Homo sapiens Gene: AIFM1
Summary
InnateDB Gene IDBG-85972.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AIFM1
Gene Name apoptosis-inducing factor, mitochondrion-associated, 1
Synonyms AIF; CMT2D; CMTX4; COWCK; COXPD6; NADMR; NAMSD; PDCD8;
Species Homo sapiens
Ensembl Gene ENSG00000156709
Encoded Proteins
apoptosis-inducing factor, mitochondrion-associated, 1
apoptosis-inducing factor, mitochondrion-associated, 1
apoptosis-inducing factor, mitochondrion-associated, 1
apoptosis-inducing factor, mitochondrion-associated, 1
apoptosis-inducing factor, mitochondrion-associated, 1
apoptosis-inducing factor, mitochondrion-associated, 1
apoptosis-inducing factor, mitochondrion-associated, 1
apoptosis-inducing factor, mitochondrion-associated, 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome X:130129362-130165887
Strand Reverse strand
Band q26.1
Transcripts
ENST00000287295 ENSP00000287295
ENST00000319908 ENSP00000315122
ENST00000346424 ENSP00000316320
ENST00000416073 ENSP00000402535
ENST00000460436 ENSP00000431222
ENST00000527892 ENSP00000435955
ENST00000533719
ENST00000529877 ENSP00000432998
ENST00000535724 ENSP00000446113
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 72 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 72 [view]
Protein-Protein 70 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0009055 electron carrier activity
GO:0016174 NAD(P)H oxidase activity
GO:0016491 oxidoreductase activity
GO:0016651 oxidoreductase activity, acting on NAD(P)H
GO:0046983 protein dimerization activity
GO:0050660 flavin adenine dinucleotide binding
GO:0071949 FAD binding
Biological Process
GO:0006308 DNA catabolic process
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0010942 positive regulation of cell death
GO:0030182 neuron differentiation
GO:0030261 chromosome condensation
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0043065 positive regulation of apoptotic process
GO:0045454 cell redox homeostasis
GO:0051402 neuron apoptotic process
GO:0055114 oxidation-reduction process
GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
GO:1902510 regulation of apoptotic DNA fragmentation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005758 mitochondrial intermembrane space
GO:0005829 cytosol
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Apoptosis pathway
INOH
PID BIOCARTA
Opposing roles of aif in apoptosis and cell survival [Biocarta view]
Role of mitochondria in apoptotic signaling [Biocarta view]
Ceramide signaling pathway [Biocarta view]
PID NCI
Ceramide signaling pathway
Cross-References
SwissProt
TrEMBL E9PMQ8
UniProt Splice Variant
Entrez Gene 9131
UniGene Hs.424932 Hs.56294
RefSeq NM_001130846 NM_001130847 NM_004208 NM_145812 NM_145813
HUGO HGNC:8768
OMIM 300169
CCDS CCDS14618 CCDS14619 CCDS48167
HPRD 02161
IMGT
EMBL AL139234
GenPept
RNA Seq Atlas 9131