gene 3,251 words KG: ent-gene-6db0dfd2
Contents

AIFM1 Gene

🧬 Gene Info
Gene Symbolent-gene-6db0dfd2
Function- Complex I assembly: Critical for proper assembly and stability of NADH:ubiquinone oxidoreductase (Complex I)
FAD-binding domainResidues 150-400, binds FAD cofactor essential for NADH oxidase activity
DNA-binding domainC-terminal region (residues 400-613) can bind DNA in the nucleus
Proline-rich regionContains SH3-binding motifs for protein interactions
Complex I assemblyCritical for proper assembly and stability of NADH:ubiquinone oxidoreductase (Complex I)
NADH oxidationFunctions as a NADH oxidase using FAD as cofactor, contributing to mitochondrial redox balance
Mitochondrial DNA maintenanceRequired for mitochondrial DNA (mtDNA) transcription and replication
Iron-sulfur cluster biogenesisInvolved in assembly of Fe-S clusters essential for multiple mitochondrial enzymes
Calpain cleavageCa²⁺-dependent calpains cleave AIF at residue 1025, releasing it from the inner membrane
Nuclear translocationCleaved AIF (tAIF, ~57 kDa) translocates to the nucleus in a PARP-1-dependent manner
DNA fragmentationtAIF promotes large-scale DNA fragmentation (50 kb fragments) through chromatin condensation
Caspase-independent cell deathMediates apoptosis even when caspase activity is blocked
Tissue distributionHighest expression in heart, brain, skeletal muscle, and liver
Brain regionsParticularly high in neurons of the hippocampus, cerebral cortex, and basal ganglia
Cellular localizationMitochondrial inner membrane (primarily), with nuclear translocation during apoptosis
KG Connections2 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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