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    HAP1 huntingtin-associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 9001, updated on 18-May-2013
    Official Symbol
    HAP1provided by HGNC
    Official Full Name
    huntingtin-associated protein 1provided by HGNC
    Primary source
    HGNC:4812
    See related
    Ensembl:ENSG00000173805; HPRD:02972; MIM:600947; Vega:OTTHUMG00000133498
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HLP; HAP2; HIP5; hHLP1
    Summary
    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]
    Location :
    17q21.2-q21.3
    Sequence :
    Chromosome: 17; NC_000017.10 (39878891..39890898, complement)
    See HAP1 in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 1 Neighboring gene gastrin Neighboring gene junction plakoglobin Neighboring gene leprecan-like 4

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description
    NP_817084.1 NP_002102.2 HTT    BIND  PubMed Huntingtin interacts with HAP1. 
    P54257 P56134 ATP5J2    HPRD  PubMed  
    P54257 Q99728 BARD1    HPRD  PubMed  
    P54257 Bromodomain containing 7 BRD7    HPRD  PubMed  
    P54257 Q9H7E9 C8orf33    HPRD  PubMed  
    P54257 Q9HC52 CBX8    HPRD  PubMed  
    P54257 Q9H0I3 CCDC113    HPRD  PubMed  
    P54257 Q96SN8 CDK5RAP2    HPRD  PubMed  
    P54257 Q14055 COL9A2    HPRD  PubMed  
    P54257 P50238 CRIP1    HPRD  PubMed  
    P54257 Q14203 DCTN1    HPRD  PubMed  
    P54257 Q9Y6V7 DDX49    HPRD  PubMed  
    P54257 P60022 DEFB1    HPRD  PubMed  
    P54257 P60228 EIF3E    HPRD  PubMed  
    P54257 Q9BQD7 FAM173A    HPRD  PubMed  
    P54257 O95257 GADD45G    HPRD  PubMed  
    P54257 Q9Y2X7 GIT1    HPRD  PubMed  
    P54257 Q9NZM5 GLTSCR2    HPRD  PubMed  
    P54257 P54257 HAP1    HPRD  PubMed  
    P54257 O14964 HGS    HPRD  PubMed  
    P54257 P30519 HMOX2    HPRD  PubMed  
    P54257 P42858 HTT    HPRD  PubMed  
    P54257 Q16891 IMMT    HPRD  PubMed  
    P54257 Q8WYH8 ING5    HPRD  PubMed  
    P54257 Q92993 KAT5    HPRD  PubMed  
    P54257 Q9H079 KATNBL1    HPRD  PubMed  
    P54257 P52292 KPNA2    HPRD  PubMed  
    P54257 Q13368 MPP3    HPRD  PubMed  
    P54257 P82933 MRPS9    HPRD  PubMed  
    P54257 Nucleosome assembly protein 1-like 5 NAP1L5    HPRD  PubMed  
    P54257 Q9Y6M9 NDUFB9    HPRD  PubMed  
    P54257 Q13562 NEUROD1    HPRD  PubMed  
    P54257 Q9UFN0 NIPSNAP3A    HPRD  PubMed  
    P54257 Q13310 PABPC4    HPRD  PubMed  
    P54257 Q15154 PCM1    HPRD  PubMed  
    P54257 Q8N8D1 PDCD7    HPRD  PubMed  
    P54257 O60925 PFDN1    HPRD  PubMed  
    P54257 Q08752 PPID    HPRD  PubMed  
    P54257 P50336 PPOX    HPRD  PubMed  
    P54257 O00231 PSMD11    HPRD  PubMed  
    P54257 O15258 RER1    HPRD  PubMed  
    P54257 Q5UIP0 RIF1    HPRD  PubMed  
    P54257 P46783 RPS10    HPRD  PubMed  
    P54257 P62851 RPS25    HPRD  PubMed  
    P54257 O95295 SNAPIN    HPRD  PubMed  
    P54257 Q08170 SRSF4    HPRD  PubMed  
    P54257 Q13190 STX5    HPRD  PubMed  
    P54257 Q9H5J8 TAF1D    HPRD  PubMed  
    P54257 P20226 TBP    HPRD  PubMed  
    P54257 Q99595 TIMM17A    HPRD  PubMed  
    P54257 P45378 TNNT3    HPRD  PubMed  
    P54257 Q15388 TOMM20    HPRD  PubMed  
    P54257 Q9H0U9 TSPYL1    HPRD  PubMed  
    P54257 Q9NQZ2 UTP3    HPRD  PubMed  
    P54257 P08670 VIM    HPRD  PubMed  
    P54257 P17024 ZNF20    HPRD  PubMed  
    P54257 P17028 ZNF24    HPRD  PubMed  
    P54257 Q06732 ZNF33B    HPRD  PubMed  
    P54257 Q5VV52 ZNF691    HPRD  PubMed  
    BioGRID:114480 BioGRID:106830 APLP1    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:114923 ATP5J2    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:110433 ATXN3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114480 BioGRID:107056 BARD1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:114480 BioGRID:118883 BRD7    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:122489 C7orf25    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:122420 C8orf33    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:121487 CBX8    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:118843 CCDC113    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:122724 CDC73    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:120873 CDK5RAP2    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:107695 COL9A2    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:107786 CRIP1    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:108007 DCTN1    BioGRID  PubMed Affinity Capture-Western; Co-fractionation; Reconstituted Complex; Two-hybrid 
    BioGRID:114480 BioGRID:120040 DDX49    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:109857 EIF3E    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:122439 FAM173A    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:114997 FEZ1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:114480 BioGRID:116117 GADD45G    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:114480 BioGRID:118789 GIT1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:114480 BioGRID:119021 GLTSCR2    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:125399 GPRASP2    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:114480 HAP1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:114480 BioGRID:114593 HGS    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:114480 BioGRID:109406 HMOX2    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:109540 HSPA4    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    NP_002102.2 HTT    BIND  PubMed Htt interacts with Hap1. 
    NP_002102.2 HTT    BIND  PubMed Htt interacts with HAP1. This interaction was modeled on a demonstrated interaction between human Htt and Rat HAP1. 
    BioGRID:114480 BioGRID:109314 HTT    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:114480 BioGRID:116185 IMMT    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:124016 ING5    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:115779 KAT5    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:114480 BioGRID:116315 KAT7    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:114480 BioGRID:122873 KATNBL1    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:123873 KBTBD7    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:110036 KPNA2    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:120905 LRIF1    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:119646 LUC7L2    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:110496 MPP3    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:122360 MRPS9    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:129344 NAP1L5    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:110795 NDUFB9    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:110833 NEUROD1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:114480 BioGRID:117432 NIPSNAP3A    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:111139 PCM1    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:115390 PDCD7    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:111223 PFDN1    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:111477 PPID    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:111492 PPOX    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:111689 PSMD11    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:116262 RER1    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:112118 RPS10    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:112144 RPS25    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:117101 SNAPIN    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:112327 SRSF4    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:112680 STX5    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:122548 TAF1D    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:112771 TBP    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:112992 TNNT1    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:112994 TNNT3    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:115144 TOMM20    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:113110 TSPYL1    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:121342 UTP3    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:113272 VIM    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:113399 ZNF20    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:113403 ZNF24    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:113411 ZNF33B    BioGRID  PubMed Two-hybrid 
    BioGRID:114480 BioGRID:119250 ZNF691    BioGRID  PubMed Two-hybrid 
    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
     
