Gene
surf1
- ID
- ZDB-GENE-041108-2
- Name
- SURF1 cytochrome c oxidase assembly factor
- Symbol
- surf1 Nomenclature History
- Previous Names
-
- im:6898613
- zgc:158646
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Exhibits cytochrome-c oxidase activity. Involved in embryonic organ development and spinal cord motor neuron differentiation. Predicted to localize to mitochondrial inner membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4K and Leigh disease. Orthologous to human SURF1 (SURF1 cytochrome c oxidase assembly factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6898613 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 7 figures from Baden et al., 2007
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 4K | Alliance | Charcot-Marie-Tooth disease, type 4K | 616684 |
| mitochondrial complex IV deficiency nuclear type 1 | Alliance | Mitochondrial complex IV deficiency, nuclear type 1 | 220110 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Surfeit locus 1/4 | Surfeit locus 1/Shy1 |
|---|---|---|---|
|
UniProtKB:A0A8M3B2I7
|
190 | ||
|
UniProtKB:A1L248
|
309 |
Interactions and Pathways
No data available
Plasmids
No data available