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

    Gene ID: 9131, updated on 5-Nov-2017
    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]
    Orthologs
    Location:
    Xq26.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    • 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

    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
    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

    • 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...
    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 
    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
     
    response to toxic substance 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 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, 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

    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 (3) summary
      pfam07992
      Location:1108
      Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
      pfam14721
      Location:126254
      AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
      cl21454
      Location:147
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      129174949..129211491 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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