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Gene: HTT (huntingtin) Homo sapiens
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Symbol: HTT
Name: huntingtin
Description: Exhibits several functions, including cytoskeletal protein binding activity; dynein intermediate chain binding activity; and ion channel binding activity. Involved in several processes, including positive regulation of autophagy; regulation of apoptotic process; and regulation of calcium-mediated signaling. Localizes to several cellular components, including the centriole; cytoplasmic vesicle; and postsynaptic cytosol. Implicated in Huntington's disease and Parkinson's disease. Biomarker of Huntington's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HD; huntington disease gene homolog; huntington disease protein; IT15; LOMARS
Orthologs:
Mus musculus (house mouse) : Htt (huntingtin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Htt (huntingtin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Htt (huntingtin)
Pan paniscus (bonobo/pygmy chimpanzee) : HTT (huntingtin)
Canis lupus familiaris (dog) : HTT (huntingtin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Htt (huntingtin)
Sus scrofa (pig) : HTT (huntingtin)
Chlorocebus sabaeus (African green monkey) : HTT (huntingtin)
Heterocephalus glaber (naked mole-rat) : Htt (huntingtin)
more info ...
Allele / Splice: See ClinVar data
Is Marker For: Strains:   SD-Tg(Htt*)  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl43,041,422 - 3,243,960 (+)Ensembl
GRCh3843,074,681 - 3,243,960 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3743,076,408 - 3,245,687 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3643,046,206 - 3,215,485 (+)NCBINCBI36hg18NCBI36
Build 3443,113,411 - 3,282,656NCBI
Celera42,987,658 - 3,157,211 (+)NCBI
Cytogenetic Map4p16.3NCBI
HuRef43,014,819 - 3,184,168 (+)NCBIHuRef
CHM1_143,074,294 - 3,243,442 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
Related Rat Strains
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on HTT
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 68472
Created: 2001-07-11
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.