Gene
cox5aa
- ID
- ZDB-GENE-050522-133
- Name
- cytochrome c oxidase subunit 5Aa
- Symbol
- cox5aa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 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 part of mitochondrial respiratory chain complex IV. Is expressed in several structures, including adaxial cell; alar plate midbrain region; immature eye; musculature system; and nervous system. Used to study ciliopathy and visceral heterotaxy. Human ortholog(s) of this gene implicated in cytochrome-c oxidase deficiency disease. Orthologous to human COX5A (cytochrome c oxidase subunit 5A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb739 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
mitochondrial complex IV deficiency nuclear type 20 | Alliance | Mitochondrial complex IV deficiency, nuclear type 20 | 619064 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
visceral heterotaxy | WT + MO1-cox5aa | standard conditions | Burkhalter et al., 2019 |
ciliopathy | WT + MO1-cox5aa | standard conditions | Burkhalter et al., 2019 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Cytochrome c oxidase, subunit Va/VI | Cytochrome c oxidase, subunit Va/VI superfamily |
---|---|---|---|
UniProtKB:Q4VBU7
|
141 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cox5aa-201
(1)
|
Ensembl | 690 nt | ||
mRNA |
cox5aa-202
(1)
|
Ensembl | 457 nt |
Interactions and Pathways
No data available
Plasmids
No data available