Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9131
Gene name	Apoptosis inducing factor mitochondria associated 1
Gene symbol	AIFM1
Synonyms (NCBI Gene)	AIFAUNX1CMT2DCMTX4COWCKCOXPD6DFNX5NADMRNAMSDPDCD8SEMDHL
Chromosome	X
Chromosome location	Xq26.1
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 a

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020612	hsa-miR-155-5p	Proteomics	18668040
MIRT028978	hsa-miR-26b-5p	Microarray	19088304
MIRT047896	hsa-miR-30c-5p	CLASH	23622248
MIRT042266	hsa-miR-484	CLASH	23622248
MIRT036812	hsa-miR-877-3p	CLASH	23622248
MIRT774340	hsa-miR-4436b-5p	CLIP-seq
MIRT774341	hsa-miR-4776-3p	CLIP-seq
MIRT774342	hsa-miR-629	CLIP-seq

Show/Hide all (56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002931	Process	Response to ischemia	IEA
GO:0003677	Function	DNA binding	IDA	27178839
GO:0003677	Function	DNA binding	IEA
GO:0003954	Function	NADH dehydrogenase activity	IEA
GO:0005515	Function	Protein binding	IPI	16713569, 17094969, 21364629, 21715506, 22371500, 26004228, 33961781
GO:0005634	Component	Nucleus	IDA	23217327
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005634	Component	Nucleus	TAS	9989411
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9989411
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS	18309324
GO:0005758	Component	Mitochondrial intermembrane space	IDA	15775970, 26004228
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IMP	20111043
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0006915	Process	Apoptotic process	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IMP	23217327
GO:0009636	Process	Response to toxic substance	IEA
GO:0016020	Component	Membrane	IEA
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IBA
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IDA	27178839
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	TAS	18309324
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016651	Function	Oxidoreductase activity, acting on NAD(P)H	IDA	23217327, 27178839
GO:0030182	Process	Neuron differentiation	IDA	20111043
GO:0033108	Process	Mitochondrial respiratory chain complex assembly	IMP	26004228
GO:0043065	Process	Positive regulation of apoptotic process	IDA	17094969
GO:0043065	Process	Positive regulation of apoptotic process	TAS	18309324
GO:0043068	Process	Positive regulation of programmed cell death	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0045041	Process	Protein import into mitochondrial intermembrane space	IMP	26004228
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0060545	Process	Positive regulation of necroptotic process	ISS
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071732	Process	Cellular response to nitric oxide	IEA
GO:0071949	Function	FAD binding	IBA
GO:0071949	Function	FAD binding	IDA	27178839
GO:0072572	Function	Poly-ADP-D-ribose binding	ISS
GO:0160203	Process	Mitochondrial disulfide relay system	IBA
GO:0160203	Process	Mitochondrial disulfide relay system	IMP	20111043
GO:0160203	Process	Mitochondrial disulfide relay system	TAS	35994922
GO:1902065	Process	Response to L-glutamate	IEA
GO:1904045	Process	Cellular response to aldosterone	IEA

MIM	HGNC	e!Ensembl
300169	8768	ENSG00000156709

O95831

Protein name

Apoptosis-inducing factor 1, mitochondrial (EC 1.6.99.-) (Programmed cell death protein 8)

Protein function

Functions both as NADH oxidoreductase and as regulator of apoptosis (PubMed:17094969, PubMed:20362274, PubMed:23217327, PubMed:33168626). In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytoso

PDB

1M6I , 4BUR , 4BV6 , 4FDC , 4LII , 5FMH , 5FS6 , 5FS7 , 5FS8 , 5FS9 , 5KVH , 5KVI , 8D3E , 8D3G , 8D3H , 8D3I , 8D3J , 8D3K , 8D3N , 8D3O , 8VGY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00070	Pyr_redox	302 → 386		Domain
PF14721	AIF_C	465 → 594	Apoptosis-inducing factor, mitochondrion-associated, C-term	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tested tissues (PubMed:16644725). Detected in muscle and skin fibroblasts (at protein level) (PubMed:23217327). Expressed in osteoblasts (at protein level) (PubMed:28842795). {ECO:0000269|PubMed:16644725, ECO:0000269|P

Sequence

MFRCGGLAAGALKQKLVPLVRTVCVRSPRQRNRLPGNLFQRWHVPLELQMTRQMASSGAS
GGKIDNSVLVLIVGLSTVGAGAYAYKTMKEDEKRYNERISGLGLTPEQKQKKAALSASEG
EEVPQDKAPSHVPFLLIGGGTAAFAAARSIRARDPGARVLIVSEDPELPYMRPPLSKELW
FSDDPNVTKTLRFKQWNGKERSIYFQPPSFYVSAQDLPHIENGGVAVLTGKKVVQLDVRD
NMVKLNDGSQITYEKCLIATGGTPRSLSAIDRAGAEVKSRTTLFRKIGDFRSLEKISREV
KSITIIGGGFLGSELACALGRKARALGTEVIQLFPEKGNMGKILPEYLSNWTMEKVRREG
VKVMPNAIVQSVGVSSGKLLIKLKDGRKVETDHIVAAVGLEPNVELAKTGGLEIDSDFGG
FRVNAELQARSNIWVAGDAACFYDIKLGRRRVEHHDHAVVSGRLAGENMTGAAKPYWHQS
MFWSDLGPDVGYEAIGLVDSSLPTVGVFAKATAQDNPKSATEQSGTGIRSESETESEASE
ITIPPSTPAVPQAPVQGEDYGKGVIFYLRDKVVVGIVLWNIFNRMPIARKIIKDGEQHED
LNEVAKLFNIHED

