PML
Summary: The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
promyelocytic leukemia | MIM:102578 | Ensembl:ENSG00000140464 | HGNC:HGNC:9113 | PA33439 | 15q24.1 |
GO terms in PML
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
BP | IDA | GO:0001666 | response to hypoxia |
BP | ISS | GO:0001932 | regulation of protein phosphorylation |
BP | IEA | GO:0006351 | transcription, DNA-templated |
BP | IBA | GO:0006355 | regulation of transcription, DNA-templated |
BP | IMP | GO:0006355 | regulation of transcription, DNA-templated |
BP | IEA | GO:0006606 | protein import into nucleus |
BP | IEA | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process |
BP | ISS | GO:0006977 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest |
BP | IBA | GO:0007050 | cell cycle arrest |
BP | IEA | GO:0007050 | cell cycle arrest |
BP | IEA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
BP | IEA | GO:0007182 | common-partner SMAD protein phosphorylation |
BP | IMP | GO:0008285 | negative regulation of cell proliferation |
BP | IBA | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage |
BP | IEA | GO:0008631 | intrinsic apoptotic signaling pathway in response to oxidative stress |
BP | IEA | GO:0009411 | response to UV |
BP | IEA | GO:0010332 | response to gamma radiation |
BP | ISS | GO:0010522 | regulation of calcium ion transport into cytosol |
BP | IEA | GO:0010761 | fibroblast migration |
BP | IEA | GO:0016032 | viral process |
BP | IMP | GO:0016525 | negative regulation of angiogenesis |
BP | IEA | GO:0030099 | myeloid cell differentiation |
BP | IEA | GO:0030155 | regulation of cell adhesion |
BP | IDA | GO:0030308 | negative regulation of cell growth |
BP | IBA | GO:0030578 | PML body organization |
BP | IMP | GO:0030578 | PML body organization |
BP | IMP | GO:0032206 | positive regulation of telomere maintenance |
BP | ISS | GO:0032469 | endoplasmic reticulum calcium ion homeostasis |
BP | ISS | GO:0032922 | circadian regulation of gene expression |
BP | IDA | GO:0034097 | response to cytokine |
BP | ISS | GO:0042752 | regulation of circadian rhythm |
BP | ISS | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator |
BP | ISS | GO:0043153 | entrainment of circadian clock by photoperiod |
BP | IDA | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process |
BP | IBA | GO:0045087 | innate immune response |
BP | IDA | GO:0045087 | innate immune response |
BP | IEA | GO:0045165 | cell fate commitment |
BP | IEA | GO:0045345 | positive regulation of MHC class I biosynthetic process |
BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
BP | IEA | GO:0048146 | positive regulation of fibroblast proliferation |
BP | IEA | GO:0048384 | retinoic acid receptor signaling pathway |
BP | IEA | GO:0050713 | negative regulation of interleukin-1 beta secretion |
BP | IDA | GO:0051457 | maintenance of protein location in nucleus |
BP | IEA | GO:0051607 | defense response to virus |
BP | TAS | GO:0060333 | interferon-gamma-mediated signaling pathway |
BP | IEA | GO:0060444 | branching involved in mammary gland duct morphogenesis |
BP | IDA | GO:0065003 | protein-containing complex assembly |
BP | IEA | GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress |
BP | IEA | GO:0071353 | cellular response to interleukin-4 |
BP | IDA | GO:0090398 | cellular senescence |
BP | IEA | GO:0097191 | extrinsic apoptotic signaling pathway |
BP | TAS | GO:1901796 | regulation of signal transduction by p53 class mediator |
BP | IBA | GO:1902187 | negative regulation of viral release from host cell |
BP | IDA | GO:1902187 | negative regulation of viral release from host cell |
BP | IEA | GO:1990830 | cellular response to leukemia inhibitory factor |
BP | IMP | GO:2000059 | negative regulation of ubiquitin-dependent protein catabolic process |
BP | IMP | GO:2000779 | regulation of double-strand break repair |
BP | IMP | GO:2001238 | positive regulation of extrinsic apoptotic signaling pathway |
CC | IDA | GO:0000784 | nuclear chromosome, telomeric region |
CC | IEA | GO:0000792 | heterochromatin |
CC | IDA | GO:0005634 | nucleus |
CC | IDA | GO:0005654 | nucleoplasm |
CC | TAS | GO:0005654 | nucleoplasm |
CC | IDA | GO:0005730 | nucleolus |
