U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    Htt huntingtin [ Mus musculus (house mouse) ]

    Gene ID: 15194, updated on 4-Jan-2025

    Summary

    Official Symbol
    Httprovided by MGI
    Official Full Name
    huntingtinprovided by MGI
    Primary source
    MGI:MGI:96067
    See related
    Ensembl:ENSMUSG00000029104 AllianceGenome:MGI:96067
    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; C430023I11Rik
    Summary
    Enables diazepam binding activity. Involved in several processes, including positive regulation of CAMKK-AMPK signaling cascade; postsynapse to nucleus signaling pathway; and regulation of protein localization to nucleus. Acts upstream of or within several processes, including nervous system development; positive regulation of cilium assembly; and transport along microtubule. Located in several cellular components, including centriole; inclusion body; and perinuclear region of cytoplasm. Is active in glutamatergic synapse. Is expressed in several structures, including central nervous system; olfactory epithelium; peripheral nervous system; retina; and testis. Used to study Huntington's disease. Human ortholog(s) of this gene implicated in Huntington's disease and Parkinson's disease. Orthologous to human HTT (huntingtin). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 10.2), cortex adult (RPKM 9.1) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Htt in Genome Data Viewer
    Location:
    5 B2; 5 17.92 cM
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (34919084..35069878)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (34761721..34912534)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:35002815-35002998 Neighboring gene NOP14 nucleolar protein Neighboring gene predicted gene 15522 Neighboring gene G protein-coupled receptor kinase 4 Neighboring gene microRNA 467g Neighboring gene STARR-positive B cell enhancer ABC_E1050 Neighboring gene Myb/SANT-like DNA-binding domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_12848 Neighboring gene STARR-seq mESC enhancer starr_12849 Neighboring gene regulator of G-protein signaling 12 Neighboring gene microRNA 3097

    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)

