Htt
Developmental stage
Predominant expression in neuronal tissues at all developmental stages. In 14.5 day old embryos, it is also detected in non-neuronal tissues. This expression is down-regulated in later stages of development.
Domain
The N-terminal Gln-rich and Pro-rich domain has great conformational flexibility and is likely to exist in a fluctuating equilibrium of alpha-helical, random coil, and extended conformations.
Function
Huntingtin
May play a role in microtubule-mediated transport or vesicle function.
Huntingtin, myristoylated N-terminal fragment
Promotes the formation of autophagic vesicles.
Post-translational modifications
Phosphorylation at Ser-1159 and Ser-1179 by CDK5 in response to DNA damage in nuclei of neurons protects neurons against polyglutamine expansion as well as DNA damage mediated toxicity.
Huntingtin
Cleaved by caspases downstream of the polyglutamine stretch.
Huntingtin, myristoylated N-terminal fragment
Myristoylated at Gly-530, following proteolytic cleavage at Asp-529.
Sequence Similarities
Belongs to the huntingtin family.
Tissue Specificity
The highest level is seen throughout the brain, but it is also found in the stomach, heart, testis, adipose tissue, muscle, spleen, liver, and kidney.
Cellular localization
- Huntingtin
- Cytoplasm
- Nucleus
- Shuttles between cytoplasm and nucleus in a Ran GTPase-independent manner.
- Huntingtin, myristoylated N-terminal fragment
- Cytoplasmic vesicle
- Autophagosome
Alternative names
Hd, Hdh, Htt, Huntingtin, Huntington disease protein homolog, HD protein homolog