• Gene id: 9131

Gene Summary

• Gene Symbol: AIFM1   Gene   UCSC   Ensembl
• Aliases: AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8, SEMDHL
• Gene name: apoptosis inducing factor mitochondria associated 1
• Alternate names: apoptosis-inducing factor 1, mitochondrial, apoptosis-inducing factor, mitochondrion-associated, 1, auditory neuropathy, X-linked recessive 1, programmed cell death 8 (apoptosis-inducing factor), striatal apoptosis-inducing factor, testicular secretory protein,
• Gene location: Xq26.1 (130165886: 130129361)     Exons: 18     NC_000023.11
• Gene summary(Entrez): 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 a
• OMIM: 300169300614310490

Protein Summary

• Protein general information: O95831  
  • Name: Apoptosis inducing factor 1, mitochondrial (EC 1.6.99. ) (Programmed cell death protein 8)
  • Length: 613  
  • Mass: 66901
  • Tissue specificity: Expressed in all tested tissues (PubMed
• Sequence:

  MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGASGGKIDNSVLVLIVGL
  STVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEGEEVPQDKAPSHVPFLLIGGGTAAFAAARSI
  RARDPGARVLIVSEDPELPYMRPPLSKELWFSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGV
  AVLTGKKVVQLDVRDNMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREV
  KSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREGVKVMPNAIVQSVGVS
  SGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGGFRVNAELQARSNIWVAGDAACFYDIKLGRR
  RVEHHDHAVVSGRLAGENMTGAAKPYWHQSMFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSG
  TGIRSESETESEASEITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHED
  LNEVAKLFNIHED

• Structural information:
  • Interpro: IPR029324  IPR036188  IPR023753  IPR016156  
  • PDB: 1M6I 4BUR 4BV6 4FDC 4LII 5FMH 5FS6 5FS7 5FS8 5FS9 5KVH 5KVI
  • PDBsum: 1M6I 4BUR 4BV6 4FDC 4LII 5FMH 5FS6 5FS7 5FS8 5FS9 5KVH 5KVI
  • DIP: 32975
  • STRING: ENSP00000287295
• Other Databases: GeneCards:  AIFM1  Malacards:  AIFM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071949	FAD binding	IDA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0016651	oxidoreductase activity, acting on NAD(P)H	IDA	molecular function
GO:0016174	NAD(P)H oxidase (H(2)O(2)-forming activity	IDA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0016651	oxidoreductase activity, acting on NAD(P)H	IDA	molecular function
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0033108	mitochondrial respiratory chain complex assembly	IMP	biological process
GO:0045041	protein import into mitochondrial intermembrane space	IMP	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0006915	apoptotic process	IMP	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071949	FAD binding	IEA	molecular function
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA	biological process
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0045041	protein import into mitochondrial intermembrane space	IEA	biological process
GO:0033108	mitochondrial respiratory chain complex assembly	IEA	biological process
GO:0016174	NAD(P)H oxidase (H(2)O(2)-forming activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:1904045	cellular response to aldosterone	IEA	biological process
GO:1902065	response to L-glutamate	IEA	biological process
GO:0090650	cellular response to oxygen-glucose deprivation	IEA	biological process
GO:0071392	cellular response to estradiol stimulus	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0002931	response to ischemia	IEA	biological process
GO:1902510	regulation of apoptotic DNA fragmentation	IEA	biological process
GO:0010942	positive regulation of cell death	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0071732	cellular response to nitric oxide	IEA	biological process
GO:0070301	cellular response to hydrogen peroxide	IEA	biological process
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030261	chromosome condensation	TAS	biological process
GO:0005739	mitochondrion	HDA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0016174	NAD(P)H oxidase (H(2)O(2)-forming activity	TAS	molecular function
GO:0043065	positive regulation of apoptotic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04217	Necroptosis
hsa04210	Apoptosis

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Deafness, X-linked	KEGG:H01209
Cowchock syndrome	KEGG:H02344
Combined oxidative phosphorylation deficiency	KEGG:H00891
Deafness, X-linked	KEGG:H01209
Cowchock syndrome	KEGG:H02344
Dilated cardiomyopathy 1H	PMID:19332114
Alzheimer's disease	PMID:22536549
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)