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    Hap1 huntingtin-associated protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 15114, updated on 4-Jan-2025

    Summary

    Official Symbol
    Hap1provided by MGI
    Official Full Name
    huntingtin-associated protein 1provided by MGI
    Primary source
    MGI:MGI:1261831
    See related
    Ensembl:ENSMUSG00000006930 AllianceGenome:MGI:1261831
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HAP-1
    Summary
    The protein encoded by this gene was first identified as a neuronal protein that binds the HD protein huntingtin. The protein also interacts with kinesin light chain, 14-3-3 proteins, and Abelson helper integration site 1 protein. The protein is involved in intracellular trafficking of vesicles and organelles, and lack of the protein results in neuronal death resembling the hypothalamic degeneration that occurs in Huntington's disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
    Expression
    Biased expression in CNS E18 (RPKM 65.1), whole brain E14.5 (RPKM 47.4) and 11 other tissues See more
    Orthologs
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    Genomic context

    See Hap1 in Genome Data Viewer
    Location:
    11 63.47 cM; 11 D
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (100238153..100247808, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (100347327..100356982, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1148 Neighboring gene STARR-positive B cell enhancer ABC_E3019 Neighboring gene STARR-positive B cell enhancer ABC_E11493 Neighboring gene eukaryotic translation initiation factor 1 Neighboring gene gastrin Neighboring gene predicted pseudogene 10039 Neighboring gene STARR-seq mESC enhancer starr_30729 Neighboring gene junction plakoglobin Neighboring gene STARR-seq mESC enhancer starr_30732 Neighboring gene STARR-positive B cell enhancer ABC_E3999

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (7)  1 citation

    Interactions

    General gene information

    Clone Names

    • MGC31449

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables brain-derived neurotrophic factor binding  
    enables brain-derived neurotrophic factor binding  
    enables identical protein binding  
    enables myosin binding  
    enables protein binding PubMed 
    enables protein domain specific binding  
    enables signaling receptor binding  
    enables signaling receptor binding  
    enables transmembrane transporter binding  
    enables transmembrane transporter binding  
    Items 1 - 25 of 40
    Process Evidence Code Pubs
    involved_in anterograde axonal transport PubMed 
    involved_in anterograde axonal transport  
    involved_in anterograde axonal transport  
    involved_in anterograde axonal transport of mitochondrion  
    involved_in autophagy  
    involved_in cell projection organization  
    involved_in cerebellum development PubMed 
    involved_in exocytosis  
    involved_in hypothalamus cell differentiation PubMed 
    involved_in mitochondrion distribution  
    involved_in negative regulation of amyloid-beta formation  
    involved_in negative regulation of amyloid-beta formation  
    involved_in neurogenesis  
    involved_in neurogenesis PubMed 
    involved_in neuron projection development  
    involved_in neurotrophin TRK receptor signaling pathway  
    involved_in neurotrophin TRK receptor signaling pathway PubMed 
    involved_in positive regulation of epidermal growth factor receptor signaling pathway  
    involved_in positive regulation of epidermal growth factor receptor signaling pathway  
    involved_in positive regulation of inclusion body assembly  
    involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity PubMed 
    involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  
    involved_in positive regulation of neurogenesis PubMed 
    involved_in positive regulation of neuron projection development  
    involved_in positive regulation of neurotrophin production  
    involved_in positive regulation of neurotrophin production  
    acts_upstream_of_or_within positive regulation of non-motile cilium assembly PubMed 
    involved_in positive regulation of non-motile cilium assembly PubMed 
    involved_in positive regulation of synaptic transmission, GABAergic  
    involved_in positive regulation of synaptic transmission, GABAergic  
    involved_in protein localization  
    involved_in protein targeting  
    involved_in protein transport  
    involved_in regulation of exocytosis PubMed 
    involved_in regulation of organelle transport along microtubule PubMed 
    involved_in regulation of postsynaptic neurotransmitter receptor internalization  
    involved_in retrograde axonal transport  
    involved_in retrograde axonal transport  
    involved_in vesicle transport along microtubule  
    acts_upstream_of_or_within vesicle transport along microtubule PubMed 
    Items 1 - 25 of 40
    Items 1 - 20 of 29
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse  
    located_in autophagosome PubMed 
    located_in axon cytoplasm  
    located_in axon terminus  
    located_in centriole PubMed 
    located_in centrosome PubMed 
    located_in cytoplasm  
    is_active_in cytoplasmic vesicle  
    located_in cytoplasmic vesicle PubMed 
    located_in cytosol  
    located_in cytosol  
    is_active_in dendrite  
    located_in dendrite  
    located_in dendritic spine  
    located_in early endosome  
    located_in endoplasmic reticulum  
    located_in growth cone  
    located_in growth cone  
    located_in inclusion body  
    located_in inclusion body  
    located_in lysosome  
    is_active_in mitochondrion  
    located_in mitochondrion  
    located_in nucleolus  
    located_in nucleolus  
    located_in perinuclear region of cytoplasm  
    is_active_in postsynaptic cytosol  
    is_active_in presynaptic cytosol  
    located_in synaptic vesicle  
    Items 1 - 20 of 29

