| Gene Information | |
|---|---|
| Gene Name | IT15 |
| Organism | Homo sapiens (Human) |
| Gene Length | 3142 |
| Protein Names | Huntingtin (Huntington disease protein) (HD protein) [Cleaved into: Huntingtin, myristoylated N-terminal fragment] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | NA |
| Gene Card | HTT |
| Uniprot ID | P42858 |
| Pfam | PF12372 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| 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. {ECO:0000269|PubMed:16391387}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.002054(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 2LD0 (NMR - ) 2LD2 (NMR - ) 3IO4 (X-ray 3.63A ) 3IO6 (X-ray 3.70A ) 3IOR (X-ray 3.60A ) 3IOT (X-ray 3.50A ) 3IOU (X-ray 3.70A ) 3IOV (X-ray 3.70A ) 3IOW (X-ray 3.50A ) 3LRH (X-ray 2.60A ) 4FE8 (X-ray 3.00A ) 4FEB (X-ray 2.80A ) 4FEC (X-ray 3.00A ) 4FED (X-ray 2.81A ) 4RAV (X-ray 2.50A ) 6EZ8 (EM 4.00A ) 6N8C (NMR - ) 6RMH (EM 9.60A ) 6X9O (EM 2.60A ) 6YEJ (EM 18.20A ) 7DXJ (EM 3.60A ) 7DXK (EM 4.10A ) |
| DBSNP | rs118005095 rs768047421 rs363075 rs35892913 rs1143646 rs3025843 rs34315806 rs3025837 rs3025837 rs363125 rs1143648 rs362331 rs1085307052 rs362272 |
| Subcellular location [CC] | [Huntingtin]: Cytoplasm {ECO:0000269|PubMed:15654337, ECO:0000269|PubMed:16476778, ECO:0000269|PubMed:7647777}. Nucleus {ECO:0000269|PubMed:15654337, ECO:0000269|PubMed:16391387}. Early endosome {ECO:0000269|PubMed:16476778}. Note=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). {ECO:0000269|PubMed:15654337, ECO:0000269|PubMed:16476778}.; [Huntingtin, myristoylated N-terminal fragment]: Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:24459296}. |
| Mouse PG classification | NA |
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