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

    Gene ID: 9131, updated on 5-May-2024

    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; AllianceGenome:HGNC:8768
    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; AUNX1; CMT2D; CMTX4; COWCK; DFNX5; NADMR; NAMSD; PDCD8; COXPD6; SEMDHL
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AIFM1 in Genome Data Viewer
    Location:
    Xq26.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (130129362..130165841, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (128448167..128484647, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (129263337..129299815, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene BCL6 corepressor like 1 Neighboring gene uncharacterized LOC124905216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:129159157-129159656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20988 Neighboring gene Sharpr-MPRA regulatory region 15346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20989 Neighboring gene E74 like ETS transcription factor 4 Neighboring gene Sharpr-MPRA regulatory region 9263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20995 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:129255011-129255220 Neighboring gene RAB33A, member RAS oncogene family Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:129280263-129281462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:129305519-129306473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29941 Neighboring gene zinc finger protein 280C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20998 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:129413936-129414929 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:129414930-129415922 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC111425

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables FAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables FAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables NAD(P)H oxidase H2O2-forming activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables NAD(P)H oxidase H2O2-forming activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables NAD(P)H oxidase H2O2-forming activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables NADH dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidoreductase activity, acting on NAD(P)H IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables poly-ADP-D-ribose binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to aldosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to estradiol stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to nitric oxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromosome condensation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitochondrial respiratory chain complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial respiratory chain complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of necroptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein import into mitochondrial intermembrane space IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of apoptotic DNA fragmentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to L-glutamate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in 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
    auditory neuropathy, X-linked recessive 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)

    NEW Try the new Transcript table

    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_013217.2 RefSeqGene

      Range
      5000..41479
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130846.4NP_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/TrEMBL
      A0A140VK04, E9PMA0
      Related
      ENSP00000431222.1, ENST00000460436.6
      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_001130847.4NP_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, ENST00000535724.6
      Conserved Domains (1) summary
      pfam07992
      Location:150319
      Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
    3. NM_004208.4NP_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
      A4QPB4, B1ALN1, B2RB08, D3DTE9, E9PRR0, O95831, Q1L6K4, Q1L6K6, Q2QKE4, Q5JUZ7, Q6I9X6, Q9Y3I3, Q9Y3I4
      UniProtKB/TrEMBL
      A0A6Q8PFM5, A0A6Q8PG15
      Related
      ENSP00000287295.3, ENST00000287295.8
      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_145812.3NP_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/TrEMBL
      A0A6Q8PFM5, A0A6Q8PG15
      Related
      ENSP00000502184.1, ENST00000676229.1
      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_132647.2 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      130129362..130165841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      128448167..128484647 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.