Gene
rbck1
- ID
- ZDB-GENE-040704-3
- Name
- RanBP-type and C3HC4-type zinc finger containing 1
- Symbol
- rbck1 Nomenclature History
- Previous Names
-
- zgc:91964
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to have ubiquitin binding activity and ubiquitin-protein transferase activity. Involved in embryonic cranial skeleton morphogenesis. Predicted to localize to LUBAC complex. Human ortholog(s) of this gene implicated in glycogen storage disease. Is expressed in pharyngeal arch. Orthologous to human RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Landgraf et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Landgraf et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Polyglucosan body myopathy 1 with or without immunodeficiency | 615895 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017907 | Zinc finger, RING-type, conserved site |
| Domain | IPR000626 | Ubiquitin-like domain |
| Domain | IPR001841 | Zinc finger, RING-type |
| Domain | IPR001876 | Zinc finger, RanBP2-type |
| Domain | IPR044066 | TRIAD supradomain |
| Domain | IPR047557 | Heme-oxidized IRP2 ubiquitin ligase 1, Rcat domain |
| Domain | IPR047558 | Heme-oxidized IRP2 ubiquitin ligase 1, BRcat domain |
| Domain | IPR047559 | Heme-oxidized IRP2 ubiquitin ligase 1, modified RING finger, HC subclass |
| Family | IPR051628 | Linear Ubiquitination-Associated E3 Ligases |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| Homologous_superfamily | IPR029071 | Ubiquitin-like domain superfamily |
| Homologous_superfamily | IPR036443 | Zinc finger, RanBP2-type superfamily |
Domain Details Per Protein
| Protein | Length | Heme-oxidized IRP2 ubiquitin ligase 1, BRcat domain | Heme-oxidized IRP2 ubiquitin ligase 1, modified RING finger, HC subclass | Heme-oxidized IRP2 ubiquitin ligase 1, Rcat domain | Linear Ubiquitination-Associated E3 Ligases | TRIAD supradomain | Ubiquitin-like domain | Ubiquitin-like domain superfamily | Zinc finger, RanBP2-type | Zinc finger, RanBP2-type superfamily | Zinc finger, RING/FYVE/PHD-type | Zinc finger, RING-type | Zinc finger, RING-type, conserved site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q6GMF9
|
515 |
Interactions and Pathways
No data available
Plasmids
No data available