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

    Gene ID: 9001, updated on 17-Jun-2019

    Summary

    Official Symbol
    HAP1provided by HGNC
    Official Full Name
    huntingtin associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:4812
    See related
    Ensembl:ENSG00000173805 MIM:600947
    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]
    Expression
    Biased expression in stomach (RPKM 6.7), brain (RPKM 3.4) and 9 other tissues See more
    Orthologs

    Genomic context

    See HAP1 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (41717739..41734646, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39878891..39890898, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 1 Neighboring gene RNA, 5S ribosomal pseudogene 442 Neighboring gene gastrin Neighboring gene RNA, 7SL, cytoplasmic 399, pseudogene Neighboring gene junction plakoglobin Neighboring gene prolyl 3-hydroxylase family member 4 (non-enzymatic) Neighboring gene FKBP prolyl isomerase 10

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of huntingtin-associated protein 1 (HAP1) by siRNA inhibits HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    brain-derived neurotrophic factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ion channel binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    myosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    anterograde axonal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anterograde axonal transport of mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    brain development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    cerebellum development IEA
    Inferred from Electronic Annotation
    more info
     
    chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    hypothalamus cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion distribution IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of amyloid-beta formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neurotrophin TRK receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neurotrophin TRK receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of epidermal growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neurotrophin production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of non-motile cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of synaptic transmission, GABAergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein targeting IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of organelle transport along microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retrograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vesicle transport along microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    autophagosome IEA
    Inferred from Electronic Annotation
    more info
     
    axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    centriole IEA
    Inferred from Electronic Annotation
    more info
     
    centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    inclusion body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    huntingtin-associated protein 1
    Names
    HAP-1
    epididymis secretory sperm binding protein
    huntingtin-associated protein 2
    neuroan 1

    NCBI Reference Sequences (RefSeq)

    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
      ENSP00000343170.5, ENST00000341193.9
      Conserved Domains (2) summary
      pfam04849
      Location:109442
      HAP1_N; HAP1 N-terminal conserved region
      cl09930
      Location:309401
      RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.
    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
      Related
      ENSP00000377513.2, ENST00000393939.6
      Conserved Domains (2) summary
      pfam04849
      Location:109434
      HAP1_N; HAP1 N-terminal conserved region
      cl09930
      Location:301393
      RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.
    3. NM_001367459.1NP_001354388.1  huntingtin-associated protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC109319
    4. NM_001367460.1NP_001354389.1  huntingtin-associated protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC109319
    5. NM_001367461.1NP_001354390.1  huntingtin-associated protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC109319
    6. NM_001367462.1NP_001354391.1  huntingtin-associated protein 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC109319
    7. 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
      ENSP00000334002.4, ENST00000347901.8
      Conserved Domains (2) summary
      pfam04849
      Location:109439
      HAP1_N; HAP1 N-terminal conserved region
      pfam15908
      Location:302426
      HMMR_C; Hyaluronan mediated motility receptor C-terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      41717739..41734646 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.
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