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AIFM1 apoptosis inducing factor mitochondria associated 1 [ Homo sapiens (human) ]

Gene ID: 9131, updated on 12-Aug-2018

Summary

Official Symbol
AIFM1provided by HGNC
Official Full Name
apoptosis inducing factor mitochondria associated 1provided by HGNC
Primary source
HGNC:HGNC:8768
See related
Ensembl:ENSG00000156709 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; DFNX5; 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 (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]
Expression
Broad expression in kidney (RPKM 48.3), heart (RPKM 22.2) and 24 other tissues See more
Orthologs

Genomic context

See AIFM1 in Genome Data Viewer
Location:
Xq26.1
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 ETS transcription factor 4 Neighboring gene RAB33A, member RAS oncogene family Neighboring gene zinc finger protein 280C Neighboring gene RNA, U6 small nuclear 1130, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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
Vif vif HIV-1 Vif interacts with AIFM1 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

Pathways from BioSystems

  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • 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
  • Nanomaterial induced apoptosis, organism-specific biosystem (from WikiPathways)
    Nanomaterial induced apoptosis, organism-specific biosystemApotosis caused by nanomaterials, such as single-walled carbon nanohorns, titanium oxide, and polystyrene nanoparticles, may be induced through lysosomal impairment. For example, PAMAMs have been fou...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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
activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to aldosterone IEA
Inferred from Electronic Annotation
more info
 
cellular response to estradiol stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
cellular response to nitric oxide IEA
Inferred from Electronic Annotation
more info
 
cellular response to oxygen-glucose deprivation 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
 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
positive regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic DNA fragmentation IEA
Inferred from Electronic Annotation
more info
 
response to L-glutamate IEA
Inferred from Electronic Annotation
more info
 
response to ischemia 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 
mitochondrion HDA 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
 

General protein information

Preferred Names
apoptosis-inducing factor 1, mitochondrial
Names
apoptosis-inducing factor, mitochondrion-associated, 1
programmed cell death 8 (apoptosis-inducing factor)
striatal apoptosis-inducing factor
testicular secretory protein Li 4
NP_001124318.2
NP_001124319.1
NP_004199.1
NP_665811.1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001130846.3NP_001124318.2  apoptosis-inducing factor 1, mitochondrial isoform AIFsh

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several 5' exons but contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (AIFsh, also known as AIFshort) is shorter at the N-terminus, compared to isoform AIF. This variant can initiate translation at alternative start codons according to protein N-terminal sequencing and in vitro translation studies in PMID:16365034. The 5'-most start codon is represented in this RefSeq.
    Source sequence(s)
    AI521711, DQ016496
    Consensus CDS
    CCDS48166.2
    UniProtKB/Swiss-Prot
    O95831
    UniProtKB/TrEMBL
    E9PMA0
    Related
    ENSP00000431222.1, OTTHUMP00000230753, ENST00000460436.6, OTTHUMT00000058250
    Conserved Domains (2) summary
    pfam14721
    Location:126254
    AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
    cl26177
    Location:1123
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
  2. NM_001130847.3NP_001124319.1  apoptosis-inducing factor 1, mitochondrial isoform AIFsh2 precursor

    See identical proteins and their annotated locations for NP_001124319.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an additional internal exon, which results in a distinct 3' coding region and differences in the 3' UTR, compared to variant 1. The encoded isoform (AIFsh2, also known as AIFshort2) has a distinct C-terminus and is shorter than isoform AIF.
    Source sequence(s)
    BC111065, DA624842, DQ016498
    Consensus CDS
    CCDS48167.1
    UniProtKB/Swiss-Prot
    O95831
    Related
    ENSP00000446113.2, ENST00000535724.5
    Conserved Domains (1) summary
    pfam07992
    Location:150319
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
  3. NM_004208.3NP_004199.1  apoptosis-inducing factor 1, mitochondrial isoform AIF precursor

    See identical proteins and their annotated locations for NP_004199.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (AIF).
    Source sequence(s)
    BC111065, BC139738, DA624842
    Consensus CDS
    CCDS14618.1
    UniProtKB/Swiss-Prot
    O95831
    Related
    ENSP00000287295.3, OTTHUMP00000024007, ENST00000287295.7, OTTHUMT00000058247
    Conserved Domains (3) summary
    pfam07992
    Location:150462
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14721
    Location:465593
    AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
    pfam14962
    Location:52133
    AIF-MLS; Mitochondria localization Sequence
  4. NM_145812.2NP_665811.1  apoptosis-inducing factor 1, mitochondrial isoform AIF-exB precursor

    See identical proteins and their annotated locations for NP_665811.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon but contains a different in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (AIF-exB) that is shorter than isoform AIF.
    Source sequence(s)
    AK314446, BC111065, DA624842
    Consensus CDS
    CCDS14619.1
    UniProtKB/Swiss-Prot
    O95831
    Related
    ENSP00000315122.3, OTTHUMP00000024008, ENST00000319908.7, OTTHUMT00000058248
    Conserved Domains (3) summary
    pfam07992
    Location:146458
    Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    pfam14721
    Location:461589
    AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
    pfam14962
    Location:47129
    AIF-MLS; Mitochondria localization Sequence

RNA

  1. NR_132647.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI521711, DA624842, DQ016500
    Related
    ENST00000527892.5, OTTHUMT00000385802

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_145813.2: Suppressed sequence

    Description
    NM_145813.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
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