Gene
emc1
- ID
- ZDB-GENE-060810-98
- Name
- ER membrane protein complex subunit 1
- Symbol
- emc1 Nomenclature History
- Previous Names
-
- im:7158249 (1)
- si:dkey-7c22.1
- wu:fc76f12
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to localize to ER membrane protein complex. Orthologous to human EMC1 (ER membrane protein complex subunit 1).
- 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:7158249 (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 |
|---|---|---|---|
| cerebellar atrophy, visual impairment, and psychomotor retardation | Alliance | Cerebellar atrophy, visual impairment, and psychomotor retardation | 616875 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR011678 | ER membrane protein complex subunit 1, C-terminal |
| Family | IPR026895 | ER membrane protein complex subunit 1 |
| Homologous_superfamily | IPR011047 | Quinoprotein alcohol dehydrogenase-like superfamily |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
| Repeat | IPR002372 | Pyrrolo-quinoline quinone repeat |
Domain Details Per Protein
| Protein | Length | ER membrane protein complex subunit 1 | ER membrane protein complex subunit 1, C-terminal | Pyrrolo-quinoline quinone repeat | Quinoprotein alcohol dehydrogenase-like superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:E9QG66
|
964 | |||||
|
UniProtKB:A0A8M9Q3P5
|
967 | |||||
|
UniProtKB:A0A8M9PDY1
|
964 | |||||
|
UniProtKB:A0A8M2B912
|
967 |
Interactions and Pathways
No data available
Plasmids
No data available