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    Hap1 huntingtin-associated protein 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 29430, updated on 2-Oct-2018

    Summary

    Official Symbol
    Hap1provided by RGD
    Official Full Name
    huntingtin-associated protein 1provided by RGD
    Primary source
    RGD:68327
    See related
    Ensembl:ENSRNOG00000014819
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    HAP1-A; HAP1-B
    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 is homologous to the human huntingtin-associated protein 1. The human protein 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. Two transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in Brain (RPKM 163.9), Thymus (RPKM 48.7) and 3 other tissues See more
    Orthologs

    Genomic context

    See Hap1 in Genome Data Viewer
    Location:
    10q31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    106 current Rnor_6.0 (GCF_000001895.5) 10 NC_005109.4 (88257975..88266210, complement)
    104 previous assembly Rnor_5.0 (GCF_000001895.4) 10 NC_005109.3 (88051219..88059478, complement)

    Chromosome 10 - NC_005109.4Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 1 Neighboring gene gastrin Neighboring gene junction plakoglobin Neighboring gene uncharacterized LOC108352135

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 RGD

    Function Evidence Code Pubs
    brain-derived neurotrophic factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ion channel binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    anterograde axonal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    anterograde axonal transport IEA
    Inferred from Electronic Annotation
    more info
     
    anterograde axonal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    anterograde axonal transport ISO
    Inferred from Sequence Orthology
    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
     
    cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to growth factor stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    cerebellum development IEA
    Inferred from Electronic Annotation
    more info
     
    cerebellum development ISO
    Inferred from Sequence Orthology
    more info
     
    early endosome to late endosome transport 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
     
    hypothalamus cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    mitochondrion distribution IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of amyloid-beta formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neurogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neurotrophin TRK receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neurotrophin TRK receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    neurotrophin TRK receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    neurotrophin TRK receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of epidermal growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of inclusion body assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neurogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neurotrophin production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neurotrophin production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of non-motile cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of synaptic transmission, GABAergic IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of synaptic transmission, GABAergic IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    protein targeting IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of exocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of organelle transport along microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of organelle transport along microtubule ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of organelle transport along microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of postsynaptic neurotransmitter receptor internalization EXP
    Inferred from Experiment
    more info
    PubMed 
    regulation of postsynaptic neurotransmitter receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    retrograde axonal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vesicle transport along microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    vesicle transport along microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle transport along microtubule ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    GABA-ergic synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    GABA-ergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    autophagosome IEA
    Inferred from Electronic Annotation
    more info
     
    autophagosome ISO
    Inferred from Sequence Orthology
    more info
     
    axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    axon terminus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    centriole IEA
    Inferred from Electronic Annotation
    more info
     
    centriole ISO
    Inferred from Sequence Orthology
    more info
     
    centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendrite cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    early endosome TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    growth cone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inclusion body IEA
    Inferred from Electronic Annotation
    more info
     
    inclusion body ISO
    Inferred from Sequence Orthology
    more info
     
    late endosome TAS
    Traceable Author Statement
    more info
    PubMed 
    lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    presynaptic cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    huntingtin-associated protein 1
    Names
    HAP-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_024133.3NP_077047.1  huntingtin-associated protein 1 isoform A

      See identical proteins and their annotated locations for NP_077047.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the shorter isoform (A).
      Source sequence(s)
      U38373
      UniProtKB/Swiss-Prot
      P54256
      Related
      ENSRNOP00000072494.1, ENSRNOT00000090702.1
      Conserved Domains (2) summary
      pfam04849
      Location:83403
      HAP1_N; HAP1 N-terminal conserved region
      cl09176
      Location:267353
      FlgN; FlgN protein
    2. NM_177982.2NP_817091.1  huntingtin-associated protein 1 isoform B

      See identical proteins and their annotated locations for NP_817091.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 3' coding region that causes a frameshift, and lacks a segment in the 3' UTR, compared to variant 1. The encoded protein (isoform B) is longer and has a distinct C-terminus, compared to isoform A.
      Source sequence(s)
      U38370
      UniProtKB/Swiss-Prot
      P54256
      Related
      ENSRNOP00000020603.3, ENSRNOT00000020603.5
      Conserved Domains (2) summary
      pfam04849
      Location:83403
      HAP1_N; HAP1 N-terminal conserved region
      cl09176
      Location:267353
      FlgN; FlgN protein

    RefSeqs of Annotated Genomes: Rattus norvegicus Annotation Release 106 details...Open this link in a new tab

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

    Reference Rnor_6.0 Primary Assembly

    Genomic

    1. NC_005109.4 Reference Rnor_6.0 Primary Assembly

      Range
      88257975..88266210 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Rn_Celera

    Genomic

    1. AC_000078.1 Alternate Rn_Celera

      Range
      83995991..84004228 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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