may play a role in microtubule-mediated transport or vesicle function. Widely expressed with the highest level of expression in the brain (nerve fibers, varicosities, and nerve endings). In the brain, the regions where it can be mainly found are the cerebellar cortex, the neocortex, the striatum, and the hippocampal formation. Defects are the cause of 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. 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 isoforms displaying different relative abundance in various fetal and adult tissues. Note: This description may include information from UniProtKB.
Molecular Function: identical protein binding; protein binding; p53 binding; dynein intermediate chain binding; beta-tubulin binding; diazepam binding; transcription factor binding
Biological Process: ER to Golgi vesicle-mediated transport; citrulline metabolic process; paraxial mesoderm formation; regulation of protein phosphatase type 2A activity; regulation of synaptic plasticity; locomotory behavior; determination of adult life span; endosome transport; regulation of protein export from nucleus; anterior/posterior pattern formation; L-glutamate import; regulation of mitochondrial membrane potential; establishment of mitotic spindle orientation; protein import into nucleus; organ development; quinolinate biosynthetic process; vesicle transport along microtubule; retrograde vesicle-mediated transport, Golgi to ER; visual learning; negative regulation of neuron apoptosis; Golgi organization and biogenesis; endoplasmic reticulum organization and biogenesis; grooming behavior; striatum development; axon cargo transport; cell aging; olfactory lobe development; social behavior; lactate biosynthetic process from pyruvate; iron ion homeostasis; neuron apoptosis; insulin secretion; dopamine receptor signaling pathway; neuron development; hormone metabolic process; spermatogenesis; regulation of mitochondrial membrane permeability; response to calcium ion; neural plate formation; urea cycle
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.