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    PML PML nuclear body scaffold [ Homo sapiens (human) ]

    Gene ID: 5371, updated on 5-Jan-2025

    Summary

    Official Symbol
    PMLprovided by HGNC
    Official Full Name
    PML nuclear body scaffoldprovided by HGNC
    Primary source
    HGNC:HGNC:9113
    See related
    Ensembl:ENSG00000140464 MIM:102578; AllianceGenome:HGNC:9113
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MYL; RNF71; PP8675; TRIM19
    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]
    Expression
    Ubiquitous expression in fat (RPKM 11.8), spleen (RPKM 8.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PML in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (73994716..74047827)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71812061..71865194)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74287057..74340168)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene LOXL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74219309-74220142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74220143-74220976 Neighboring gene Sharpr-MPRA regulatory region 13651 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74229856-74230455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74232882-74233777 Neighboring gene lysyl oxidase like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74244872-74245555 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74249081-74250280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9732 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74280304-74281503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6644 Neighboring gene stomatin like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74289929-74290431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9739 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74311530-74311700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74329432-74330313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74333577-74334149 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74338704-74338895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74357879-74358380 Neighboring gene dynamin 1 pseudogene 33 Neighboring gene RNA, 7SL, cytoplasmic 429, pseudogene Neighboring gene golgin A6 family member A

