Gene
tbc1d4
- ID
- ZDB-GENE-030131-9881
- Name
- TBC1 domain family, member 4
- Symbol
- tbc1d4 Nomenclature History
- Previous Names
-
- cb53 (1)
- sb:cb53
- si:ch211-222g23.4
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable GTPase activator activity. Predicted to be involved in vesicle-mediated transport. Predicted to be active in Golgi apparatus and cytosol. Is expressed in myotome; pancreatic bud; pronephric duct; and segmental plate. Human ortholog(s) of this gene implicated in acanthosis nigricans. Orthologous to human TBC1D4 (TBC1 domain family member 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Thisse et al., 2001
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb53 (5 images)
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 |
|---|---|---|---|
| {Diabetes mellitus, noninsulin-dependent, 5} | 616087 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000195 | Rab-GAP-TBC domain |
| Domain | IPR006020 | PTB/PI domain |
| Domain | IPR021785 | Domain of unknown function DUF3350 |
| Family | IPR050302 | Rab GTPase-activating TBC domain-containing protein |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR035969 | Rab-GAP-TBC domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Domain of unknown function DUF3350 | PH-like domain superfamily | PTB/PI domain | Rab-GAP-TBC domain | Rab-GAP-TBC domain superfamily | Rab GTPase-activating TBC domain-containing protein |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3B5R8 | InterPro | 1195 | ||||||
| UniProtKB:A0A8M2BF73 | InterPro | 1247 | ||||||
| UniProtKB:A0A8M2BF88 | InterPro | 1246 | ||||||
| UniProtKB:A0A8M9QG34 | InterPro | 514 | ||||||
| UniProtKB:A0A8M2BF77 | InterPro | 1196 | ||||||
| UniProtKB:A0A8M1RM25 | InterPro | 1246 | ||||||
| UniProtKB:A0AB32TXS0 | InterPro | 1245 | ||||||
| UniProtKB:A0AB32TYN3 | InterPro | 513 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tbc1d4-201
(1)
|
Ensembl | 4,019 nt | ||
| mRNA |
tbc1d4-202
(1)
|
Ensembl | 756 nt | ||
| mRNA |
tbc1d4-203
(1)
|
Ensembl | 3,186 nt | ||
| mRNA |
tbc1d4-204
(1)
|
Ensembl | 3,081 nt | ||
| mRNA |
tbc1d4-205
(1)
|
Ensembl | 877 nt |
Interactions and Pathways
No data available
Plasmids
No data available