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables beta-tubulin binding  
    enables beta-tubulin binding  
    enables diazepam binding PubMed 
    enables dynactin binding  
    enables dynactin binding  
    enables dynein intermediate chain binding  
    enables dynein intermediate chain binding  
    enables heat shock protein binding  
    enables heat shock protein binding  
    enables identical protein binding  
    enables identical protein binding  
    enables kinase binding  
    enables kinase binding  
    enables p53 binding  
    enables p53 binding  
    enables phosphoprotein phosphatase activity  
    enables profilin binding  
    enables profilin binding  
    enables protein binding PubMed 
    enables signaling receptor binding  
    enables transcription factor binding PubMed 
    enables transmembrane transporter binding  
    enables transmembrane transporter binding  
    Items 1 - 25 of 87
    Process Evidence Code Pubs
    acts_upstream_of_or_within G protein-coupled dopamine receptor signaling pathway PubMed 
    involved_in Golgi organization  
    involved_in Golgi organization  
    acts_upstream_of_or_within anatomical structure morphogenesis PubMed 
    acts_upstream_of_or_within anterior/posterior pattern specification PubMed 
    acts_upstream_of_or_within associative learning PubMed 
    acts_upstream_of_or_within axo-dendritic transport PubMed 
    acts_upstream_of_or_within brain development PubMed 
    acts_upstream_of_or_within cellular senescence PubMed 
    acts_upstream_of_or_within central nervous system development PubMed 
    acts_upstream_of_or_within citrulline metabolic process PubMed 
    acts_upstream_of_or_within determination of adult lifespan PubMed 
    acts_upstream_of_or_within embryo development PubMed 
    acts_upstream_of_or_within endoplasmic reticulum organization PubMed 
    acts_upstream_of_or_within endoplasmic reticulum to Golgi vesicle-mediated transport PubMed 
    acts_upstream_of_or_within endosomal transport PubMed 
    involved_in establishment of mitotic spindle orientation  
    involved_in establishment of mitotic spindle orientation  
    acts_upstream_of_or_within gastrulation PubMed 
    acts_upstream_of_or_within gene expression PubMed 
    acts_upstream_of_or_within grooming behavior PubMed 
    acts_upstream_of_or_within hormone metabolic process PubMed 
    acts_upstream_of_or_within insulin secretion PubMed 
    acts_upstream_of_or_within lactate biosynthetic process from pyruvate PubMed 
    acts_upstream_of_or_within learning PubMed 
    acts_upstream_of_or_within learning or memory PubMed 
    acts_upstream_of_or_within locomotory behavior PubMed 
    involved_in mRNA transport  
    involved_in microtubule depolymerization  
    involved_in microtubule-based transport  
    acts_upstream_of_or_within mitochondrial transport PubMed 
    acts_upstream_of_or_within mitochondrion organization PubMed 
    acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis PubMed 
    acts_upstream_of_or_within negative regulation of apoptotic process PubMed 
    acts_upstream_of_or_within negative regulation of apoptotic process PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway  
    involved_in negative regulation of extrinsic apoptotic signaling pathway  
    acts_upstream_of_or_within neural plate formation PubMed 
    acts_upstream_of_or_within neurogenesis PubMed 
    NOT acts_upstream_of_or_within neuron development PubMed 
    acts_upstream_of_or_within neuron development PubMed 
    acts_upstream_of_or_within olfactory lobe development PubMed 
    acts_upstream_of_or_within paraxial mesoderm formation PubMed 
    acts_upstream_of_or_within peptide hormone secretion PubMed 
    involved_in positive regulation of CAMKK-AMPK signaling cascade  
    involved_in positive regulation of CAMKK-AMPK signaling cascade PubMed 
    involved_in positive regulation of aggrephagy  
    involved_in positive regulation of aggrephagy  
    involved_in positive regulation of apoptotic process  
    involved_in positive regulation of apoptotic process  
    involved_in positive regulation of cilium assembly  
    acts_upstream_of_or_within positive regulation of cilium assembly  
    involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  
    involved_in positive regulation of lipophagy  
    involved_in positive regulation of lipophagy  
    involved_in positive regulation of mitophagy  
    involved_in positive regulation of mitophagy  
    acts_upstream_of_or_within positive regulation of motile cilium assembly PubMed 
    acts_upstream_of_or_within positive regulation of non-motile cilium assembly PubMed 
    involved_in postsynapse to nucleus signaling pathway PubMed 
    involved_in postsynapse to nucleus signaling pathway PubMed 
    involved_in postsynapse to nucleus signaling pathway PubMed 
    involved_in protein destabilization  
    involved_in protein destabilization  
    acts_upstream_of_or_within protein localization to centrosome PubMed 
    acts_upstream_of_or_within protein localization to nucleus PubMed 
    acts_upstream_of_or_within quinolinate biosynthetic process PubMed 
    involved_in regulation of CAMKK-AMPK signaling cascade  
    involved_in regulation of cAMP-dependent protein kinase activity  
    involved_in regulation of gene expression PubMed 
    involved_in regulation of intracellular mRNA localization  
    involved_in regulation of neuron apoptotic process PubMed 
    involved_in regulation of protein localization to nucleus PubMed 
    acts_upstream_of_or_within regulation of synaptic plasticity PubMed 
    acts_upstream_of_or_within response to calcium ion PubMed 
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum  
    acts_upstream_of_or_within social behavior PubMed 
    acts_upstream_of_or_within spermatogenesis PubMed 
    acts_upstream_of_or_within striatum development PubMed 
    acts_upstream_of_or_within urea cycle PubMed 
    acts_upstream_of_or_within vesicle transport along microtubule PubMed 
    involved_in vesicle transport along microtubule  
    involved_in vesicle transport along microtubule  
    acts_upstream_of_or_within visual learning PubMed 
    involved_in vocal learning  
    involved_in vocal learning  
    Items 1 - 25 of 87
    Items 1 - 20 of 49
    Component Evidence Code Pubs
    located_in Golgi apparatus  
    located_in Golgi apparatus  
    located_in autophagosome  
    located_in autophagosome  
    located_in axon PubMed 
    located_in axon  
    located_in axon  
    located_in centriole PubMed 
    located_in centriole  
    located_in centriole  
    located_in clathrin-coated vesicle  
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytoplasm  
    located_in cytoplasmic vesicle PubMed 
    located_in cytoplasmic vesicle membrane  
    located_in cytoplasmic vesicle membrane  
    located_in cytosol  
    located_in dendrite  
    located_in dendrite  
    located_in early endosome  
    located_in early endosome  
    located_in endoplasmic reticulum PubMed 
    located_in endoplasmic reticulum  
    located_in endoplasmic reticulum  
    is_active_in glutamatergic synapse PubMed 
    is_active_in glutamatergic synapse PubMed 
    is_active_in glutamatergic synapse PubMed 
    located_in inclusion body PubMed 
    located_in inclusion body  
    located_in inclusion body  
    located_in late endosome  
    located_in late endosome  
    located_in neuronal cell body  
    located_in neuronal ribonucleoprotein granule  
    located_in nucleoplasm  
    located_in nucleoplasm  
    located_in nucleoplasm  
    located_in nucleus  
    located_in perinuclear region of cytoplasm PubMed 
    located_in perinuclear region of cytoplasm  
    located_in perinuclear region of cytoplasm  
    located_in postsynaptic cytosol  
    is_active_in postsynaptic cytosol  
    located_in presynaptic cytosol  
    is_active_in presynaptic cytosol  
    part_of protein-containing complex  
    part_of protein-containing complex  
    located_in synaptic membrane  
    Items 1 - 20 of 49

    General protein information

    Preferred Names
    huntingtin
    Names
    HD protein homolog
    Huntington disease gene homolog
    huntington disease protein homolog

    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_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/Swiss-Prot
      P42859
      UniProtKB/TrEMBL
      G3X9H5
      Related
      ENSMUSP00000078945.3, ENSMUST00000080036.3
      Conserved Domains (2) summary
      pfam12372
      Location:15061532
      DUF3652; Huntingtin protein region
      sd00044
      Location:111133
      HEAT; HEAT repeat [structural motif]

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      34919084..35069878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503744.4XP_006503807.1  huntingtin isoform X1

      UniProtKB/Swiss-Prot
      P42859
      Conserved Domains (1) summary
      pfam12372
      Location:13561396
      DUF3652; Huntingtin protein region
    2. XM_017320683.2XP_017176172.1  huntingtin isoform X2

      Conserved Domains (2) summary
      PRK15127
      Location:11221211
      PRK15127; multidrug efflux RND transporter permease subunit AcrB
      pfam12372
      Location:208248
      DUF3652; Huntingtin protein region

    RNA

    1. XR_376798.4 RNA Sequence

    External link. Please review our privacy policy.