AIFM3: Apoptosis-Inducing Factor, Mitochondria-Associated 3
A mitochondrial flavoprotein involved in caspase-independent apoptosis and redox regulation.
Gene Information Card
| Symbol | AIFM3 |
|---|---|
| Full Name | Apoptosis-Inducing Factor, Mitochondria-Associated 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 150209 ncbi.nlm.nih.gov/gene/150209 |
| Ensembl ID | ENSG00000183773 |
| UniProt ID | Q96NN9 |
| OMIM ID | 609478 |
| HGNC ID | 26274 |
| Aliases | AIFM3, AIF-like, AIFL, FLJ21174 |
Description
AIFM3 encodes a mitochondrial flavoprotein that belongs to the apoptosis-inducing factor (AIF) family. It is localized to the mitochondria and can translocate to the nucleus upon apoptotic stimuli, where it participates in caspase-independent cell death. The protein also has oxidoreductase activity and may play a role in redox homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered expression may affect apoptosis and tumor progression. | COSMIC; PMID: 23481259 |
| Hepatocellular Carcinoma | Downregulation associated with poor prognosis. | PMID: 25634227 |
| Neuroblastoma | Potential role in caspase-independent cell death. | UniProt annotation |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Heart | 8.7 | Low |
| Liver | 6.2 | Low |
| Brain | 4.1 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | High expression in embryonic kidney cells |
| HeLa | 7.2 | Moderate expression |
| HepG2 | 5.1 | Low expression |
| SH-SY5Y | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Ala166Val) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.1045G>A (p.Gly349Ser) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.1282C>T (p.Arg428Trp) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003674 - molecular_function | • GO:0005739 - mitochondrion |
| • GO:0006915 - apoptotic process | • GO:0016491 - oxidoreductase activity |
| • GO:0043020 - NAD(P)H oxidase H2O2-forming activity |
Pathways
• Caspase-independent apoptosis (Reactome: R-HSA-169911)
• Apoptotic factor release from mitochondria (KEGG: hsa04210)
Protein Summary
AIFM3 is a 605-amino-acid mitochondrial flavoprotein with an N-terminal mitochondrial localization signal and a C-terminal oxidoreductase domain. It shares structural homology with AIFM1 and AIFM2. Under apoptotic conditions, AIFM3 translocates to the nucleus and induces chromatin condensation and DNA fragmentation in a caspase-independent manner. Its oxidoreductase activity may also contribute to cellular redox balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AIFM3 Knockout HEK293 Cell Line | EDJ-KQ11260 | Human | 150209 | Details Get a Quote |
| AIFM3 Knockout A-549 Cell Line | EDJ-KQ39360 | Human | 150209 | Details Get a Quote |
| AIFM3 Knockout HCT 116 Cell Line | EDJ-KQ39361 | Human | 150209 | Details Get a Quote |
| AIFM3 Knockout HeLa Cell Line | EDJ-KQ58651 | Human | 150209 | Details Get a Quote |
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