Gene Gene information from NCBI Gene database.
Entrez ID 5371
Gene name PML nuclear body scaffold
Gene symbol PML
Synonyms (NCBI Gene)
MYLPP8675RNF71TRIM19
Chromosome 15
Chromosome location 15q24.1
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 wh
miRNA miRNA information provided by mirtarbase database.
165
miRTarBase ID miRNA Experiments Reference
MIRT018318 hsa-miR-335-5p Microarray 18185580
MIRT043919 hsa-miR-378a-3p CLASH 23622248
MIRT042535 hsa-miR-423-3p CLASH 23622248
MIRT042535 hsa-miR-423-3p CLASH 23622248
MIRT1244408 hsa-miR-1227 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
Transcription factor Regulation Reference
ARID3A Activation 22010578
IRF9 Activation 8681971
PML Activation 15529177
STAT1 Activation 21115099;22589541
STAT1 Unknown 15519999
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
146
GO ID Ontology Definition Evidence Reference
GO:0000781 Component Chromosome, telomeric region IDA 26119943
GO:0001666 Process Response to hypoxia IDA 16915281
GO:0001666 Process Response to hypoxia IEA
GO:0001666 Process Response to hypoxia IEA
GO:0002230 Process Positive regulation of defense response to virus by host IMP 16873256, 16873257
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
102578 9113 ENSG00000140464
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29590
Protein name Protein PML (E3 SUMO-protein ligase PML) (EC 2.3.2.-) (Promyelocytic leukemia protein) (RING finger protein 71) (RING-type E3 SUMO transferase PML) (Tripartite motif-containing protein 19) (TRIM19)
Protein function Functions via its association with PML-nuclear bodies (PML-NBs) in a wide range of important cellular processes, including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. A
PDB 1BOR , 2MVW , 2MWX , 4WJN , 4WJO , 5YUF , 6IMQ , 6UYO , 6UYP , 6UYQ , 6UYR , 6UYS , 6UYT , 6UYU , 6UYV , 8DJH , 8DJI , 8J25 , 8J2P , 8YTC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00643 zf-B_box 124 166 B-box zinc finger Domain
PF12126 DUF3583 240 570 Protein of unknown function (DUF3583) Family
Sequence
MEPAPARSPRPQQDPARPQEPTMPPPETPSEGRQPSPSPSPTERAPASEEEFQFLRCQQC
QAEAKCPKLLPCLHTLCSGCLEASGMQCPICQAPWPLGADTPALDNVFFESLQRRLSVYR
QIVDAQAVCTRCKESADFWCFECEQLLCAKCFEAHQWFLKHEARPLAELRNQSVREFLDG
TRKTNNIFCSNPNHRTPTLTSIYCRGCSKPLCCSCALLDSSHSELKCDISAEIQQRQEEL
DAMTQALQEQDSAFGAVHAQMHAAVGQLGRARAETEELIRERVRQVVAHVRAQERELLEA
VDARYQRDYEEMASRLGRLDAVLQRIRTGSALVQRMKCYASDQEVLDMHGFLRQALCRLR
QEEPQSLQAAVRTDGFDEFKVRLQDLSSCITQGKDAAVSKKASPEAASTPRDPIDVDLPE
EAERVKAQVQALGLAEAQPMAVVQSVPGAHPVPVYAFSIKGPSYGEDVSNTTTAQKRKCS
QTQCPRKVIKMESEEGKEARLARSSPEQPRPSTSKAVSPPHLDGPPSPRSPVIGSEVFLP
NSNHVASGAGEAEERVVVISSSEDSDAENS
SSRELDDSSSESSDLQLEGPSTLRVLDENL
ADPQAEDRPLVFFDLKIDNETQKISQLAAVNRESKFRVVIQPEAFFSIYSKAVSLEVGLQ
HFLSFLSSMRRPILACYKLWGPGLPNFFRALEDINRLWEFQEAISGFLAALPLIRERVPG
ASSFKLKNLAQTYLARNMSERSAMAAVLAMRDLCRLLEVSPGPQLAQHVYPFSSLQCFAS
LQPLVQAAVLPRAEARLLALHNVSFMELLSAHRRDRQGGLKKYSRYLSLQTTTLPPAQPA
FNLQALGTYFEGLLEGPALARAEGVSTPLAGRGLAERASQQS
Sequence length 882
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Breast ductal adenocarcinoma Uncertain significance rs780746013 RCV000207284
Malignant tumor of urinary bladder Uncertain significance rs140050477 RCV005931252
PML-related disorder Likely benign; Benign rs141646523, rs78340702, rs111658103, rs140216915, rs148636537, rs111398700, rs743582, rs780737061, rs556426526, rs743580, rs743581, rs112272650 RCV003931861
RCV003961553
RCV003949822
RCV003959292
RCV003914555
RCV003922241
RCV003981960
RCV003957414
RCV003968941
RCV003972733
RCV003972734
RCV003916180
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute erythroleukemia Associate 11552979
Acute Retroviral Syndrome Associate 15589835, 26566030
Adenoviridae Infections Associate 7559785
Alternating hemiplegia of childhood Associate 21037079, 23260199, 24413054, 24709898, 25259924, 30226859, 31278054
Alzheimer Disease Associate 26444770
Aortic Dissection Associate 33083483
Arthritis Rheumatoid Associate 17360386
Ataxia Associate 10669754
Blood Coagulation Disorders Associate 20133705
Brain Neoplasms Associate 24487962