Gene
ccdc47
- ID
- ZDB-GENE-040912-15
- Name
- coiled-coil domain containing 47
- Symbol
- ccdc47 Nomenclature History
- Previous Names
-
- zgc:92099
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity; protein folding chaperone; and ribosome binding activity. Predicted to be involved in multi-pass transmembrane protein insertion into ER membrane. Predicted to act upstream of or within endoplasmic reticulum calcium ion homeostasis. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of multi-pass translocon complex. Predicted to be active in endoplasmic reticulum. Orthologous to human CCDC47 (coiled-coil domain containing 47).
- 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
-
- MGC:92099 (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 |
|---|---|---|---|
| Trichohepatoneurodevelopmental syndrome | 618268 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR012879 | PAT complex subunit CCDC47 |
Domain Details Per Protein
| Protein | Length | PAT complex subunit CCDC47 |
|---|---|---|
|
UniProtKB:Q66I12
|
486 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ccdc47-201
(1)
|
Ensembl | 2,461 nt | ||
| mRNA |
ccdc47-202
(1)
|
Ensembl | 3,814 nt |
Interactions and Pathways
No data available
Plasmids
No data available