CC | IBA | GO:0005737 | cytoplasm |
CC | IDA | GO:0005737 | cytoplasm |
CC | ISS | GO:0005829 | cytosol |
CC | TAS | GO:0005829 | cytosol |
CC | IBA | GO:0016363 | nuclear matrix |
CC | IEA | GO:0016363 | nuclear matrix |
CC | IBA | GO:0016605 | PML body |
CC | IDA | GO:0016605 | PML body |
CC | IDA | GO:0016605 | PML body |
CC | TAS | GO:0016605 | PML body |
CC | IEA | GO:0031901 | early endosome membrane |
CC | ISS | GO:0042406 | extrinsic component of endoplasmic reticulum membrane |
MF | IEA | GO:0003677 | DNA binding |
MF | IBA | GO:0003713 | transcription coactivator activity |
MF | IPI | GO:0005515 | protein binding |
MF | IEA | GO:0008270 | zinc ion binding |
MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
MF | IBA | GO:0032183 | SUMO binding |
MF | IPI | GO:0032183 | SUMO binding |
MF | IPI | GO:0042803 | protein homodimerization activity |
MF | IBA | GO:0046332 | SMAD binding |
MF | IEA | GO:0046332 | SMAD binding |
Gene expression in normal tissue: PML
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PML
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1257604 | PIP3 activates AKT signaling |
reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
reactome | R-HSA-162582 | Signal Transduction |
reactome | R-HSA-168256 | Immune System |
reactome | R-HSA-212436 | Generic Transcription Pathway |
reactome | R-HSA-2990846 | SUMOylation |
reactome | R-HSA-3108214 | SUMOylation of DNA damage response and repair proteins |
reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
reactome | R-HSA-3232142 | SUMOylation of ubiquitinylation proteins |
reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
reactome | R-HSA-392499 | Metabolism of proteins |
reactome | R-HSA-5633007 | Regulation of TP53 Activity |
reactome | R-HSA-597592 | Post-translational protein modification |
reactome | R-HSA-6804758 | Regulation of TP53 Activity through Acetylation |
reactome | R-HSA-6807070 | PTEN Regulation |
reactome | R-HSA-73857 | RNA Polymerase II Transcription |
reactome | R-HSA-74160 | Gene expression (Transcription) |
reactome | R-HSA-877300 | Interferon gamma signaling |
reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
reactome | R-HSA-8934593 | Regulation of RUNX1 Expression and Activity |
reactome | R-HSA-8948747 | Regulation of PTEN localization |
reactome | R-HSA-9006925 | Intracellular signaling by second messengers |
reactome | R-HSA-913531 | Interferon Signaling |
biocarta | pmlpathway | regulation of transcriptional activity by pml |
pid | mtor_4pathway | mTOR signaling pathway |
pid | myc_pathway | C-MYC pathway |
pid | p53downstreampathway | Direct p53 effectors |
pid | p73pathway | p73 transcription factor network |
pid | tap63pathway | Validated transcriptional targets of TAp63 isoforms |
pid | tgfbrpathway | TGF-beta receptor signaling |
kegg | hsa04120 | Ubiquitin mediated proteolysis - Homo sapiens (human) |
kegg | hsa04144 | Endocytosis - Homo sapiens (human) |
kegg | hsa05164 | Influenza A - Homo sapiens (human) |
kegg | hsa05168 | Herpes simplex infection - Homo sapiens (human) |
kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
kegg | hsa05221 | Acute myeloid leukemia - Homo sapiens (human) |
netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
netpath | Pathway_TNFalpha | TNFalpha |
wikipathways | WP1530 | miRNA Regulation of DNA Damage Response |
wikipathways | WP3658 | Wnt-beta-catenin Signaling Pathway in Leukemia |
wikipathways | WP366 | TGF-beta Signaling Pathway |
wikipathways | WP707 | DNA Damage Response |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD162 | All-trans Retinoic Acid | 3 |
iGMDRD494 | Neopeltolide | 2 |
iGMDRD330 | BRD4132 | 2 |
iGMDRD280 | CYTOCHALASIN B | 9 |
iGMDRD394 | BX-795 | 3 |
iGMDRD679 | Bistramide A | 6 |
iGMDRD154 | NSC23766 | 1 |
iGMDRD945 | ML214 | 3 |
iGMDRD132 | (-)-gallocatechin-3-O-gallate | 2 |
iGMDRD434 | BMS-536924 | 5 |
iGMDRD158 | NSC141540 | 3 |
iGMDRD255 | SB225002 | 6 |
iGMDRD60 | Quinoclamine | 8 |
iGMDRD268 | Cerulenin | 2 |
iGMDRD286 | Nsc 632839 | 1 |
iGMDRD188 | Piperlongumine | 6 |
iGMDRD366 | PI-103 | 4 |
iGMDRD506 | Fedratinib | 8 |
iGMDRD577 | BIX01294 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PML