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    HTT huntingtin [ Homo sapiens (human) ]

    Gene ID: 3064, updated on 6-Dec-2016
    Official Symbol
    HTTprovided by HGNC
    Official Full Name
    huntingtinprovided by HGNC
    Primary source
    HGNC:HGNC:4851
    See related
    Ensembl:ENSG00000197386 MIM:613004; Vega:OTTHUMG00000159916
    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
    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]
    Orthologs
    Location:
    4p16.3
    Exon count:
    67
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (3074510..3243960)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (3076408..3245687)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene NOP14 nucleolar protein Neighboring gene G protein-coupled receptor kinase 4 Neighboring gene RNA, U6 small nuclear 204, pseudogene Neighboring gene HTT antisense RNA (head to head) Neighboring gene RNA, U7 small nuclear 33 pseudogene 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
    • 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...
    • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
      Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dynactin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    dynein intermediate chain 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 
    kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    profilin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    animal organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of mitotic spindle orientation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of aggrephagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    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 lipophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of mitophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein phosphatase type 2A activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retrograde vesicle-mediated transport, Golgi to ER IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vesicle transport along microtubule IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vocal learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    autophagosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    huntingtin
    Names
    huntington disease protein

    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)

    mRNA and Protein(s)

    1. NM_002111.8NP_002102.4  huntingtin

      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
      Related
      ENSP00000347184, OTTHUMP00000217025, ENST00000355072, OTTHUMT00000358234
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      3074510..3243960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      3074294..3243442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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