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huntingtin
Summary
- Gene Symbol
-
- HTT
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Apoptosis
- Cytoplasm
- Cytoplasmic vesicle
- Disease variant
- Endosome
- Intellectual disability
- Myristate
- Neurodegeneration
- Nucleus
- Phosphoprotein
- Reference proteome
- Repeat
- Triplet repeat expansion
- Ubl conjugation
- Proteins
| UniProt | Protein Name |
|---|---|
| P42858 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| establishment of mitotic spindle orientation | ||
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | ||
| apoptotic process | ||
| Golgi organization | ||
| positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity |
GO Hierarchy
biological process
cellular process [inference]
localization [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of signaling [inference]
regulation of localization [inference]
regulation of transport [inference]
regulation of transmembrane transport [inference]
regulation of transmembrane transporter activity [inference]
positive regulation of transmembrane transport [inference]
regulation of monoatomic ion transmembrane transport [inference]
regulation of monoatomic ion transport [inference]
regulation of metal ion transport [inference]
regulation of monoatomic ion transmembrane transport [inference]
positive regulation of monoatomic ion transport [inference]
positive regulation of transport [inference]
positive regulation of biological process [inference]
positive regulation of cellular process [inference]
positive regulation of transport [inference]
regulation of response to stimulus [inference]
regulation of cellular process [inference]
regulation of cell communication [inference]
regulation of cellular metabolic process [inference]
regulation of transmembrane transport [inference]
regulation of transmembrane transporter activity [inference]
positive regulation of transmembrane transport [inference]
regulation of monoatomic ion transmembrane transport [inference]
positive regulation of cellular process [inference]
regulation of cellular component organization [inference]
regulation of molecular function [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| p53 binding | ||
| phosphoprotein phosphatase activity | ||
| protein binding |
|
|
| profilin binding | ||
| kinase binding |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Huntingtin
- Functional Category
-
- E: Amino acid transport and metabolism
- G: Carbohydrate transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
| Gene Ontology |
|---|
| microtubule-based transport |
| InterPro |
|---|
| Armadillo-type fold |
| Huntingtin family |
| Huntingtin, C-terminal HEAT repeats |
| Huntingtin, N-terminal, HEAT repeats 2 |
| Huntingtin |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:12858 | Huntington's disease | |
| DOID:14330 | Parkinson's disease |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101613706 | JACJA07351 | ||
| 101687209 | MUSPF04884 | ||
| 101807378 | FICAL02118 | ||
| 101876950 | MELUD08209 | ||
| 101939389 | CHRPI17263 | ||
| 101966195 | ICTTR15479 | ||
| 102006381 | CHILA21745 | ||
| 102128821 | MACFA33339 | ||
| 102363933 | LATCH12064 | ||
| 102421627 | MYOLU14903 |
