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 be located in endoplasmic reticulum and membrane. Predicted to be part of EMC complex. Human ortholog(s) of this gene implicated in cerebellar atrophy, visual impairment, and psychomotor retardation. 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 | Additional Resources | 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 | InterPro | 964 | |||||
| UniProtKB:A0A8M9Q3P5 | InterPro | 967 | |||||
| UniProtKB:A0A8M9PDY1 | InterPro | 964 | |||||
| UniProtKB:A0A8M2B912 | InterPro | 967 |
Interactions and Pathways
No data available
Plasmids
No data available