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HTT huntingtin [ Homo sapiens (human) ]

Gene ID: 3064, updated on 19-Jul-2014
Official Symbol
HTTprovided by HGNC
Official Full Name
huntingtinprovided by HGNC
Primary source
HGNC:4851
See related
Ensembl:ENSG00000197386; HPRD:00883; 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 in the number of trinucleotide repeats 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 2008]
Location:
4p16.3
Exon count :
67
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (3074681..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 HTT antisense RNA (head to head) Neighboring gene Myb/SANT-like DNA-binding domain containing 1 Neighboring gene X antigen family, member 3 pseudogene Neighboring gene regulator of G-protein signaling 12

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • 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...
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 
diazepam binding IEA
Inferred from Electronic Annotation
more info
 
dynactin binding IPI
Inferred from Physical Interaction
more info
PubMed 
dynein intermediate chain binding IDA
Inferred from Direct Assay
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
 
p53 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
ER to Golgi vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
 
Golgi organization IMP
Inferred from Mutant Phenotype
more info
 
L-glutamate import IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
axon cargo transport IEA
Inferred from Electronic Annotation
more info
 
cell aging IEA
Inferred from Electronic Annotation
more info
 
citrulline metabolic process IEA
Inferred from Electronic Annotation
more info
 
determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
 
dopamine receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum organization IEA
Inferred from Electronic Annotation
more info
 
endosomal transport IEA
Inferred from Electronic Annotation
more info
 
establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
 
grooming behavior IEA
Inferred from Electronic Annotation
more info
 
hormone metabolic process IEA
Inferred from Electronic Annotation
more info
 
insulin secretion IEA
Inferred from Electronic Annotation
more info
 
iron ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
lactate biosynthetic process from pyruvate IEA
Inferred from Electronic Annotation
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
negative regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neural plate formation IEA
Inferred from Electronic Annotation
more info
 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neuron development IEA
Inferred from Electronic Annotation
more info
 
olfactory lobe development IEA
Inferred from Electronic Annotation
more info
 
organ development IBA
Inferred from Biological aspect of Ancestor
more info
 
paraxial mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
protein import into nucleus IEA
Inferred from Electronic Annotation
more info
 
quinolinate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrial membrane permeability IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrial membrane potential IEA
Inferred from Electronic Annotation
more info
 
regulation of protein phosphatase type 2A activity IMP
Inferred from Mutant Phenotype
more info
 
regulation of synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
retrograde vesicle-mediated transport, Golgi to ER IMP
Inferred from Mutant Phenotype
more info
 
social behavior IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
striatum development IEA
Inferred from Electronic Annotation
more info
 
urea cycle IEA
Inferred from Electronic Annotation
more info
 
vesicle transport along microtubule IMP
Inferred from Mutant Phenotype
more info
 
visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
autophagic vacuole IDA
Inferred from Direct Assay
more info
PubMed 
axon 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
 
dendrite IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
inclusion body IEA
Inferred from Electronic Annotation
more info
 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
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
huntingtin
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 

    Range
    4830..174286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002111.7NP_002102.4  huntingtin

    See proteins identical to NP_002102.4

    Status: REVIEWED

    Source sequence(s)
    AL390059, BC014028, L12392
    Consensus CDS
    CCDS43206.1
    UniProtKB/Swiss-Prot
    P42858
    Related
    ENSP00000347184, OTTHUMP00000217025, ENST00000355072, OTTHUMT00000358234
    Conserved Domains (1) summary
    pfam12372
    Location:15131555
    Blast Score: 148
    DUF3652; Huntingtin protein region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

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

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    3014819..3184168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    3074471..3243442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

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