Huntingtin Recombinant Rabbit Monoclonal Antibody [JB89-34] (ET7107-60)

UNIPROT #

P42858

PROTEIN NAME

Huntingtin

SYNONYMS

AI256365 antibody;C430023I11Rik antibody;HD antibody;HD protein antibody;HD_HUMAN antibody;HDH antibody;HTT antibody;Huntingtin antibody;HUNTINGTON CHOREA antibody;Huntington disease protein antibody;Huntington's disease protein homolog antibody;IT 15 antibody;IT15 antibody;OTTMUSP00000026909 antibody;ZHD antibody

SEQUENCE SIMILARITIES

Belongs to the huntingtin family.

TISSUE SPECIFICITY

Expressed in the brain cortex (at protein level). 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.

POST-TRANSLATIONAL MODIFICATION

[Huntingtin]: Cleaved by caspases downstream of the polyglutamine stretch. The resulting N-terminal fragments are cytotoxic and provokes apoptosis.; [Huntingtin]: Forms with expanded polyglutamine expansion are specifically ubiquitinated by SYVN1, which promotes their proteasomal degradation.; [Huntingtin]: Phosphorylation at Ser-1179 and Ser-1199 by CDK5 in response to DNA damage in nuclei of neurons protects neurons against polyglutamine expansion as well as DNA damage mediated toxicity.; [Huntingtin, myristoylated N-terminal fragment]: Myristoylated at Gly-551, following proteolytic cleavage at Asp-550.

SUBCELLULAR LOCATION

Cytoplasm. Nucleus.

FUNCTION

Huntingtin (Htt) is the protein coded for by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage. 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 more 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. Within cells, huntingtin may or may not be involved in signaling, transporting materials, binding proteins and other structures, and protecting against apoptosis, a form of programmed cell death. 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.