NP_004199.1
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NCBI GenBank Nucleotide #
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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 AIF
NCBI Official Synonym Full Names
apoptosis inducing factor, mitochondria associated 1
NCBI Official Synonym Symbols
AIF; CMT2D; CMTX4; COWCK; DFNX5; NADMR; NAMSD; PDCD8; COXPD6 [Similar Products]
NCBI Protein Information
apoptosis-inducing factor 1, mitochondrial
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 AIFM1
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 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and mental retardation. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]
UniProt Comments for AIFM1
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: EC 1.-.-.-; Oxidoreductase; Apoptosis; Mitochondrial
Chromosomal Location of Human Ortholog: Xq26.1
Cellular Component: cytosol; mitochondrial inner membrane; mitochondrial intermembrane space; mitochondrion; nucleus; perinuclear region of cytoplasm
Molecular Function: DNA binding; electron carrier activity; NAD(P)H oxidase activity; oxidoreductase activity, acting on NADH or NADPH; protein binding; protein dimerization activity
Biological Process: apoptosis; caspase activation; cell redox homeostasis; chromosome condensation; DNA catabolic process; mitochondrial respiratory chain complex I assembly; neuron apoptosis; neuron differentiation; positive regulation of apoptosis; positive regulation of neuron apoptosis; response to toxin
Disease: Cowchock Syndrome
Research Articles on AIFM1
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Products associated with anti-AIFM1 antibody
Pathways associated with anti-AIFM1 antibody
Diseases associated with anti-AIFM1 antibody
Organs/Tissues associated with anti-AIFM1 antibody
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