington's disease, and male infertility. An important paralog of this gene is TRAK1.

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 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)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the HAP1 gene promoter:
         SRF   TBP   SRF (504 AA)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHAP1 promoter sequence
   Search Chromatin IP Primers for HAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HAP1


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

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)
HAP1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039873:  view genomic region     (about GC identifiers)

Start:
39,873,994 bp from pter      End:
39,890,898 bp from pter
Size:
16,905 bases      Orientation:
minus strand

1 alternative location:
Chr17-,NW_003571052 9,281-21,288     

(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.)
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UniProtKB/Swiss-Prot: HAP1_HUMAN, P54257 (See protein sequence)
Recommended Name: Huntingtin-associated protein 1  
Size: 671 amino acids; 75506 Da
Secondary accessions: A8MQB5 O75358 Q59GK4 Q9H4G3 Q9HA98 Q9NY90
Alternative splicing: 4 isoforms:  P54257-1   P54257-2   P54257-3   P54257-4   

Explore the universe of human proteins at neXtProt for HAP1: NX_P54257

Explore proteomics data for HAP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000404640   ENSP00000388981   ENSP00000397242   ENSP00000377513   ENSP00000334002  
     ENSP00000343170   ENSP00000309392  

    HAP1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for HAP1
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    Novus Biologicals HAP1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HAP1

    HAP1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HAP1
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    Abcam antibodies for HAP1
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    ThermoFisher Antibody for HAP1
    LSBio Antibodies in human, mouse, rat for HAP1

    HAP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HAP1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HAP1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HAP1
    Cloud-Clone Corp. CLIAs for HAP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR006933 HAP1_N

    Graphical View of Domain Structure for InterPro Entry P54257

    ProtoNet protein and cluster: P54257

    1 Blocks protein domain: IPB006933 HAP1

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


    HAP1 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    HAP1 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Hap1):
     behavior/neurological  embryogenesis  growth/size/body  homeostasis/metabolism  integument 
     mortality/aging  nervous system 

    HAP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HAP1: Hap1tm1Hay Hap1tm2Id Hap1tm1Xjl Hap1tm1Id

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HAP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HAP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HAP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HAP1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat HAP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HAP1 (see all 27):
    hsa-miR-328 hsa-miR-4318 hsa-miR-548s hsa-miR-507 hsa-miR-1205 hsa-miR-339-5p hsa-miR-766 hsa-miR-3142
    SwitchGear 3'UTR luciferase reporter plasmidHAP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HAP1
    Predesigned siRNA for gene silencing in human, mouse, rat HAP1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HAP1

    Clone
    Products:
         
    OriGene clones in human, mouse for HAP1 (see all 15)
    OriGene ORF clones in mouse, rat for HAP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for HAP1
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HAP1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HAP1
    Browse ESI BIO Cell Lines and PureStem Progenitors for HAP1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol3
    mitochondrion3
    peroxisome2
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton TAS9361024
    GO:0015629actin cytoskeleton TAS9361024
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--

    HAP1 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).
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    SuperPaths for HAP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Circadian entrainment
    GABAergic synapse0.53
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.45
    3fMLP Pathway
    Huntington's Disease Pathway0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for HAP1
        Huntington's Disease Pathway


    2 Kegg Pathways  (Kegg details for HAP1):
        GABAergic synapse
    Huntington's disease


    HAP1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including HAP1: 
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HAP1

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

    Selected Interacting proteins for HAP1 (P542572, 3 ENSP000003340024) via UniProtKB, MINT, STRING, and/or I2D (see all 94)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C8orf33Q9H7E92, 3MINT-65507 MINT-8250429 I2D: score=4 
    HMOX2P305192, 3MINT-8258288 MINT-63645 I2D: score=4 
    TBPP202262, 3, ENSP000002303544MINT-2865718 I2D: score=2 STRING: ENSP00000230354
    KIAA1377Q9P2H02, 3, ENSP000002634684MINT-3981067 I2D: score=1 STRING: ENSP00000263468
    ATP5J2P561342, 3MINT-63894 I2D: score=4 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission TAS9361024
    GO:0007420brain development NAS7477378
    GO:0008104protein localization IMP18922795
    GO:0047496vesicle transport along microtubule IEA--

