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HTT huntingtin [ Homo sapiens (human) ]

Gene ID: 3064, updated on 3-Jun-2018
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; 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
See HTT in Genome Data Viewer
Location:
4p16.3
Exon count:
67
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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 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

  • 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 Jun 15 11:32:44 2016

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 
heat shock protein binding IPI
Inferred from Physical Interaction
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 
Process Evidence Code Pubs
Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of autophagy of mitochondrion 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 
protein destabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of CAMKK-AMPK signaling cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cAMP-dependent protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of phosphoprotein phosphatase 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 
cytoplasm IMP
Inferred from Mutant Phenotype
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 
inclusion body IMP
Inferred from Mutant Phenotype
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 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
perinuclear region of cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IMP
Inferred from Mutant Phenotype
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
    ENSP00000347184.5, OTTHUMP00000217025, ENST00000355072.10, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

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