Sequence length

613

Interactions

View interactions

	KEGG
	Apoptosis Necroptosis

924

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AIFM1-related disorder	Likely pathogenic; Pathogenic	rs724160020	RCV003895033
Auditory neuropathy	Likely pathogenic	rs2124648387, rs2523110174, rs2523126527, rs2523110237	RCV003484465 RCV003484483 RCV003484488 RCV003484491
Auditory neuropathy spectrum disorder	Likely pathogenic; Pathogenic	rs2523131440, rs2523104459	RCV003984981 RCV003984982
Charcot-Marie-Tooth disease X-linked recessive 4	Likely pathogenic; Pathogenic	rs2124656989, rs1057518895, rs1603224817, rs1603227409	RCV002051593 RCV000789722 RCV000907854 RCV000907858
Charcot-Marie-Tooth Neuropathy X	Likely pathogenic; Pathogenic	rs724160022, rs724160021, rs724160020, rs2523117559, rs1057518895	RCV002516010 RCV003764900 RCV001383393 RCV003790474 RCV001385157
Combined oxidative phosphorylation deficiency	Likely pathogenic; Pathogenic	rs724160022, rs724160021, rs724160020, rs2523117559, rs1057518895	RCV002516010 RCV003764900 RCV001383393 RCV003790474 RCV001385157
Deafness, X-linked 5	Likely pathogenic; Pathogenic	rs2523097758, rs2523099491, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs863225431, rs863225432	RCV003128444 RCV003128445 RCV000149868 RCV000149866 RCV000149869 RCV000149865 RCV000149864 RCV000149870 RCV000149861 RCV000149859 RCV000149858 RCV000149857 RCV000202363 RCV000202359
Distal muscle weakness	Likely pathogenic; Pathogenic	rs1057518895	RCV000415225
Ear malformation	Likely pathogenic; Pathogenic	rs724160020	RCV001814071
Foot dorsiflexor weakness	Likely pathogenic; Pathogenic	rs1057518895	RCV000415225
Pes planus	Likely pathogenic; Pathogenic	rs1057518895	RCV000415225
Sensorineural hearing loss disorder	Likely pathogenic; Pathogenic	rs1057518895	RCV000415225
Severe X-linked mitochondrial encephalomyopathy	Pathogenic; Likely pathogenic	rs2523119113, rs724160021, rs724160020, rs2030323020, rs387906500, rs1057516211, rs1603223152	RCV002282609 RCV003467209 RCV003467208 RCV003152986 RCV000012302 RCV000408758 RCV000907852
Spondyloepimetaphyseal dysplasia, Bieganski type	Likely pathogenic; Pathogenic	rs2124656997, rs2523131307, rs1202786652, rs377527583, rs1603225182	RCV001788993 RCV002790045 RCV000856716 RCV000856718 RCV000856719
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs724160021	RCV005888292
Tip-toe gait	Likely pathogenic	rs2124644144	RCV001823087

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
3-hydroxyisobutyryl-CoA hydrolase deficiency	Uncertain significance	rs2523119356	RCV003233008
AIFM1-related hypomyelination with spondylometaphyseal dysplasia	Conflicting classifications of pathogenicity	rs1569418673	RCV000735220
Autism	Uncertain significance	rs1603230120	RCV004698517
Charcot-Marie-Tooth disease	Benign; Likely benign; Uncertain significance	rs12014115, rs12007545, rs143792929, rs141324245, rs73556209, rs781350745, rs373609902, rs191297808, rs1139851, rs1057517852, rs886703882, rs753119555, rs148690239, rs1175521163, rs768118991 View all (3 more)	RCV001173142 RCV001173141 RCV001173133 RCV001173140 RCV001173139 RCV001173134 RCV001173138 RCV001173143 RCV001173144 RCV001172830 RCV001172831 RCV001173130 RCV001173131 RCV001172829 RCV001173135 RCV001173129 RCV001173132 RCV001173137
Familial cancer of breast	Likely benign	rs749868550	RCV005908892
Gastric cancer	Benign; Likely benign	rs150821143	RCV005900799
Intellectual disability	Conflicting classifications of pathogenicity	rs200114054	RCV001004056
Leukodystrophy	Conflicting classifications of pathogenicity	rs761953453	RCV000414973
Nonpapillary renal cell carcinoma	Uncertain significance	rs2523145903	RCV005931843
Peripheral neuropathy	Uncertain significance	rs2030801273	RCV002569457
Prostate cancer	Uncertain significance	rs193920813	RCV000149347

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Mitochondrial Diseases	Associate	34336119

AIFM1 (apoptosis inducing factor mitochondria associated 1)