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MIRAGE
tubulin folding cofactor E
Summary
- Gene Symbol
-
- TBCE
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Chaperone
- Cytoskeleton
- Disease variant
- Dwarfism
- Intellectual disability
- Leucine-rich repeat
- Neurodegeneration
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Proteins
| UniProt | Protein Name |
|---|---|
| Q15813 |
|
| A0A2R8Y6Q1 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| microtubule cytoskeleton organization | ||
| microtubule cytoskeleton organization | ||
| protein folding | ||
| tubulin complex assembly | ||
| post-chaperonin tubulin folding pathway |
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoplasm | ||
| microtubule |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| alpha-tubulin binding | ||
| protein-folding chaperone binding |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- tubulin-specific chaperone e
- Functional Category
-
- O: Posttranslational modification, protein turnover, chaperones
- P: Inorganic ion transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| alpha-tubulin binding |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060348 | hypoparathyroidism-retardation-dysmorphism syndrome | |
| DOID:0080722 | Kenny-Caffey syndrome type 1 | |
| DOID:11199 | hypoparathyroidism |
