ENSG00000140464


Homo sapiens

Features
Gene ID: ENSG00000140464
  
Biological name :PML
  
Synonyms : P29590 / PML / promyelocytic leukemia
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q24.1
Gene start: 73994673
Gene end: 74047812
  
Corresponding Affymetrix probe sets: 206503_x_at (Human Genome U133 Plus 2.0 Array)   209640_at (Human Genome U133 Plus 2.0 Array)   210362_x_at (Human Genome U133 Plus 2.0 Array)   211012_s_at (Human Genome U133 Plus 2.0 Array)   211013_x_at (Human Genome U133 Plus 2.0 Array)   211014_s_at (Human Genome U133 Plus 2.0 Array)   211588_s_at (Human Genome U133 Plus 2.0 Array)   211589_at (Human Genome U133 Plus 2.0 Array)   235508_at (Human Genome U133 Plus 2.0 Array)   239582_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000458061
Ensembl peptide - ENSP00000457032
Ensembl peptide - ENSP00000457669
Ensembl peptide - ENSP00000268058
Ensembl peptide - ENSP00000268059
Ensembl peptide - ENSP00000315434
Ensembl peptide - ENSP00000353004
Ensembl peptide - ENSP00000378564
Ensembl peptide - ENSP00000378567
Ensembl peptide - ENSP00000394642
Ensembl peptide - ENSP00000395576
Ensembl peptide - ENSP00000455612
Ensembl peptide - ENSP00000455838
Ensembl peptide - ENSP00000456277
Ensembl peptide - ENSP00000456329
Ensembl peptide - ENSP00000456486
Ensembl peptide - ENSP00000456989
Ensembl peptide - ENSP00000457023
NCBI entrez gene - 5371     See in Manteia.
OMIM - 102578
RefSeq - NM_033239
RefSeq - NM_002675
RefSeq - NM_033238
RefSeq - NM_033240
RefSeq - NM_033244
RefSeq - NM_033246
RefSeq - NM_033247
RefSeq - NM_033249
RefSeq - NM_033250
RefSeq Peptide - NP_150249
RefSeq Peptide - NP_150250
RefSeq Peptide - NP_150252
RefSeq Peptide - NP_150253
RefSeq Peptide - NP_002666
RefSeq Peptide - NP_150241
RefSeq Peptide - NP_150242
RefSeq Peptide - NP_150243
RefSeq Peptide - NP_150247
swissprot - H3BUJ5
swissprot - P29590
swissprot - H3BVD2
swissprot - H3BRN3
swissprot - H3BT29
swissprot - H3BT57
Ensembl - ENSG00000140464
  
Related genetic diseases (OMIM): 102578 - Leukemia, acute promyelocytic, PML/RARA type
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000045534Gallus gallus
 ENSGALG00000045105Gallus gallus
 PmlENSMUSG00000036986Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000315  B-box-type zinc finger
 IPR001841  Zinc finger, RING-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR017907  Zinc finger, RING-type, conserved site
 IPR021978  Protein of unknown function DUF3583


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IDA
 biological_processGO:0001932 regulation of protein phosphorylation ISS
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IMP
 biological_processGO:0006606 protein import into nucleus IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
 biological_processGO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest ISS
 biological_processGO:0007050 cell cycle arrest IEA
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0007182 common-partner SMAD protein phosphorylation IEA
 biological_processGO:0007569 cell aging IEA
 biological_processGO:0008285 negative regulation of cell proliferation IMP
 biological_processGO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IEA
 biological_processGO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress IEA
 biological_processGO:0009411 response to UV IEA
 biological_processGO:0010332 response to gamma radiation IEA
 biological_processGO:0010522 regulation of calcium ion transport into cytosol ISS
 biological_processGO:0010761 fibroblast migration IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016525 negative regulation of angiogenesis IMP
 biological_processGO:0030099 myeloid cell differentiation IEA
 biological_processGO:0030155 regulation of cell adhesion IEA
 biological_processGO:0030308 negative regulation of cell growth IDA
 biological_processGO:0030578 PML body organization IMP
 biological_processGO:0032206 positive regulation of telomere maintenance IMP
 biological_processGO:0032469 endoplasmic reticulum calcium ion homeostasis ISS
 biological_processGO:0032922 circadian regulation of gene expression ISS
 biological_processGO:0034097 response to cytokine IDA
 biological_processGO:0042752 regulation of circadian rhythm ISS
 biological_processGO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator ISS
 biological_processGO:0043153 entrainment of circadian clock by photoperiod ISS
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IDA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045165 cell fate commitment IEA
 biological_processGO:0045343 regulation of MHC class I biosynthetic process IEA
 biological_processGO:0045345 positive regulation of MHC class I biosynthetic process IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048146 positive regulation of fibroblast proliferation IEA
 biological_processGO:0048384 retinoic acid receptor signaling pathway IEA
 biological_processGO:0048511 rhythmic process IEA
 biological_processGO:0050711 negative regulation of interleukin-1 secretion IEA
 biological_processGO:0050713 negative regulation of interleukin-1 beta secretion IEA
 biological_processGO:0051457 maintenance of protein location in nucleus IDA
 biological_processGO:0051607 defense response to virus IEA
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway TAS
 biological_processGO:0060444 branching involved in mammary gland duct morphogenesis IEA
 biological_processGO:0065003 protein-containing complex assembly IDA
 biological_processGO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IEA
 biological_processGO:0071353 cellular response to interleukin-4 IEA
 biological_processGO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator IEA
 biological_processGO:0090398 cellular senescence IDA
 biological_processGO:0097191 extrinsic apoptotic signaling pathway IEA
 biological_processGO:1901796 regulation of signal transduction by p53 class mediator TAS
 biological_processGO:1902187 negative regulation of viral release from host cell IDA
 biological_processGO:1990830 cellular response to leukemia inhibitory factor IEA
 biological_processGO:2000059 negative regulation of ubiquitin-dependent protein catabolic process IMP
 biological_processGO:2000779 regulation of double-strand break repair IMP
 biological_processGO:2001235 positive regulation of apoptotic signaling pathway IEA
 biological_processGO:2001238 positive regulation of extrinsic apoptotic signaling pathway IMP
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IDA
 cellular_componentGO:0000792 heterochromatin IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016363 nuclear matrix IEA
 cellular_componentGO:0016605 PML body TAS
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0042406 extrinsic component of endoplasmic reticulum membrane ISS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0032183 SUMO binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0046332 SMAD binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Regulation of TP53 Activity through Acetylation
Interferon gamma signaling
Regulation of RUNX1 Expression and Activity
Regulation of PTEN localization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000083168 KAT6A / Q92794 / lysine acetyltransferase 6A  / complex / reaction
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000159216 RUNX1 / Q01196 / runt related transcription factor 1  / reaction / complex
 ENSG00000141510 TP53 / P04637 / tumor protein p53  / complex / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / complex / reaction
 ENSG00000163875 MEAF6 / Q9HAF1 / MYST/Esa1 associated factor 6  / reaction / complex
 ENSG00000168395 ING5 / Q8WYH8 / inhibitor of growth family member 5  / complex / reaction
 ENSG00000184900 SUMO3 / P55854 / small ubiquitin-like modifier 3  / reaction
 ENSG00000188612 SUMO2 / P61956 / small ubiquitin-like modifier 2  / reaction
 ENSG00000156983 BRPF1 / P55201 / bromodomain and PHD finger containing 1  / reaction / complex






 

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