ZFIN is now using GRCz12tu for Genomic Data
Gene
depdc5
- ID
- ZDB-GENE-091204-356
- Name
- DEP domain containing 5, GATOR1 subcomplex subunit
- Symbol
- depdc5 Nomenclature History
- Previous Names
-
- si:dkey-106l3.5
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable GTPase activator activity. Acts upstream of or within several processes, including neuronal action potential propagation; swimming behavior; and thigmotaxis. Predicted to be part of GATOR1 complex. Predicted to be active in lysosomal membrane. Is expressed in central nervous system and notochord. Used to study epilepsy and focal epilepsy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy and familial focal epilepsy with variable foci 1. Orthologous to human DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial focal epilepsy with variable foci 1 | Alliance | Epilepsy, familial focal, with variable foci 1 | 604364 |
| Developmental and epileptic encephalopathy 111 | 620504 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000591 | DEP domain |
| Domain | IPR045838 | DEPDC5, C-terminal |
| Domain | IPR048255 | Vacuolar membrane-associated protein Iml1, N-terminal domain |
| Domain | IPR055213 | IML1, N-terminal double psi beta barrel domain |
| Family | IPR027244 | Vacuolar membrane-associated protein Iml1 |
| Homologous_superfamily | IPR036388 | Winged helix-like DNA-binding domain superfamily |
| Homologous_superfamily | IPR036390 | Winged helix DNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | DEPDC5, C-terminal | DEP domain | IML1, N-terminal double psi beta barrel domain | Vacuolar membrane-associated protein Iml1 | Vacuolar membrane-associated protein Iml1, N-terminal domain | Winged helix DNA-binding domain superfamily | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9QGW7 | InterPro | 1605 | |||||||
| UniProtKB:A0A8M9PTY0 | InterPro | 1594 | |||||||
| UniProtKB:A0A8M9QCD7 | InterPro | 1593 | |||||||
| UniProtKB:E7EXM8 | InterPro | 1603 | |||||||
| UniProtKB:A0A8M9QKY4 | InterPro | 1614 | |||||||
| UniProtKB:A0A8M9QKY7 | InterPro | 1123 | |||||||
| UniProtKB:A0AB32U2M5 | InterPro | 1319 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
depdc5-201
(1)
|
Ensembl | 4,812 nt | ||
| mRNA |
depdc5-202
(1)
|
Ensembl | 796 nt | ||
| mRNA |
depdc5-204
(1)
|
Ensembl | 5,203 nt | ||
| mRNA |
depdc5-205
(1)
|
Ensembl | 446 nt | ||
| ncRNA |
depdc5-002
(1)
|
Ensembl | 515 nt | ||
| ncRNA |
depdc5-004
(1)
|
Ensembl | 581 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers