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AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 [ Homo sapiens (human) ]

Gene ID: 9131, updated on 7-Dec-2014
Official Symbol
AIFM1provided by HGNC
Official Full Name
apoptosis-inducing factor, mitochondrion-associated, 1provided by HGNC
Primary source
HGNC:HGNC:8768
Locus tag
RP3-438D16.2
See related
Ensembl:ENSG00000156709; HPRD:02161; MIM:300169; MIM:310490; Vega:OTTHUMG00000022392
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AIF; CMT2D; CMTX4; COWCK; NADMR; NAMSD; PDCD8; COXPD6
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]
See AIFM1 in Epigenomics, MapViewer
Location:
Xq26.1
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (130129362..130165887, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (129263337..129299861, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene BCL6 corepressor-like 1 Neighboring gene E74-like factor 4 (ets domain transcription factor) Neighboring gene RAB33A, member RAS oncogene family Neighboring gene zinc finger protein 280C

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify mitochondrion-associated apoptosis-inducing factor 1 (AIFM1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
env Apoptosis induced by HIV-1 gp120/gp41 is involved in the translocation of cytochrome c and apoptosis-inducing factor (AIF) from mitochondria to an extra-mitochondrial localization and in the dissipation of the mitochondrial transmembrane potential PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify mitochondrion-associated apoptosis-inducing factor 1 (AIFM1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify mitochondrion-associated apoptosis-inducing factor 1 (AIFM1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify mitochondrion-associated apoptosis-inducing factor 1 (AIFM1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of apoptosis-inducing factor 1 (AIFM1, PDCD8, mitochondrial) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
vpr HIV-1 Vpr induces apoptosis through a caspase-independent mitochondrial pathway controlled by AIF PubMed

Go to the HIV-1, Human Interaction Database

  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
  • Apoptosis Modulation by HSP70, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation by HSP70, organism-specific biosystem
    Apoptosis Modulation by HSP70
  • Ceramide signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Ceramide signaling pathway, organism-specific biosystem
    Ceramide signaling pathway
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC111425

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
FAD binding IEA
Inferred from Electronic Annotation
more info
 
NAD(P)H oxidase activity TAS
Traceable Author Statement
more info
PubMed 
electron carrier activity TAS
Traceable Author Statement
more info
PubMed 
oxidoreductase activity, acting on NAD(P)H IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA catabolic process TAS
Traceable Author Statement
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic DNA fragmentation TAS
Traceable Author Statement
more info
PubMed 
apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell redox homeostasis IEA
Inferred from Electronic Annotation
more info
 
chromosome condensation TAS
Traceable Author Statement
more info
PubMed 
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
regulation of apoptotic DNA fragmentation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial intermembrane space IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
apoptosis-inducing factor 1, mitochondrial
Names
apoptosis-inducing factor 1, mitochondrial
striatal apoptosis-inducing factor
programmed cell death 8 (apoptosis-inducing factor)
Neuropathy, axonal motor-sensory, with deafness and mental retardation
neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013217.1 

    Range
    4948..41472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130846.2NP_001124318.1  apoptosis-inducing factor 1, mitochondrial isoform 4

    See proteins identical to NP_001124318.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in the 5' UTR and coding region, compared to variant 1, resulting in an isoform (4) that is shorter than isoform 1.
    Source sequence(s)
    BC111065, DQ016496
    UniProtKB/Swiss-Prot
    O95831
    Related
    ENSP00000431222, OTTHUMP00000230753, ENST00000460436, OTTHUMT00000058250
    Conserved Domains (2) summary
    pfam07992
    Location:192
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14721
    Location:113243
    AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
  2. NM_001130847.3NP_001124319.1  apoptosis-inducing factor 1, mitochondrial isoform 5 precursor

    See proteins identical to NP_001124319.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate segment which results in an early termination codon, compared to variant 1, and also fits criteria for nonsense-mediated decay (NMD). The resulting isoform (5) is shorter than isoform 1.
    Source sequence(s)
    BC111065, DA624842, DQ016498
    Consensus CDS
    CCDS48167.1
    UniProtKB/Swiss-Prot
    O95831
    Related
    ENSP00000446113, ENST00000535724
    Conserved Domains (2) summary
    pfam07992
    Location:150322
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14962
    Location:1123
    AIF-MLS; Mitochondria Localisation Sequence
  3. NM_004208.3NP_004199.1  apoptosis-inducing factor 1, mitochondrial isoform 1 precursor

    See proteins identical to NP_004199.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC111065, BC139738, DA624842
    Consensus CDS
    CCDS14618.1
    UniProtKB/Swiss-Prot
    O95831
    Related
    ENSP00000287295, OTTHUMP00000024007, ENST00000287295, OTTHUMT00000058247
    Conserved Domains (4) summary
    pfam00070
    Location:302386
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    pfam07992
    Location:150444
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14721
    Location:465595
    AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
    pfam14962
    Location:1123
    AIF-MLS; Mitochondria Localisation Sequence
  4. NM_145812.2NP_665811.1  apoptosis-inducing factor 1, mitochondrial isoform 2 precursor

    See proteins identical to NP_665811.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AK314446, BC111065, DA624842
    Consensus CDS
    CCDS14619.1
    UniProtKB/Swiss-Prot
    O95831
    Related
    ENSP00000315122, OTTHUMP00000024008, ENST00000319908, OTTHUMT00000058248
    Conserved Domains (4) summary
    pfam00070
    Location:298382
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    pfam07992
    Location:146440
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14721
    Location:461591
    AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
    pfam14962
    Location:1119
    AIF-MLS; Mitochondria Localisation Sequence
  5. NM_145813.2NP_665812.1  apoptosis-inducing factor 1, mitochondrial isoform 3

    See proteins identical to NP_665812.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several in-frame exons in the 5' coding region compared to variant 1, resulting in an isoform (3) that is 287 aa shorter than isoform 1.
    Source sequence(s)
    AL049704, BC111065, DA624842
    UniProtKB/Swiss-Prot
    O95831
    Related
    ENSP00000316320, OTTHUMP00000024009, ENST00000346424, OTTHUMT00000058249
    Conserved Domains (3) summary
    pfam00070
    Location:3699
    Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
    pfam07992
    Location:66157
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14721
    Location:178308
    AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    130129362..130165887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    129174949..129211491
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    118659694..118695647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)