Gene
tbce
- ID
- ZDB-GENE-051030-120
- Name
- tubulin folding cofactor E
- Symbol
- tbce Nomenclature History
- Previous Names
-
- zgc:123075
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have alpha-tubulin binding activity. Predicted to be involved in microtubule cytoskeleton organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in hypoparathyroidism and hypoparathyroidism-retardation-dysmorphism syndrome. Orthologous to human TBCE (tubulin folding cofactor E).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7164987 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hypoparathyroidism-retardation-dysmorphism syndrome | Alliance | Hypoparathyroidism-retardation-dysmorphism syndrome | 241410 |
| Kenny-Caffey syndrome type 1 | Alliance | Kenny-Caffey syndrome, type 1 | 244460 |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000938 | CAP Gly-rich domain |
| Domain | IPR044079 | TBCE, ubiquitin-like (Ubl) domain |
| Homologous_superfamily | IPR029071 | Ubiquitin-like domain superfamily |
| Homologous_superfamily | IPR032675 | Leucine-rich repeat domain superfamily |
| Homologous_superfamily | IPR036859 | CAP Gly-rich domain superfamily |
| Repeat | IPR001611 | Leucine-rich repeat |
| Repeat | IPR003591 | Leucine-rich repeat, typical subtype |
Domain Details Per Protein
| Protein | Length | CAP Gly-rich domain | CAP Gly-rich domain superfamily | Leucine-rich repeat | Leucine-rich repeat domain superfamily | Leucine-rich repeat, typical subtype | TBCE, ubiquitin-like (Ubl) domain | Ubiquitin-like domain superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M6Z390
|
424 | |||||||
|
UniProtKB:Q5U378
|
521 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tbce-201
(1)
|
Ensembl | 3,175 nt | ||
| mRNA |
tbce-203
(1)
|
Ensembl | 2,616 nt | ||
| mRNA |
tbce-204
(1)
|
Ensembl | 806 nt | ||
| mRNA |
tbce-207
(1)
|
Ensembl | 833 nt | ||
| ncRNA |
tbce-003
(1)
|
Ensembl | 896 nt | ||
| ncRNA |
tbce-005
(1)
|
Ensembl | 874 nt | ||
| ncRNA |
tbce-006
(1)
|
Ensembl | 547 nt | ||
| ncRNA |
tbce-007
(1)
|
Ensembl | 852 nt |
Interactions and Pathways
No data available
Plasmids
No data available