AIFM1
Summary: This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:310490 Ensembl IDEnsembl:ENSG00000156709 HGNC IDHGNC:HGNC:8768 PHARMGKB IDPA162376129 Map LocationXq26.1 | |||||
GO terms in AIFM1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005634 | nucleus |
| CC | ISS | GO:0005634 | nucleus |
| CC | HDA | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005743 | mitochondrial inner membrane |
| CC | IDA | GO:0005758 | mitochondrial intermembrane space |
| CC | ISS | GO:0005829 | cytosol |
Gene expression in normal tissue: AIFM1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AIFM1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | aifpathway | opposing roles of aif in apoptosis and cell survival |
| biocarta | ceramidepathway | ceramide signaling pathway |
| biocarta | mitochondriapathway | role of mitochondria in apoptotic signaling |
| kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
| kegg | hsa04217 | Necroptosis - Homo sapiens (human) |
| pid | ceramide_pathway | Ceramide signaling pathway |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AIFM1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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