    HAP1 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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HAP1

    1 Novoseek inferred chemical compound relationship for HAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 67.4 7 16782802 (1), 9668110 (1), 9454836 (1), 19262167 (1) (see all 5)



    HAP1 for compounds           About GeneDecksing



    (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 )
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    REFSEQ mRNAs for HAP1 gene (4 alternative transcripts): 
    NM_001079870.1  NM_001079871.1  NM_177977.2  NM_003949.3  

    Unigene Cluster for HAP1:

    Huntingtin-associated protein 1
    Hs.158300  [show with all ESTs]
    Unigene Representative Sequence: AB209105
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000458656 ENST00000442364 ENST00000455021 ENST00000393939(uc002hxp.1)
    ENST00000347901(uc002hxn.1) ENST00000341193(uc002hxo.1) ENST00000310778(uc002hxm.1)


    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HAP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HAP1 (see all 27):
    hsa-miR-328 hsa-miR-4318 hsa-miR-548s hsa-miR-507 hsa-miR-1205 hsa-miR-339-5p hsa-miR-766 hsa-miR-3142
    SwitchGear 3'UTR luciferase reporter plasmidHAP1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HAP1
    Predesigned siRNA for gene silencing in human, mouse, rat HAP1
    Clone
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    OriGene clones in human, mouse for HAP1 (see all 15)
    OriGene ORF clones in mouse, rat for HAP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for HAP1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HAP1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HAP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HAP1
      QuantiTect SYBR Green Assays in human, mouse, rat HAP1
      QuantiFast Probe-based Assays in human, mouse, rat HAP1

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 35):

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

    GeneLoc Exon Structure


    (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)
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    HAP1 expression in normal human tissues (normalized intensities)      HAP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCAGCCCC
    HAP1 Expression
    About this image


    HAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Lung (Respiratory System)
             Stem Bronchi
    HAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.158300

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

        Pathway & Disease-focused RT2 Profiler PCR Array including HAP1: 
              Huntington's Disease in human mouse rat

    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAP1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for HAP1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hap11 , 5 huntingtin-associated protein 11, 5 74.89(n)1
    68.74(a)1
      11 (63.47 cM)5
    151141  NM_010404.31  NP_034534.11 
     1003473275 
    chicken
    (Gallus gallus)
    Aves HAP16
    huntingtin-associated protein 1
    16(a)
    1 ↔ 1
    27(4647054-4655682)
    lizard
    (Anolis carolinensis)
    Reptilia HAP16
    huntingtin-associated protein 1
    21(a)
    1 ↔ 1
    6(71292275-71314649)
    zebrafish
    (Danio rerio)
    Actinopterygii HAP16
    huntingtin-associated protein 1
    18(a)
    1 ↔ 1
    11(11718450-11746419) ENSDARG00000074508
    fruit fly
    (Drosophila melanogaster)
    Insecta milt6
    milton
    7(a)
    1 → many
    2L(7037823-7056010)
    worm
    (Caenorhabditis elegans)
    Secernentea T27A3.16
    Protein T27A3.1, isoform e (T27A3.1) mRNA, complet...
    9(a)
    1 → many
    I(6122590-6126854) WBGene00020838


    ENSEMBL Gene Tree for HAP1 (if available)
    TreeFam Gene Tree for HAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HAP1 gene
    TRAK12  TRAK22  

