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    Aifm1 apoptosis inducing factor, mitochondria associated 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 83533, updated on 11-Apr-2024

    Summary

    Symbol
    Aifm1provided by RGD
    Full Name
    apoptosis inducing factor, mitochondria associated 1provided by RGD
    Primary source
    RGD:620817
    See related
    Ensembl:ENSRNOG00000006067 AllianceGenome:RGD:620817
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Aif; Pdcd8
    Summary
    Predicted to enable DNA binding activity; FAD binding activity; and NAD(P)H oxidase H2O2-forming activity. Involved in several processes, including cellular response to lipid; cellular response to nitric oxide; and cellular response to oxygen-glucose deprivation. Located in cytosol; mitochondrion; and nucleus. Biomarker of middle cerebral artery infarction; retinal detachment; retinitis pigmentosa; and transient cerebral ischemia. 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
    Biased expression in Kidney (RPKM 413.4), Adrenal (RPKM 397.7) and 9 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    Xq36
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (132528107..132567237, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (127650223..127689356, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (135304063..135343062, complement)

    Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene BCL6 co-repressor-like 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4, pseudogene 3 Neighboring gene E74 like ETS transcription factor 4 Neighboring gene RAB33A, member RAS oncogene family Neighboring gene zinc finger protein 280C Neighboring gene solute carrier family 25 member 14

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables FAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables FAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables FAD binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    enables NAD(P)H oxidase H2O2-forming activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables NADH dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxidoreductase activity, acting on NAD(P)H ISO
    Inferred from Sequence Orthology
    more info
     
    enables oxidoreductase activity, acting on NAD(P)H ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables poly-ADP-D-ribose binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables poly-ADP-D-ribose binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to aldosterone IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to estradiol stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to hydrogen peroxide IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to nitric oxide IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress ISO
    Inferred from Sequence Orthology
    more info
     
    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 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
     
    involved_in mitochondrial respiratory chain complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitochondrial respiratory chain complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of necroptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of necroptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into mitochondrial intermembrane space ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein import into mitochondrial intermembrane space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within regulation of apoptotic DNA fragmentation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to L-glutamate IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    NOT involved_in response to ischemia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to ischemia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to toxic substance IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    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 1, mitochondrial-like
    apoptosis-inducing factor, mitochondrion-associated 1
    programmed cell death 8 (apoptosis-inducing factor)
    programmed cell death protein 8
    NP_112646.1
    XP_038956025.1
    XP_038956026.1

    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_031356.2NP_112646.1  apoptosis-inducing factor 1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_112646.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000021
      UniProtKB/Swiss-Prot
      Q548E3, Q9JM53
      UniProtKB/TrEMBL
      A6JMQ6, Q924M6
      Related
      ENSRNOP00000008503.3, ENSRNOT00000008503.6
      Conserved Domains (3) summary
      pfam14962
      Location:51124
      AIF-MLS; Mitochondria localization Sequence
      pfam07992
      Location:149461
      Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
      pfam14721
      Location:464592
      AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086039.1 Reference GRCr8

      Range
      132528107..132567237 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039100097.2XP_038956025.1  apoptosis-inducing factor 1, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A0G2K7K2, A6JMQ5, Q924M6
      Related
      ENSRNOP00000074241.1
      Conserved Domains (3) summary
      pfam14962
      Location:46120
      AIF-MLS; Mitochondria localization Sequence
      pfam07992
      Location:145457
      Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
      pfam14721
      Location:460588
      AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term
    2. XM_039100098.2XP_038956026.1  apoptosis-inducing factor 1, mitochondrial isoform X2

      UniProtKB/TrEMBL
      Q924M6
      Conserved Domains (2) summary
      pfam07992
      Location:51363
      Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase
      pfam14721
      Location:366494
      AIF_C; Apoptosis-inducing factor, mitochondrion-associated, C-term