Huntingtin
| 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 | |
3.08 – 3.25 Mb
34.76 – 34.91 Mb
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.
It is variable in its structure, as the many polymorphisms of the gene can lead to variable numbers of glutamine residues present in the protein. In its wild-type (normal) form, it contains 6-35 glutamine residues. However, in individuals affected by Huntington's disease (an autosomal dominant genetic disorder), it contains greater than 36 glutamine residues (highest reported repeat length is about 250). Its commonly used name is derived from this disease; previously, the IT15 label was commonly used.
The mass of huntingtin protein is dependent largely on the number of glutamine residues it has, the predicted mass is around 350 kDa. Normal huntingtin is generally accepted to be 3144 amino acids in size. The exact function of this protein is not known, but it plays an important role in nerve cells. Within cells, huntingtin may be involved in signaling, transporting materials, binding proteins and other structures, and protecting against programmed cell death (apoptosis). The huntingtin protein is required for normal development before birth. It is expressed in many tissues in the body, with the highest levels of expression seen in the brain.
Read more about Huntingtin: Gene, Clinical Significance