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FLASH GENE
Symbol AIFM3 contributors: mct - updated : 09-11-2021
HGNC name apoptosis-inducing factor, mitochondrion-associated, 3
HGNC id 26398
Location 22q11.21      Physical location : 21.319.417 - 21.335.649
Synonym name apoptosis-inducing factor like
Synonym symbol(s) AIFL, FLJ30473, FLJ45137
EC.number 1.-.-.-
DNA
TYPE functioning gene
STRUCTURE 16.19 kb     21 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 - 2354 - 598 - 2019 31088422
21 - 2375 - 605 - 2019 31088422
- - 969 - - transcribed abundantly in the brain 2019 31088422
  • lacking the Pyr_redox domain
  • Rieske-type protein, identified in the nucleus and the [2Fe–2S] cluster binding site was essential for nuclear localization
  • may be involved in the embryonic development
  • 20 - 2331 - 604 - 2019 31088422
    21 - 2334 - 605 - 2019 31088422
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen    
    Nervousbrain   highly Homo sapiens
     nerve    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a characteristic Rieske domain, necessary for mitochondrial localization, but a known mitochondrial localization sequence is not contained in this domain
  • a pyridine nucleotide-disulfide oxidoreductase domain showing 35p100 homology to that of apoptosis-inducing factor (AIF)
  • conjugated FlavoP
    HOMOLOGY
    interspecies ortholog to Xenopus Nfrl
    intraspecies
    Homologene
    FAMILY FAD-dependent oxidoreductase family
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    text
  • did not localize to the nucleus
  • basic FUNCTION
  • probable oxidoreductase that acts as a caspase- independent mitochondrial effector of apoptotic cell death
  • inducing apoptosis in a caspase-dependent manner when heterologously expressed
  • great importance of AIFM3 in energy production in nephrogenesis and tubular maturation
  • CRKL, UBASH3A, and AIFM3 were detected in all phases of kidney development which implies their role as renal development control genes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binds to DNA in a sequence-independent manner
    RNA
    small molecule cofactor,
    FAD
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast cancer tissues than in normal tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene AIFM3 is considered a CAKUT candidate gene
    Marker
  • might be a potential biomarker for predicting prognosis in breast cancer
  • Therapy target
    ANIMAL & CELL MODELS