Gene
aifm1
- ID
- ZDB-GENE-030826-11
- Name
- apoptosis inducing factor mitochondrion associated 1
- Symbol
- aifm1 Nomenclature History
- Previous Names
-
- AIF
- pdcd8
- zgc:91994
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have flavin adenine dinucleotide binding activity; oxidoreductase activity; and protein dimerization activity. Predicted to be involved in oxidation-reduction process. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease X-linked recessive 4; X-linked deafness 5; and combined oxidative phosphorylation deficiency 6. Is expressed in several structures, including alar plate midbrain region; digestive system; hatching gland; musculature system; and polster. Orthologous to human AIFM1 (apoptosis inducing factor mitochondria associated 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7157541 (11 images)
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 |
|---|---|---|---|
| Charcot-Marie-Tooth disease X-linked recessive 4 | Alliance | Cowchock syndrome | 310490 |
| combined oxidative phosphorylation deficiency 6 | Alliance | Combined oxidative phosphorylation deficiency 6 | 300816 |
| X-linked deafness 5 | Alliance | Deafness, X-linked 5 | 300614 |
| Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | 300232 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR023753 | FAD/NAD(P)-binding domain |
| Domain | IPR029324 | Mitochondrial apoptosis-inducing factor, C-terminal domain |
| Domain | IPR032773 | Protein MGARP, N-terminal |
| Family | IPR050446 | FAD-dependent Oxidoreductases and Apoptosis Regulators |
| Homologous_superfamily | IPR016156 | FAD/NAD-linked reductase, dimerisation domain superfamily |
| Homologous_superfamily | IPR036188 | FAD/NAD(P)-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | FAD-dependent Oxidoreductases and Apoptosis Regulators | FAD/NAD-linked reductase, dimerisation domain superfamily | FAD/NAD(P)-binding domain | FAD/NAD(P)-binding domain superfamily | Mitochondrial apoptosis-inducing factor, C-terminal domain | Protein MGARP, N-terminal |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BCB6
|
748 | ||||||
|
UniProtKB:Q5XFY2
|
613 | ||||||
|
UniProtKB:A0A8M3AS24
|
621 | ||||||
|
UniProtKB:A0A8M2BCF4
|
740 |
Interactions and Pathways
No data available
Plasmids
No data available