Huntingtin

Identifiers Symbols HTT; HD; IT15 External IDs OMIM: 613004 MGI: 96067 HomoloGene: 1593 ChEMBL: 5514 GeneCards: HTT Gene

Gene Ontology
Molecular function	• p53 binding • protein binding • transcription factor binding • dynactin binding • dynein intermediate chain binding • beta-tubulin binding • diazepam binding
Cellular component	• nucleus • nucleolus • cytoplasm • late endosome • autophagic vacuole • endoplasmic reticulum • Golgi apparatus • cytosol • inclusion body • axon • dendrite • cytoplasmic vesicle membrane • protein complex
Biological process	• urea cycle • citrulline metabolic process • establishment of mitotic spindle orientation • protein import into nucleus • ER to Golgi vesicle-mediated transport • retrograde vesicle-mediated transport, Golgi to ER • anti-apoptosis • endoplasmic reticulum organization • Golgi organization • dopamine receptor signaling pathway • spermatogenesis • cell aging • locomotory behavior • axon cargo transport • determination of adult lifespan • visual learning • anterior/posterior pattern specification • endosomal transport • lactate biosynthetic process from pyruvate • quinolinate biosynthetic process • striatum development • olfactory lobe development • neural plate formation • insulin secretion • regulation of protein phosphatase type 2A activity • social behavior • hormone metabolic process • negative regulation of neuron apoptotic process • regulation of mitochondrial membrane permeability • vesicle transport along microtubule • regulation of synaptic plasticity • paraxial mesoderm formation • organ development • neuron development • neuron apoptotic process • response to calcium ion • regulation of mitochondrial membrane potential • L-glutamate import • iron ion homeostasis • negative regulation of extrinsic apoptotic signaling pathway
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 3064 15194 Ensembl ENSG00000197386 ENSMUSG00000029104 UniProt P42858 P42859 RefSeq (mRNA) NM_002111.6 NM_010414.2 RefSeq (protein) NP_002102.4 NP_034544.1 Location (UCSC) Chr 4:
3.08 – 3.25 Mb Chr 5:
34.76 – 34.91 Mb PubMed search

The huntingtin gene, also called HTT or HD (Huntington disease) gene, is the IT15 ("interesting transcript 15") gene which codes for a protein called the huntingtin protein. The gene and its product are under heavy investigation as part of Huntington's disease clinical research.