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Details on Person UniProt:P42858 HTT
| Class:Id | ReferenceGeneProduct:56424 |
|---|---|
| _chainChangeLog | chain:1-3142 added on Sat February 7 2015;chain:551-584 for 56424 added on Fri August 9 2019 |
| _displayName | UniProt:P42858 HTT |
| _timestamp | 2025-05-21 21:05:44 |
| chain | chain:1-3142 chain:551-584 |
| checksum | A267509E84D52F0D |
| comment | FUNCTION May play a role in microtubule-mediated transport or vesicle function.FUNCTION Promotes the formation of autophagic vesicles.SUBUNIT Interacts with PFN1 (PubMed:18573880). Interacts through its N-terminus with PRPF40A (PubMed:9700202). Interacts with PQBP1 (PubMed:10332029). Interacts with SETD2 (PubMed:10958656, PubMed:11461154, PubMed:9700202). Interacts with SH3GLB1 (By similarity). Interacts with SYVN (PubMed:17141218). Interacts with TPR; the interaction is inhibited by forms of Huntingtin with expanded polyglutamine stretch (PubMed:15654337). Interacts with ZDHHC13 (via ANK repeats) (PubMed:26198635). Interacts with ZDHHC17 (via ANK repeats) (PubMed:26198635, PubMed:28757145, PubMed:28882895). Interacts with F8A1/F8A2/F8A3 (PubMed:16476778, PubMed:29466333). Found in a complex with F8A1/F8A2/F8A3, HTT and RAB5A; mediates the recruitment of HTT by RAB5A (PubMed:16476778).INTERACTION The mutant Huntingtin protein colocalizes with AKAP8L in the nuclear matrix of Huntington disease neurons. Shuttles between cytoplasm and nucleus in a Ran GTPase-independent manner (PubMed:15654337). Recruits onto early endosomes in a Rab5- and HAP40-dependent fashion (PubMed:16476778).SUBCELLULAR LOCATION 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.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.PTM Cleaved by caspases downstream of the polyglutamine stretch (PubMed:10770929, PubMed:29802276, PubMed:8696339, PubMed:9535906). The resulting N-terminal fragments are cytotoxic and provokes apoptosis (PubMed:10770929).PTM Forms with expanded polyglutamine expansion are specifically ubiquitinated by SYVN1, which promotes their proteasomal degradation.PTM 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.PTM Myristoylated at Gly-551, following proteolytic cleavage at Asp-550.POLYMORPHISM The poly-Gln region of HTT is highly polymorphic (10 to 35 repeats) in the normal population and is expanded to about 36-120 repeats in Huntington disease patients. The repeat length usually increases in successive generations, but also contracts on occasion. The adjacent poly-Pro region is also polymorphic and varies between 7-12 residues. Polyglutamine expansion leads to elevated susceptibility to apopain cleavage and likely result in accelerated neuronal apoptosis (PubMed:8696339).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the huntingtin family.ONLINE INFORMATION Huntingtin entry |
| description | recommendedName: Huntingtin alternativeName: Huntington disease protein shortName: HD protein component recommendedName: Huntingtin, myristoylated N-terminal fragment /component |
| geneName | HTT HD IT15 |
| identifier | P42858 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Apoptosis Cytoplasm Cytoplasmic vesicle Disease variant Endosome Intellectual disability Lipoprotein Myristate Neurodegeneration Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat Triplet repeat expansion Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | HTT |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9002381] ENSEMBL:ENSG00000197386 HTT [Homo sapiens] |
| secondaryIdentifier | HD_HUMAN Q9UQB7 |
| sequenceLength | 3142 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:201605] HTT [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9023590] HTT [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:P42858 HTT (56424)