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
    EBI GWAS Catalog
    Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of PML enhances HIV-1 infectivity and reverse transcription in primary human foreskin fibroblast cells, but not in various T or myeloid cell lines PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env PML, TopBP1, NBS1 or ATM-induced activation of phosphorylation of Chk2 participates in the DNA damage-elicited pro-apoptotic cascade that leads to the demise of Env-elicited syncytia PubMed
    env Interactions between tumor suppressor protein PML, TopBP1 and ATM exhibit in HIV-1 Env-elicited syncytia PubMed
    env Tumor suppressor protein PML is required for the activating phosphorylation of ATM, p38 MAPK, and p53 in HIV-1 Env-elicited syncytia PubMed
    Tat tat Data suggests that PML proteins regulate Tat-mediated transcriptional activation by modulating the availability of cyclin T1 and other essential cofactors to the transcription machinery PubMed
    integrase gag-pol HIV-1 preintegration complexes containing HIV-1 integrase induce the cytoplasmic recruitment of integrase interactor 1 (INI1, hSNF5) and PML and associate with these cellular proteins before migrating to the nucleus PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding  
    enables SMAD binding  
    enables SUMO binding PubMed 
    enables SUMO transferase activity PubMed 
    enables SUMO transferase activity  
    enables cobalt ion binding PubMed 
    enables identical protein binding PubMed 
    enables molecular adaptor activity PubMed 
    enables protein binding PubMed 
    enables protein heterodimerization activity PubMed 
    enables protein homodimerization activity PubMed 
    enables transcription coactivator activity PubMed 
    enables ubiquitin protein ligase binding PubMed 
    enables ubiquitin-like protein ligase activity  
    enables zinc ion binding PubMed 
    enables zinc ion binding  
    Items 1 - 25 of 67
    Process Evidence Code Pubs
    involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest  
    involved_in PML body organization PubMed 
    involved_in PML body organization PubMed 
    involved_in SMAD protein signal transduction  
    involved_in apoptotic process PubMed 
    involved_in branching involved in mammary gland duct morphogenesis  
    involved_in cell fate commitment  
    involved_in cellular response to interleukin-4  
    involved_in cellular response to leukemia inhibitory factor  
    involved_in cellular senescence PubMed 
    involved_in chromatin remodeling PubMed 
    involved_in circadian regulation of gene expression  
    involved_in endoplasmic reticulum calcium ion homeostasis  
    involved_in entrainment of circadian clock by photoperiod  
    involved_in extrinsic apoptotic signaling pathway  
    involved_in fibroblast migration  
    involved_in innate immune response  
    involved_in innate immune response PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage  
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  
    involved_in intrinsic apoptotic signaling pathway in response to oxidative stress  
    acts_upstream_of_or_within maintenance of protein location in nucleus PubMed 
    involved_in myeloid cell differentiation  
    involved_in negative regulation of DNA-templated transcription PubMed 
    involved_in negative regulation of angiogenesis PubMed 
    involved_in negative regulation of cell growth PubMed 
    involved_in negative regulation of cell population proliferation PubMed 
    involved_in negative regulation of interleukin-1 beta production  
    involved_in negative regulation of mitotic cell cycle PubMed 
    involved_in negative regulation of telomere maintenance via telomerase PubMed 
    involved_in negative regulation of translation in response to oxidative stress PubMed 
    involved_in negative regulation of ubiquitin-dependent protein catabolic process PubMed 
    involved_in oncogene-induced cell senescence  
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of apoptotic process involved in mammary gland involution PubMed 
    involved_in positive regulation of defense response to virus by host PubMed 
    involved_in positive regulation of extrinsic apoptotic signaling pathway PubMed 
    involved_in positive regulation of fibroblast proliferation  
    involved_in positive regulation of peptidyl-lysine acetylation  
    involved_in positive regulation of protein localization to chromosome, telomeric region PubMed 
    involved_in positive regulation of signal transduction by p53 class mediator  
    involved_in positive regulation of telomere maintenance PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process PubMed 
    involved_in protein import into nucleus  
    involved_in protein stabilization PubMed 
    involved_in protein sumoylation  
    involved_in protein sumoylation  
    involved_in protein targeting PubMed 
    involved_in protein targeting PubMed 
    involved_in protein-containing complex assembly PubMed 
    involved_in protein-containing complex localization  
    involved_in regulation of DNA-templated transcription PubMed 
    involved_in regulation of calcium ion transport into cytosol  
    involved_in regulation of cell adhesion  
    involved_in regulation of cell cycle PubMed 
    involved_in regulation of circadian rhythm  
    involved_in regulation of double-strand break repair PubMed 
    involved_in response to UV  
    involved_in response to cytokine PubMed 
    involved_in response to gamma radiation  
    involved_in response to hypoxia PubMed 
    involved_in retinoic acid receptor signaling pathway  
    involved_in suppression of viral release by host  
    involved_in suppression of viral release by host PubMed 
    involved_in transforming growth factor beta receptor signaling pathway  
    Items 1 - 25 of 67
    Component Evidence Code Pubs
    is_active_in PML body  
    located_in PML body PubMed 
    located_in PML body PubMed 
    located_in chromosome, telomeric region PubMed 
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in cytosol  
    located_in early endosome membrane  
    located_in endoplasmic reticulum membrane  
    located_in nuclear matrix PubMed 
    located_in nuclear matrix  
    located_in nuclear membrane PubMed 
    located_in nucleolus PubMed 
    is_active_in nucleoplasm  
    located_in nucleoplasm PubMed 
    located_in nucleoplasm  
    located_in nucleus PubMed 

    General protein information

    Preferred Names
    protein PML
    Names
    E3 SUMO-protein ligase PML
    PML/RARA fusion
    RING finger protein 71
    RING-type E3 SUMO transferase PML
    probable transcription factor PML
    promyelocytic leukemia protein
    promyelocytic leukemia, inducer of
    tripartite motif protein TRIM19
    tripartite motif-containing protein 19

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029036.1 RefSeqGene

      Range
      5044..58155
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1069

    mRNA and Protein(s)

    1. NM_002675.4NP_002666.1  protein PML isoform 6

      See identical proteins and their annotated locations for NP_002666.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 3' UTR and the 3' coding region compared to variant 1. The resulting isoform (6, also known as PML-IV, PML-X and TRIM19zeta) contains a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BF510860, X63131
      Consensus CDS
      CCDS45297.1
      UniProtKB/Swiss-Prot
      P29590
      Related
      ENSP00000378567.3, ENST00000395135.7
      Conserved Domains (4) summary
      smart00336
      Location:124166
      BBOX; B-Box-type zinc finger
      pfam00097
      Location:5791
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam12126
      Location:240570
      DUF3583; Protein of unknown function (DUF3583)
      pfam14197
      Location:231293
      Cep57_CLD_2; Centrosome localization domain of PPC89
    2. NM_033238.3NP_150241.2  protein PML isoform 1