    Process Evidence Code Pubs
    brain development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    vesicle transport along microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasmic membrane-bounded vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    huntingtin-associated protein 1
    Names
    huntingtin-associated protein 1
    HAP-1
    neuroan 1
    huntingtin-associated protein 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001079870.1NP_001073339.1  huntingtin-associated protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site the 5' coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 2. The encoded isoform (3) is shorter than isoform 2.
      Source sequence(s)
      AC109319, AF040723, AK022007, CB128405, DA203084, DA231862
      Consensus CDS
      CCDS42338.1
      UniProtKB/Swiss-Prot
      P54257
      Related
      ENSP00000343170, OTTHUMP00000164747, ENST00000341193, OTTHUMT00000257419
      Conserved Domains (1) summary
      pfam04849
      Location:106408
      Blast Score: 669
      HAP1_N; HAP1 N-terminal conserved region
    2. NM_001079871.1NP_001073340.1  huntingtin-associated protein 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region, compared to variant 2, and encodes an isoform (4) that is shorter than isoform 2.
      Source sequence(s)
      AC109319, AF040723, AK022007, CB128405, DA203084, DA231862
      Consensus CDS
      CCDS42339.1
      UniProtKB/Swiss-Prot
      P54257
      Conserved Domains (1) summary
      pfam04849
      Location:128400
      Blast Score: 673
      HAP1_N; HAP1 N-terminal conserved region
    3. NM_177977.2NP_817084.2  huntingtin-associated protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AC109319, AF040723, AK022007, CB128405, DA203084, DA231862
      Consensus CDS
      CCDS11406.1
      UniProtKB/Swiss-Prot
      P54257
      Related
      ENSP00000334002, OTTHUMP00000164746, ENST00000347901, OTTHUMT00000257418
      Conserved Domains (1) summary
      pfam04849
      Location:128425
      Blast Score: 739
      HAP1_N; HAP1 N-terminal conserved region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 PATCHES

    Genomic

    1. NW_003571052.1 Reference GRCh37.p10 PATCHES

      Range
      9281..21288, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p10 Primary Assembly

      Range
      39878891..39890898, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      35641052..35653084, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018928.1 Alternate CHM1_1.0

      Range
      40667634..40679719, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_003949.3: Suppressed sequence

      Description
      NM_003949.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

      Supplemental Content

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