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    Htt huntingtin [ Mus musculus (house mouse) ]

    Gene ID: 15194, updated on 12-Mar-2017
    Official Symbol
    Httprovided by MGI
    Official Full Name
    huntingtinprovided by MGI
    Primary source
    MGI:MGI:96067
    See related
    Ensembl:ENSMUSG00000029104 Vega:OTTMUSG00000023182
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Hd; Hdh; IT15; AI256365; C430023I11Rik
    Orthologs
    Location:
    5 B2; 5 17.92 cM
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 5 NC_000071.6 (34761736..34912534)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 5 NC_000071.5 (35104389..35252045)

    Chromosome 5 - NC_000071.6Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC108169039 Neighboring gene NOP14 nucleolar protein Neighboring gene G protein-coupled receptor kinase 4 Neighboring gene microRNA 467g Neighboring gene Myb/SANT-like DNA-binding domain containing 1 Neighboring gene regulator of G-protein signaling 12 Neighboring gene microRNA 3097

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
    • 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...
    • XPodNet - protein-protein interactions in the podocyte expanded by STRING, organism-specific biosystem (from WikiPathways)
      XPodNet - protein-protein interactions in the podocyte expanded by STRING, organism-specific biosystemXPodNet is a larger version of PodNet. Interactions from STRING database have been added to PodNet to build XPodNet. Hence, not all interactions found in XPodNet do necessarily have to be curated.
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    beta-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    diazepam binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dynactin binding ISO
    Inferred from Sequence Orthology
    more info
     
    dynein intermediate chain binding ISO
    Inferred from Sequence Orthology
    more info
     
    identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    ion channel binding ISO
    Inferred from Sequence Orthology
    more info
     
    kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    p53 binding ISO
    Inferred from Sequence Orthology
    more info
     
    profilin binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ER to Golgi vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Golgi organization ISO
    Inferred from Sequence Orthology
    more info
     
    L-glutamate import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    anatomical structure morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    anterior/posterior pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    associative learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    axo-dendritic transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell aging IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    central nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    citrulline metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    determination of adult lifespan IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dopamine receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryo development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endoplasmic reticulum organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of mitotic spindle orientation ISO
    Inferred from Sequence Orthology
    more info
     
    gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    grooming behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hormone metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lactate biosynthetic process from pyruvate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    learning or memory IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mRNA transport ISO
    Inferred from Sequence Orthology
    more info
     
    mitochondrial transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cysteine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of extrinsic apoptotic signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of neuron death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neural plate formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT neuron development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    olfactory lobe development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    paraxial mesoderm formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptide hormone secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of aggrephagy ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of cilium assembly ISO
    Inferred from Sequence Orthology
    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 lipophagy ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of mitophagy ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to centrosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    quinolinate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of intracellular mRNA localization ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of mitochondrial membrane permeability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of mitochondrial membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of phosphoprotein phosphatase activity ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of synaptic plasticity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to calcium ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retrograde vesicle-mediated transport, Golgi to ER ISO
    Inferred from Sequence Orthology
    more info
     
    social behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    striatum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    urea cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vesicle transport along microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vesicle transport along microtubule ISO
    Inferred from Sequence Orthology
    more info
     
    visual learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vocal learning ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    autophagosome ISO
    Inferred from Sequence Orthology
    more info
     
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon ISO
    Inferred from Sequence Orthology
    more info
     
    centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centriole ISO
    Inferred from Sequence Orthology
    more info
     
    clathrin-coated vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    inclusion body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with neuronal ribonucleoprotein granule ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    postsynaptic density ISO
    Inferred from Sequence Orthology
    more info
     
    protein complex ISO
    Inferred from Sequence Orthology
    more info
     
    synaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    huntingtin
    Names
    HD protein homolog
    Huntington disease gene homolog
    huntington disease protein homolog

    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_010414.3NP_034544.1  huntingtin

      See identical proteins and their annotated locations for NP_034544.1

      Status: VALIDATED

      Source sequence(s)
      AC133204, AC151669, BQ175932
      Consensus CDS
      CCDS19220.1
      UniProtKB/TrEMBL
      G3X9H5
      Related
      ENSMUSP00000078945, OTTMUSP00000026909, ENSMUST00000080036, OTTMUST00000056080
      Conserved Domains (2) summary
      pfam12372
      Location:15061532
      DUF3652; Huntingtin protein region
      sd00044
      Location:111133
      HEAT; HEAT repeat [structural motif]

    RefSeqs of Annotated Genomes: Mus musculus 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 GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000071.6 Reference GRCm38.p4 C57BL/6J

      Range
      34761736..34912534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503744.2XP_006503807.1  huntingtin isoform X1

      Conserved Domains (1) summary
      pfam12372
      Location:13681394
      DUF3652; Huntingtin protein region
    2. XM_017320683.1XP_017176172.1  huntingtin isoform X2

    RNA

    1. XR_376798.2 RNA Sequence

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