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
- Enables cytochrome-c oxidase activity. Acts upstream of or within embryonic organ development and spinal cord motor neuron differentiation. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4K; Leigh disease; and cytochrome-c oxidase deficiency 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
- 14 figures from 3 publications
- 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