    General protein information

    Preferred Names
    huntingtin-associated protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001359052.1NP_001345981.1  huntingtin-associated protein 1 isoform C

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform C, which is shorter than isoform B.
      Source sequence(s)
      BC053043
      Conserved Domains (1) summary
      pfam04849
      Location:82402
      HAP1_N; HAP1 N-terminal conserved region
    2. NM_010404.3NP_034534.1  huntingtin-associated protein 1 isoform A

      See identical proteins and their annotated locations for NP_034534.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 3' CDS and 3' UTR compared to variant 2. It encodes isoform A, which has a shorter and distinct C-terminus, compared to isoform B.
      Source sequence(s)
      AK138436, AL590968, BC053043, BY288360
      Consensus CDS
      CCDS25419.1
      UniProtKB/Swiss-Prot
      O35668
      Related
      ENSMUSP00000099413.5, ENSMUST00000103124.11
      Conserved Domains (2) summary
      pfam04849
      Location:82402
      HAP1_N; HAP1 N-terminal conserved region
      cl09176
      Location:266352
      FlgN; FlgN protein
    3. NM_177981.2NP_817090.1  huntingtin-associated protein 1 isoform B

      See identical proteins and their annotated locations for NP_817090.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (B).
      Source sequence(s)
      BC053043, BY288360
      Consensus CDS
      CCDS56806.1
      UniProtKB/Swiss-Prot
      O35636, O35668
      Related
      ENSMUSP00000133356.2, ENSMUST00000138603.9
      Conserved Domains (1) summary
      pfam04849
      Location:82402
      HAP1_N; HAP1 N-terminal conserved region

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      100238153..100247808 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030245581.1XP_030101441.1  huntingtin-associated protein 1 isoform X2

      UniProtKB/Swiss-Prot
      O35636, O35668
      Conserved Domains (1) summary
      pfam04849
      Location:82402
      HAP1_N; HAP1 N-terminal conserved region
    2. XM_030245580.1XP_030101440.1  huntingtin-associated protein 1 isoform X1

      Conserved Domains (1) summary
      pfam04849
      Location:82403
      HAP1_N; HAP1 N-terminal conserved region
    3. XM_011248745.4XP_011247047.1  huntingtin-associated protein 1 isoform X3

      Conserved Domains (1) summary
      pfam04849
      Location:82403
      HAP1_N; HAP1 N-terminal conserved region
    4. XM_011248744.4XP_011247046.1  huntingtin-associated protein 1 isoform X1

      Conserved Domains (1) summary
      pfam04849
      Location:82403
      HAP1_N; HAP1 N-terminal conserved region
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