NP_004199.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
26,033 Da
NCBI Official Full Name
apoptosis-inducing factor 1, mitochondrial isoform 1
NCBI Official Synonym Full Names
apoptosis-inducing factor, mitochondrion-associated, 1
NCBI Official Synonym Symbols
AIF; CMT2D; CMTX4; COWCK; NADMR; NAMSD; PDCD8; COXPD6 [Similar Products]
NCBI Protein Information
apoptosis-inducing factor 1, mitochondrial; Neuropathy, axonal motor-sensory, with deafness and mental retardation; neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome); programmed cell death 8 (apoptosis-inducing factor); striatal apoptosis-inducing factor
UniProt Protein Name
Apoptosis-inducing factor 1, mitochondrial
UniProt Synonym Protein Names
Programmed cell death protein 8
UniProt Synonym Gene Names
UniProt Entry Name
AIFM1_HUMAN
NCBI Summary for AIF
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, which results in a severe mitochondrial encephalomyopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, May 2010]
UniProt Comments for AIF
PDCD8: Probable oxidoreductase that has a dual role in controlling cellular life and death; during apoptosis, it is translocated from the mitochondria to the nucleus to function as a proapoptotic factor in a caspase-independent pathway, while in normal mitochondria, it functions as an antiapoptotic factor via its oxidoreductase activity. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e., caspase-independent fragmentation of chromosomal DNA. Interacts with EIF3G,and thereby inhibits the EIF3 machinery and protein synthesis, and activates casapse-7 to amplify apoptosis. Plays a critical role in caspase- independent, pyknotic cell death in hydrogen peroxide-exposed cells. Binds to DNA in a sequence-independent manner. Interacts with XIAP/BIRC4. Interacts (via N-terminus) with EIF3G (via C-terminus). Belongs to the FAD-dependent oxidoreductase family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Mitochondrial; Apoptosis; EC 1.-.-.-; Oxidoreductase
Chromosomal Location of Human Ortholog: Xq26.1
Cellular Component: mitochondrion; perinuclear region of cytoplasm; mitochondrial inner membrane; mitochondrial intermembrane space; nucleus; cytosol
Molecular Function: protein dimerization activity; protein binding; oxidoreductase activity, acting on NADH or NADPH; electron carrier activity; DNA binding; NAD(P)H oxidase activity
Biological Process: chromosome condensation; caspase activation; neuron differentiation; mitochondrial respiratory chain complex I assembly; neuron apoptosis; cell redox homeostasis; apoptosis; positive regulation of apoptosis; DNA fragmentation during apoptosis; DNA catabolic process
Disease: Cowchock Syndrome
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Pathways associated with AIF elisa kit
Diseases associated with AIF elisa kit
Organs/Tissues associated with AIF elisa kit
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