| Gene Symbol |
AIFM1
|
| Entrez Gene |
9131
|
| Alt Symbol |
AIF, CMT2D, CMTX4, COWCK, COXPD6, NADMR, NAMSD, PDCD8
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
apoptosis-inducing factor, mitochondrion-associated, 1
|
| Other Description |
Neuropathy, axonal motor-sensory, with deafness and mental retardation|apoptosis-inducing factor 1, mitochondrial|neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)|programmed cell death 8 (apoptosis-inducing factor)|striatal apoptosis-inducing factor
|
| Swissprots |
Q1L6K6 D3DTE9 O95831 Q6I9X6 Q2QKE4 B1ALN1 B2RB08 Q9Y3I4 Q9Y3I3 Q1L6K4 Q5JUZ7 A4QPB4
|
| Accessions |
CCQ43101 EAX11810 EAX11811 EAX11812 O95831 AF100928 AAD16436 AF131759 AAD20036 AK000775 AK314446 BAG37055 AL049703 CAB41267 AL049704 CAB41268 AY795556 AAV54053 AY795557 AAV54054 BC111065 AAI11066 BC139738 AAI39739 BM807180 CR457379 CAG33660 DA624842 DB119488 DQ016496 AAY84737 DQ016498 AAY84739 DQ016500 AAY84741 NM_001130846 NP_001124318 NM_001130847 NP_001124319 NM_004208 NP_004199 NM_145812 NP_665811 NM_145813 NP_665812
|
| 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. In contrast, functions as an antiapoptotic factor in normal mitochondria via its NADH 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. {ECO:0000269|PubMed:17094969, ECO:0000269|PubMed:19418225, ECO:0000269|PubMed:20362274, ECO:0000269|PubMed:23217327}.
|
| Subcellular Location |
Isoform 5: Cytoplasm {ECO:0000269|PubMed:16365034}.
|
| Tissue Specificity |
Detected in muscle and skin fibroblasts (at protein level). Isoform 5 is frequently down-regulated in human cancers. {ECO:0000269|PubMed:16365034, ECO:0000269|PubMed:23217327}.
|
| Top Pathways |
Apoptosis
|