U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    Aifm1 apoptosis-inducing factor, mitochondrion-associated 1 [ Mus musculus (house mouse) ]

    Gene ID: 26926, updated on 18-May-2023

    Summary

    Official Symbol
    Aifm1provided by MGI
    Official Full Name
    apoptosis-inducing factor, mitochondrion-associated 1provided by MGI
    Primary source
    MGI:MGI:1349419
    See related
    Ensembl:ENSMUSG00000036932 AllianceGenome:MGI:1349419
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Hq; AIF; Pdcd8; AIFsh2
    Summary
    Enables DNA binding activity; FAD binding activity; and NAD(P)H oxidase H2O2-forming activity. Involved in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; mitochondrion organization; and positive regulation of cell death. Acts upstream of or within neuron apoptotic process and regulation of apoptotic DNA fragmentation. Located in cytosol; mitochondrion; and nucleus. Is expressed in several structures, including early embryo; liver; and retina. Used to study mitochondrial complex I deficiency. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease X-linked recessive 4; X-linked deafness 5; and combined oxidative phosphorylation deficiency 6. Orthologous to several human genes including TXNDC12 (thioredoxin domain containing 12). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in placenta adult (RPKM 23.1), liver E18 (RPKM 21.7) and 28 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:
    X A5; X 25.68 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_04 current GRCm39 (GCF_000001635.27) X NC_000086.8 (47563821..47602440, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (48474944..48513563, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:45782874-45783027 Neighboring gene E74-like factor 4 (ets domain transcription factor) Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:45786781-45786934 Neighboring gene RAB33A, member RAS oncogene family Neighboring gene zinc finger protein 280C

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (1) 
    • Targeted (4)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC5706

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables FAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables FAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables FAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables NAD(P)H oxidase H2O2-forming activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables NAD(P)H oxidase H2O2-forming activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables NAD(P)H oxidase H2O2-forming activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables electron-transferring-flavoprotein dehydrogenase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidoreductase activity, acting on NAD(P)H ISO
    Inferred from Sequence Orthology
    more info
     
    enables poly-ADP-D-ribose binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within apoptotic mitochondrial changes TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial respiratory chain complex I assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitochondrial respiratory chain complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mitochondrial respiratory chain complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial respiratory chain complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuron apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of necroptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein import into mitochondrial intermembrane space IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into mitochondrial intermembrane space ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of apoptotic DNA fragmentation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in response to oxidative stress TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial intermembrane space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial intermembrane space TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    apoptosis-inducing factor 1, mitochondrial
    Names
    harlequin
    programmed cell death protein 8
    NP_001277293.1
    NP_036149.1

    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.

    mRNA and Protein(s)

    1. NM_001290364.1NP_001277293.1  apoptosis-inducing factor 1, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001277293.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon and contains an alternate exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA261021, AF100927, AL669901, BY250260
      Consensus CDS
      CCDS72375.1
      UniProtKB/Swiss-Prot
      Q9Z0X1
      UniProtKB/TrEMBL
      B1AU25
      Related
      ENSMUSP00000110595.3, ENSMUST00000114945.9
      Conserved Domains (3) summary
      pfam00070
      Location:297381
      Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
      pfam07992
      Location:145442
      Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
      pfam14721
      Location:460588
      AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
    2. NM_012019.3NP_036149.1  apoptosis-inducing factor 1, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_036149.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA261021, AF100927, AK133764, AL669901
      Consensus CDS
      CCDS30109.1
      UniProtKB/Swiss-Prot
      Q1L6K5, Q9Z0X1
      Related
      ENSMUSP00000041104.8, ENSMUST00000037349.8
      Conserved Domains (4) summary
      pfam00070
      Location:301385
      Pyr_redox; Pyridine nucleotide-disulphide oxidoreductase
      pfam07992
      Location:149446
      Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
      pfam14721
      Location:464592
      AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
      cl00057
      Location:47121
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2023_04

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      47563821..47602440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)