| Gene Information | |
|---|---|
| Gene Name | PDCD8 |
| Organism | Homo sapiens (Human) |
| Gene Length | 613 |
| Protein Names | Apoptosis-inducing factor 1, mitochondrial (EC 1.6.99.-) (Programmed cell death protein 8) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O95831 |
| Gene Card | AIFM1 |
| Uniprot ID | O95831 |
| Pfam | PF14721; PF07992 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in all tested tissues (PubMed:16644725). Detected in muscle and skin fibroblasts (at protein level) (PubMed:23217327). Expressed in osteoblasts (at protein level) (PubMed:28842795). {ECO:0000269|PubMed:16644725, ECO:0000269|PubMed:23217327, ECO:0000269|PubMed:28842795}.; [Isoform 3]: Brain specific. {ECO:0000269|PubMed:20111043}.; [Isoform 4]: Expressed in all tested tissues except brain. {ECO:0000269|PubMed:16644725}.; [Isoform 5]: Isoform 5 is frequently down-regulated in human cancers. {ECO:0000269|PubMed:16365034}. |
| Pharmacological Animal Models | NULL(Chimpanzee);0.001000(Mouse);0.001578(Rat);0.011765(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1M6I (X-ray 1.80A ) 4BUR (X-ray 2.88A ) 4BV6 (X-ray 1.80A ) 4FDC (X-ray 2.40A ) 4LII (X-ray 1.88A ) 5FMH (X-ray 1.80A ) 5FS6 (X-ray 1.90A ) 5FS7 (X-ray 1.85A ) 5FS8 (X-ray 1.40A ) 5FS9 (X-ray 1.75A ) 5KVH (X-ray 2.27A ) 5KVI (X-ray 2.00A ) |
| DBSNP | rs387906500 rs377527583 rs1202786652 rs1202786652 rs1603225138 rs863225432 rs1603224817 rs1603224226 rs1603223152 rs184474885 rs724160026 rs724160021 rs724160020 rs1223488720 rs863225431 rs724160022 rs281864468 rs724160023 |
| Subcellular location [CC] | Mitochondrion intermembrane space {ECO:0000269|PubMed:15775970, ECO:0000269|PubMed:24914854, ECO:0000269|PubMed:26004228}. Mitochondrion inner membrane. Cytoplasm {ECO:0000269|PubMed:15775970, ECO:0000269|PubMed:33168626}. Nucleus {ECO:0000269|PubMed:15775970, ECO:0000269|PubMed:17094969, ECO:0000269|PubMed:33168626}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:17094969}. Note=Proteolytic cleavage during or just after translocation into the mitochondrial intermembrane space (IMS) results in the formation of an inner-membrane-anchored mature form (AIFmit). During apoptosis, further proteolytic processing leads to a mature form, which is confined to the mitochondrial IMS in a soluble form (AIFsol). AIFsol is released to the cytoplasm in response to specific death signals, and translocated to the nucleus, where it induces nuclear apoptosis (PubMed:15775970). Release into the cytoplasm is mediated upon binding to poly-ADP-ribose chains (By similarity). Translocation into the nucleus is promoted by interaction with (auto-poly-ADP-ribosylated) processed form of PARP1 (PubMed:33168626). Colocalizes with EIF3G in the nucleus and perinuclear region (PubMed:17094969). {ECO:0000250|UniProtKB:Q9Z0X1, ECO:0000269|PubMed:15775970, ECO:0000269|PubMed:17094969, ECO:0000269|PubMed:33168626}.; [Isoform 3]: Mitochondrion intermembrane space {ECO:0000269|PubMed:20111043}. Mitochondrion inner membrane {ECO:0000269|PubMed:20111043}. Note=Has a stronger membrane anchorage than isoform 1. {ECO:0000269|PubMed:20111043}.; [Isoform 4]: Mitochondrion {ECO:0000269|PubMed:16644725}. Cytoplasm, cytosol {ECO:0000269|PubMed:16644725}. Note=In pro-apoptotic conditions, is released from mitochondria to cytosol in a calpain/cathepsin-dependent manner. {ECO:0000269|PubMed:16644725}.; [Isoform 5]: Cytoplasm {ECO:0000269|PubMed:16365034}. |
| Mouse PG classification | NA |
| click here to return to the previous page | |