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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)
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
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


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

CRRD Object Information
CRRD ID: 68472
Created: 2001-07-11
Species: Homo sapiens
Last Modified: 2019-11-26
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.