      See identical proteins and their annotated locations for NP_150241.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (1, also known as TRIM19alpha).
      Source sequence(s)
      AB209411, AC013486, M79462, X63131
      Consensus CDS
      CCDS10255.1
      UniProtKB/Swiss-Prot
      E9PBR7, P29590, P29591, P29592, P29593, Q00755, Q15959, Q59FP9, Q8WUA0, Q96S41, Q9BPW2, Q9BWP7, Q9BZX6, Q9BZX7, Q9BZX8, Q9BZX9, Q9BZY0, Q9BZY2, Q9BZY3
      Related
      ENSP00000268058.3, ENST00000268058.8
      Conserved Domains (5) summary
      smart00336
      Location:124166
      BBOX; B-Box-type zinc finger
      pfam00097
      Location:5791
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam12126
      Location:240570
      DUF3583; Protein of unknown function (DUF3583)
      pfam14197
      Location:231293
      Cep57_CLD_2; Centrosome localization domain of PPC89
      cl10012
      Location:610758
      DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    3. NM_033239.3NP_150242.1  protein PML isoform 9

      See identical proteins and their annotated locations for NP_150242.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 3' UTR and the 3' coding region compared to variant 1. The resulting isoform (9, also known as PML-II and TRIM19kappa) contains a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC034251, X63131
      Consensus CDS
      CCDS10257.1
      UniProtKB/TrEMBL
      Q9BZY1
      Related
      ENSP00000268059.6, ENST00000268059.10
      Conserved Domains (5) summary
      smart00336
      Location:124166
      BBOX; B-Box-type zinc finger
      pfam00097
      Location:5791
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam06484
      Location:509640
      Ten_N; Teneurin Intracellular Region
      pfam12126
      Location:240570
      DUF3583; Protein of unknown function (DUF3583)
      pfam14197
      Location:231293
      Cep57_CLD_2; Centrosome localization domain of PPC89
    4. NM_033240.3NP_150243.2  protein PML isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and the 3' coding region compared to variant 1. The resulting isoform (2, also known PML-2, PML-V and TRIM19beta) contains a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BX647287, X63131
      Consensus CDS
      CCDS45298.1
      UniProtKB/TrEMBL
      H3BT57
      Related
      ENSP00000395576.2, ENST00000435786.6
      Conserved Domains (4) summary
      smart00336
      Location:124166
      BBOX; B-Box-type zinc finger
      pfam00097
      Location:5791
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam12126
      Location:240570
      DUF3583; Protein of unknown function (DUF3583)
      pfam14197
      Location:231293
      Cep57_CLD_2; Centrosome localization domain of PPC89
    5. NM_033244.4NP_150247.2  protein PML isoform 5

      See identical proteins and their annotated locations for NP_150247.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 3' UTR and the 3' coding region compared to variant 1. The resulting isoform (5, also known as PML-3B, PML-VI and TRIM19epsilon) contains a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF230405, BC034251, X63131
      Consensus CDS
      CCDS45299.1
      UniProtKB/TrEMBL
      H3BT57
      Related
      ENSP00000394642.3, ENST00000436891.7
      Conserved Domains (5) summary
      TIGR00599
      Location:53125
      rad18; DNA repair protein rad18
      cd16449
      Location:5791
      RING-HC; HC subclass of RING (RING-HC) finger and its variants
      pfam12126
      Location:240552
      DUF3583; Protein of unknown function (DUF3583)
      cd19770
      Location:187237
      Bbox2_TRIM19_C-V; B-box-type 2 zinc finger found in tripartite motif-containing protein 19, also called promyelocytic leukemia protein (PML), and similar proteins
      cd19804
      Location:126168
      Bbox1_TRIM19_C-V; B-box-type 1 zinc finger found in promyelocytic leukemia protein (PML) and similar proteins
    6. NM_033246.3NP_150249.1  protein PML isoform 7

