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 enable FAD binding activity and NAD(P)H oxidase H2O2-forming activity. Predicted to be involved in apoptotic process and mitochondrial respiratory chain complex assembly. Predicted to be located in membrane. Predicted to be active in mitochondrion. Is expressed in several structures, including alar plate midbrain region; digestive system; hatching gland; musculature system; and polster. 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. 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