    HAP1 for paralogs           About GeneDecksing



    (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)
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    Selected SNPs for HAP1 (see all 561)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1927234841,2
    --39878417(+) GAGCCA/TCTGCA 3 -- ds50010--------
    rs1476947591,2
    C--39878437(+) CCCCAA/GATATT 3 -- ds50010--------
    rs1141092001,2
    C,F--39878472(+) ACGGAT/AGCAGA 3 -- ds50011Minor allele frequency- A:0.20WA 118
    rs1837564341,2
    --39878478(+) GCAGAA/GCCTGA 3 -- ds50010--------
    rs772895631,2
    F--39878777(+) ACGGCG/ATATTT 3 -- ds50011Minor allele frequency- A:0.01WA 118
    rs1866366151,2
    --39878792(+) GGAGTA/CCTCGG 3 -- ds50010--------
    rs1490750901,2
    --39878793(+) GAGTCC/GTCGGC 3 -- ds50010--------
    rs1504142661,2
    C--39878819(+) ATCCA-/CCCCTT 3 -- ds50010--------
    rs1171756601,2
    C,F--39878840(+) ACTTCG/ACCCTG 3 -- ds50011Minor allele frequency- A:0.03NA 120
    rs1383204831,2
    C--39878852(+) AAGTG-/CACACAC 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for HAP1 (39873994 - 39890898 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HAP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1060250CNV Insertion17803354
    dgv962e1CNV Complex17122850
    dgv961e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): HAP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for HAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600947    OMIM disorders: --

    13 diseases for HAP1:    About MalaCards
    huntington's disease    male infertility    intrahepatic cholangiocarcinoma    dementia
    cholangiocarcinoma    infertility    neuronitis    coronary artery disease
    esophageal squamous cell carcinoma    ataxia    esophagitis    squamous cell carcinoma
    cerebritis

    1 disease from the University of Copenhagen DISEASES database for HAP1:
    Huntington's disease

    HAP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for HAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    huntington disease 85.7 7 16782802 (1), 9798945 (1), 8643490 (1), 9742138 (1) (see all 7)
    parkinsonism 30.8 2 10974549 (1), 9657855 (1)
    neurodegeneration 22.1 1 16782802 (1)
    dementia 4.65 1 9657855 (1)

    Genetic Association Database (GAD): HAP1
    Human Genome Epidemiology (HuGE) Navigator: HAP1 (144 documents)

    Export disorders for HAP1 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)
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    PubMed articles for HAP1 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with HAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human HAP1 homologue. Cloning, expression, and interaction with huntingtin. (PubMed id 9668110)1, 2, 3, 9 Li S.-H....Li X.-J. (J. Biol. Chem. 1998)
    2. Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. (PubMed id 18192679)1, 2, 4, 9 Metzger S.... Riess O. (Hum. Mol. Genet. 2008)
    3. A huntingtin-associated protein enriched in brain with implications for pathology. (PubMed id 7477378)1, 2, 3, 9 Li X.-J.... Ross C.A. (Nature 1995)
    4. Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism. (PubMed id 10974549)1, 2, 9 Nasir J.... Hayden M.R. (Gene 2000)
    5. Age at onset in Huntington's disease: replication study on the associations of ADORA2A, HAP1 and OGG1. (PubMed id 20512606)1, 4 Taherzadeh-Fard E....Arning L. (Neurogenetics 2010)
    6. A polymorphism in the protease-like domain of apolipoprotein(a) is associated with severe coronary artery disease. (PubMed id 17569884)1, 4 Luke M.M....Ellis S.G. (Arterioscler. Thromb. Vasc. Biol. 2007)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human. (PubMed id 9742138)1, 9 Gutekunst C.A....Hersch S.M. (J. Neurosci. 1998)
    9. Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin. (PubMed id 9361024)1, 9 Engelender S.... Ross C.A. (Hum. Mol. Genet. 1997)
    10. Huntingtin associated protein 1 and its functions. (PubMed id 19262167)1, 9 Wu L.L. and Zhou X.F. (amp 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9001 HGNC: 4812 AceView: HAP1 Ensembl:ENSG00000173805 euGenes: HUgn9001
    ECgene: HAP1 Kegg: 9001 H-InvDB: HAP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HAP1 gene:
    Search GeneIP for patents involving HAP1

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



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