      See identical proteins and their annotated locations for NP_150249.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has multiple differences in the coding region compared to variant 1, one of which results in translational frame-shift. The resulting isoform (7, also known as PML-6B, PML-VIB, TRIM19eta and TRIM19iota) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BF510860, X63131
      Consensus CDS
      CCDS45300.1
      UniProtKB/TrEMBL
      Q59GQ8
      Related
      ENSP00000353004.4, ENST00000359928.8
      Conserved Domains (4) summary
      smart00336
      Location:124166
      BBOX; B-Box-type zinc finger
      pfam00097
      Location:5791
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam12126
      Location:240418
      DUF3583; Protein of unknown function (DUF3583)
      pfam14197
      Location:231293
      Cep57_CLD_2; Centrosome localization domain of PPC89
    7. NM_033247.3NP_150250.2  protein PML isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has multiple differences in the coding region compared to variant 1, one of which results in translational frame-shift. The resulting isoform (8, also known as PML-VII and TRIM19theta) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BC034251, X63131
      Consensus CDS
      CCDS10256.1
      UniProtKB/TrEMBL
      Q59GQ8
      Related
      ENSP00000378564.2, ENST00000395132.6
      Conserved Domains (4) summary
      smart00336
      Location:124166
      BBOX; B-Box-type zinc finger
      pfam00097
      Location:5791
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam12126
      Location:240418
      DUF3583; Protein of unknown function (DUF3583)
      pfam14197
      Location:231293
      Cep57_CLD_2; Centrosome localization domain of PPC89
    8. NM_033249.3NP_150252.1  protein PML isoform 10

      See identical proteins and their annotated locations for NP_150252.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) has multiple differences in the coding region compared to variant 1, one of which results in translational frame-shift. The resulting isoform (10, also known as PML-4A, PML-IVA and TRIM19lambda) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BF510860, X63131
      Consensus CDS
      CCDS58386.1
      UniProtKB/TrEMBL
      H3BT57
      Related
      ENSP00000457023.1, ENST00000564428.5
      Conserved Domains (5) summary
      TIGR00599
      Location:53125
      rad18; DNA repair protein rad18
      cd16449
      Location:5791
      RING-HC; HC subclass of RING (RING-HC) finger and its variants
      cd19770
      Location:187237
      Bbox2_TRIM19_C-V; B-box-type 2 zinc finger found in tripartite motif-containing protein 19, also called promyelocytic leukemia protein (PML), and similar proteins
      cd19804
      Location:126168
      Bbox1_TRIM19_C-V; B-box-type 1 zinc finger found in promyelocytic leukemia protein (PML) and similar proteins
      pfam12126
      Location:240522
      DUF3583; Protein of unknown function (DUF3583)
    9. NM_033250.3NP_150253.2  protein PML isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) has multiple differences in the coding region compared to variant 1, one of which results in translational frame-shift. The resulting isoform (11, also known as PML-2A and PML-IIA) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BC034251, X63131
      Consensus CDS
      CCDS10258.1
      UniProtKB/TrEMBL
      Q9BZY1
      Related
      ENSP00000315434.8, ENST00000354026.10
      Conserved Domains (5) summary
      smart00336
      Location:124166
      BBOX; B-Box-type zinc finger
      pfam00097
      Location:5791
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam06484
      Location:461592
      Ten_N; Teneurin Intracellular Region
      pfam12126
      Location:240522
      DUF3583; Protein of unknown function (DUF3583)
      pfam14197
      Location:231293
      Cep57_CLD_2; Centrosome localization domain of PPC89

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      73994716..74047827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      71812061..71865194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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