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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
apoptosis inducing factor mitochondria associated 1	MIM:310490	Ensembl:ENSG00000156709	HGNC:HGNC:8768	PA162376129	Xq26.1

Gene Categories:

PROTEASE DRUGGABLE GENOME

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
CC	IEA	GO:0048471	perinuclear region of cytoplasm
BP	IEA	GO:0002931	response to ischemia
BP	IMP	GO:0006915	apoptotic process
BP	IDA	GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process
BP	TAS	GO:0030261	chromosome condensation
BP	TAS	GO:0043065	positive regulation of apoptotic process
BP	IEA	GO:0043525	positive regulation of neuron apoptotic process
BP	IEA	GO:0051402	neuron apoptotic process
BP	IEA	GO:0055114	oxidation-reduction process
BP	ISS	GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
BP	IEA	GO:0070301	cellular response to hydrogen peroxide
BP	IEA	GO:0071392	cellular response to estradiol stimulus
BP	IEA	GO:0071732	cellular response to nitric oxide
BP	IEA	GO:0090650	cellular response to oxygen-glucose deprivation
BP	IEA	GO:1902065	response to L-glutamate
BP	IEA	GO:1902510	regulation of apoptotic DNA fragmentation
BP	IEA	GO:1904045	cellular response to aldosterone
MF	IEA	GO:0003677	DNA binding
MF	IPI	GO:0005515	protein binding
MF	TAS	GO:0016174	NAD(P)H oxidase activity
MF	IDA	GO:0016651	oxidoreductase activity, acting on NAD(P)H
MF	IEA	GO:0046983	protein dimerization activity
MF	IEA	GO:0071949	FAD binding

Gene expression in normal tissue: AIFM1

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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
netpath	Pathway_RAGE	RAGE
wikipathways	WP1772	Apoptosis Modulation and Signaling
wikipathways	WP2507	Nanomaterial induced apoptosis
wikipathways	WP384	Apoptosis Modulation by HSP70

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD152	179324-69-7	6
iGMDRD512	nutlin 3	3
iGMDRD474	Avrainvillamide	2
iGMDRD441	TW 37	3
iGMDRD424	Tamatinib	3
iGMDRD105	Triptolide	3

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in AIFM1

SITE

DATATYPES

CLASSFICATION

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