AIFM1: Polycystic Ovarian Syndrome Database

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AIFM1

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

AIFM1

Aliases

AIF, AUNX1, CMT2D, CMTX4, COWCK, COXPD6, DFNX5, NADMR, NAMSD, PDCD8, SEMDHL

Entrez Gene ID

9131

Gene Name

Apoptosis inducing factor mitochondria associated 1

Chromosomal Location

Xq26.1

HGNC ID

HGNC:8768

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]

RefSeq DNA

NG_013217.1

RefSeq mRNA

NM_004208.4, NR_132647.1, NM_145812.2, NM_001130846.3, NM_001130847.3

e!Ensembl

Gene	ENSG00000156709
Transcript	ENST00000460436, ENST00000416073, ENST00000527892, ENST00000346424, ENST00000319908, ENST00000287295, ENST00000529877, ENST00000535724
Protein	ENSP00000431222, ENSP00000402535, ENSP00000435955, ENSP00000316320, ENSP00000315122, ENSP00000287295, ENSP00000432998, ENSP00000446113

Gene Ontology (GO)

Show/Hide all(11 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006915	Biological process	Apoptotic process	IMP	23217327
GO:0006919	Biological process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	17094969
GO:0030261	Biological process	Chromosome condensation	TAS	18309324
GO:0043065	Biological process	Positive regulation of apoptotic process	TAS	18309324
GO:0005634	Cellular component	Nucleus	IDA	23217327
GO:0005739	Cellular component	Mitochondrion	HDA	20833797
GO:0005743	Cellular component	Mitochondrial inner membrane	TAS	18309324
GO:0005758	Cellular component	Mitochondrial intermembrane space	IDA	15775970
GO:0005515	Molecular function	Protein binding	IPI	16713569, 17094969, 21364629, 22371500
GO:0016174	Molecular function	NAD(P)H oxidase activity	TAS	18309324
GO:0016651	Molecular function	Oxidoreductase activity, acting on NAD(P)H	IDA	23217327

Protein Information

Protein Name

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 Li 4

Function

Refseq Proteins

NP_004199.1, , NP_665811.1, NP_001124318.2, NP_001124319.1

UniProt

O95831

PDB

1M6I, 4BUR, 4BV6, 4FDC, 4LII, 5FMH, 5FS6, 5FS7, 5FS8, 5FS9, 5KVH, 5KVI

Pathways
	KEGG
	Apoptosis Necroptosis

Interactions

STRING	MINT	IntAct
ENSP00000287295	O95831	O95831

View interactions

Associated Diseases

Show/Hide all(6 )

Disease group	Disease Name	References
Cardiovascular Diseases
	Cardiovascular Abnormalities	25583628, 22019070
	Cardiomyopathy	19332114
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	Frontometaphyseal dysplasia	27102849
	Charcot-Marie-Tooth Disease	23217327
Endocrine System Diseases
Endocrine System Diseases	PCOS	29439093
Neoplasms
Neoplasms	Skin Cancer	26304929
Nervous System Diseases
	Neuropathy	28888069, 25986071, 26158520
	Childhood Ataxia with Central Nervous System Hypomyelinization	28842795
	MELAS Syndrome	28299359, 20362274
	Spinocerebellar ataxia	28967629
	Encephalopathies	26173962, 21410200
Psychiatric/Brain disorders
	Alzheimer Disease	29186589
	Neurodevelopmental Disorders	27178839
	Cognition Disorders	26075220

References

Show/Hide all(1)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
29439093		PCOS, Apoptosis		Rotterdam Criteria	Direct	3 PCOS patients and 3 non- PCOS patients	LGCs from PCOS cells treated with Cb2 present more significant changes at the transcriptomiclevel than non-PCOS cells. To validate whether there were significant differences between Cb2-treated and -untreated samples, seven key genes were selected by GSEA analysis, The RT-qPCR results for all validated genes showed the same trend as found in the microarray experiment, confirming the microarray data. In addition, most of the changes were significant (P value <0.05).