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    HTT huntingtin [ Homo sapiens (human) ]

    Gene ID: 3064, updated on 17-Jan-2022

    Summary

    Official Symbol
    HTTprovided by HGNC
    Official Full Name
    huntingtinprovided by HGNC
    Primary source
    HGNC:HGNC:4851
    See related
    Ensembl:ENSG00000197386 MIM:613004
    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
    HD; IT15; LOMARS
    Summary
    Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in brain (RPKM 9.1), skin (RPKM 8.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See HTT in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (3074681..3243960)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (3076408..3245687)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 204, pseudogene Neighboring gene huntingtin repeat instability region Neighboring gene HTT antisense RNA Neighboring gene RNA, U7 small nuclear 33 pseudogene Neighboring gene Sharpr-MPRA regulatory region 10599 Neighboring gene Myb/SANT DNA binding domain containing 1 Neighboring gene X antigen family member 3 pseudogene Neighboring gene regulator of G protein signaling 12 Neighboring gene ribosomal protein L7a pseudogene 29

    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 Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag The interaction of HIV-1 CA with human cellular huntingtin protein (HTT) is identified by yeast two-hybrid screen PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables dynactin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables dynein intermediate chain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heat shock protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables profilin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of mitotic spindle orientation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in microtubule-based transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of aggrephagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of autophagy of mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of lipophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of CAMKK-AMPK signaling cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cAMP-dependent protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of phosphoprotein phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vesicle transport along microtubule IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vocal learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in autophagosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytoplasmic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in inclusion body IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in postsynaptic cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in presynaptic cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    huntingtin
    Names
    huntington disease protein

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_009378.1 RefSeqGene

      Range
      5001..174286
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_763

    mRNA and Protein(s)

    1. NM_001388492.1NP_001375421.1  huntingtin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL390059
      Related
      ENSP00000347184.5, ENST00000355072.11
      Conserved Domains (2) summary
      sd00044
      Location:131153
      HEAT; HEAT repeat [structural motif]
      pfam12372
      Location:15131553
      DUF3652; Huntingtin protein region
    2. NM_002111.8NP_002102.4  huntingtin isoform 2

      See identical proteins and their annotated locations for NP_002102.4

      Status: REVIEWED

      Source sequence(s)
      AL390059, BM661887, L12392
      Consensus CDS
      CCDS43206.1
      UniProtKB/Swiss-Prot
      P42858
      Conserved Domains (2) summary
      pfam12372
      Location:15271553
      DUF3652; Huntingtin protein region
      sd00044
      Location:133155
      HEAT; HEAT repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      3074681..3243960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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