Recombinant Human Apoptosis-inducing factor 1, mitochondrial (AIFM1), Truncated

Uniprot Id

O95831

Target Species

Human

Target Name

AIFM1

Target Full Name

Apoptosis-inducing factor 1, mitochondrial

Target Function

Functions both as NADH oxidoreductase and as regulator of apoptosis. In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA. Binds to DNA in a sequence-independent manner. Interacts with EIF3G, and thereby inhibits the EIF3 machinery and protein synthesis, and activates caspase-7 to amplify apoptosis. Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells. In contrast, participates in normal mitochondrial metabolism. Plays an important role in the regulation of respiratory chain biogenesis by interacting with CHCHD4 and controlling CHCHD4 mitochondrial import.; Has NADH oxidoreductase activity. Does not induce nuclear apoptosis.; Pro-apoptotic isoform.

Target Involvement

Combined oxidative phosphorylation deficiency 6 (COXPD6); Cowchock syndrome (COWCK); Deafness, X-linked, 5 (DFNX5)

Target Subcellular Location

Mitochondrion intermembrane space. Mitochondrion inner membrane. Cytoplasm. Nucleus. Cytoplasm, perinuclear region.; [Isoform 3]: Mitochondrion intermembrane space. Mitochondrion inner membrane.; [Isoform 4]: Mitochondrion. Cytoplasm, cytosol.; [Isoform 5]: Cytoplasm.

Target Protein Families

FAD-dependent oxidoreductase family

Target Tissue Specificity

Expressed in all tested tissues. Detected in muscle and skin fibroblasts (at protein level). Expressed in osteoblasts (at protein level).; [Isoform 3]: Brain specific.; [Isoform 4]: Expressed in all tested tissues except brain.; [Isoform 5]: Isoform 5 is

Target Research Area

Apoptosis

Target Synonyms

AIFM1; AIFM1_HUMAN; Apoptosis inducing factor 1, mitochondrial; Apoptosis inducing factor; Apoptosis inducing factor, mitochondrion associated, 1; Apoptosis-inducing factor 1; CMTX4; COWCK; COXPD6; Harlequin; Hq; mAIF; MGC111425; MGC5706; mitochondrial; Neuropathy, axonal motor-sensory, with deafness and mental retardation; neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome); PDCD 8; PDCD8; Programmed cell death 8 (apoptosis inducing factor); Programmed cell death 8; Programmed cell death 8 isoform 1; Programmed cell death 8 isoform 2; Programmed cell death 8 isoform 3; Programmed cell death protein 8; Programmed cell death protein 8 mitochondrial; Programmed cell death protein 8 mitochondrial precursor; Programmed cell death protein 8 mitochondrial precursor; Striatal apoptosis inducing factor

Target Background

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 cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10.