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HTT huntingtin [ Homo sapiens (human) ]

Gene ID: 3064, updated on 19-Jul-2021

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
109.20210514 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 
located_in postsynaptic cytosol IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in presynaptic cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_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 109.20210514

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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