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Pml promyelocytic leukemia [ Mus musculus (house mouse) ]

Gene ID: 18854, updated on 26-Sep-2022

Summary

Official Symbol
Pmlprovided by MGI
Official Full Name
promyelocytic leukemiaprovided by MGI
Primary source
MGI:MGI:104662
See related
Ensembl:ENSMUSG00000036986 AllianceGenome:MGI:104662
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Trim19; 1200009E24Rik
Summary
Enables SMAD binding activity. Involved in several processes, including defense response to other organism; regulation of gene expression; and signal transduction by p53 class mediator. Acts upstream of or within several processes, including apoptotic signaling pathway; positive regulation of macromolecule metabolic process; and transmembrane receptor protein serine/threonine kinase signaling pathway. Located in PML body; cytosol; and nuclear matrix. Is extrinsic component of endoplasmic reticulum membrane. Colocalizes with heterochromatin. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in acute promyelocytic leukemia and skin cancer. Orthologous to human PML (PML nuclear body scaffold). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen adult (RPKM 20.1), thymus adult (RPKM 9.8) and 25 other tissues See more
Orthologs
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Genomic context

See Pml in Genome Data Viewer
Location:
9 B; 9 31.63 cM
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (58124462..58157077, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (58217179..58249796, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39344 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene immunoglobulin superfamily containing leucine-rich repeat 2 Neighboring gene microRNA 6385 Neighboring gene stomatin-like 1 Neighboring gene lysyl oxidase-like 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (2) 
  • Targeted (4)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables SMAD binding IDA
Inferred from Direct Assay
more info
PubMed 
enables SUMO binding ISO
Inferred from Sequence Orthology
more info
 
enables SUMO transferase activity ISO
Inferred from Sequence Orthology
more info
 
enables cobalt ion binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables sumo-dependent protein binding ISO
Inferred from Sequence Orthology
more info
 
enables transcription coactivator activity ISO
Inferred from Sequence Orthology
more info
 
enables transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
 
enables ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables zinc ion binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in PML body organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within PML body organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in PML body organization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in apoptotic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within branching involved in mammary gland duct morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cellular response to interleukin-4 IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in cellular senescence ISO
Inferred from Sequence Orthology
more info
 
involved_in circadian regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within common-partner SMAD protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within defense response to virus IEA
Inferred from Electronic Annotation
more info
 
involved_in endoplasmic reticulum calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in entrainment of circadian clock by photoperiod IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in fibroblast migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
more info
 
involved_in innate immune response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in innate immune response ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intrinsic apoptotic signaling pathway in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intrinsic apoptotic signaling pathway in response to DNA damage ISO
Inferred from Sequence Orthology
more info
 
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within maintenance of protein location in nucleus ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within myeloid cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of angiogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of cell growth ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of interleukin-1 beta production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of interleukin-1 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of mitotic cell cycle ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of telomerase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of telomere maintenance via telomerase ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of translation in response to oxidative stress ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of ubiquitin-dependent protein catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in oncogene-induced cell senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of apoptotic process involved in mammary gland involution ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of apoptotic signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within positive regulation of apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of defense response to virus by host ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of extrinsic apoptotic signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of fibroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of histone deacetylation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of peptidyl-lysine acetylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein localization to chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of signal transduction by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of telomere maintenance ISO
Inferred from Sequence Orthology
more info
 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein stabilization ISO
Inferred from Sequence Orthology
more info
 
involved_in protein targeting ISO
Inferred from Sequence Orthology
more info
 
involved_in protein-containing complex assembly ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein-containing complex localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of calcium ion transport into cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell cycle ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of circadian rhythm IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of double-strand break repair ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to cytokine ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within response to gamma radiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to hypoxia ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within retinoic acid receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within rhythmic process IEA
Inferred from Electronic Annotation
more info
 
involved_in suppression of viral release by host IDA
Inferred from Direct Assay
more info
PubMed 
involved_in suppression of viral release by host ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in PML body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in PML body IDA
Inferred from Direct Assay
more info
PubMed 
located_in PML body IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in PML body ISO
Inferred from Sequence Orthology
more info
 
is_active_in chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
located_in extrinsic component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with heterochromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear matrix ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear membrane ISO
Inferred from Sequence Orthology
more info
 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
protein PML
Names
probable transcription factor PML

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.

mRNA and Protein(s)

  1. NM_001311088.1NP_001298017.1  protein PML isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region that results in a frame-shift compared to variant 2. It encodes isoform 3, which is shorter than and has a distinct C-terminus compared to isoform 2.
    Source sequence(s)
    AC160976, AK028044, AK032799, AK137538, BG228200, BX524753, CK336382
    Consensus CDS
    CCDS81007.1
    UniProtKB/Swiss-Prot
    Q60953
    UniProtKB/TrEMBL
    D3Z3A6, Q8BSJ6
    Related
    ENSMUSP00000122854.2, ENSMUST00000135310.8
    Conserved Domains (2) summary
    pfam12126
    Location:244580
    DUF3583; Protein of unknown function (DUF3583)
    pfam13923
    Location:6296
    zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
  2. NM_008884.5NP_032910.3  protein PML isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame segment in the CDS, compared to variant 2. The resulting protein (isoform 1) is shorter than isoform 2.
    Source sequence(s)
    AC160976, AK028044, AK032799, AK137538, BB659153, BG228200, U33626
    Consensus CDS
    CCDS23240.2
    UniProtKB/Swiss-Prot
    Q60953
    UniProtKB/TrEMBL
    Q8BSJ6
    Related
    ENSMUSP00000109771.3, ENSMUST00000114136.9
    Conserved Domains (3) summary
    pfam12126
    Location:244534
    DUF3583; Protein of unknown function (DUF3583)
    pfam13923
    Location:6296
    zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
    cl10012
    Location:573722
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
  3. NM_178087.4NP_835188.2  protein PML isoform 2

    See identical proteins and their annotated locations for NP_835188.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and it encodes the longest protein (isoform 2).
    Source sequence(s)
    AC160976, AK028044, AK032799, AK137538, BB659153, BG228200, U33626
    Consensus CDS
    CCDS23239.1
    UniProtKB/Swiss-Prot
    Q60953, Q8VCC4
    UniProtKB/TrEMBL
    A0A068EW80, Q8BSJ6
    Related
    ENSMUSP00000082816.5, ENSMUST00000085673.11
    Conserved Domains (4) summary
    smart00336
    Location:134171
    BBOX; B-Box-type zinc finger
    pfam12126
    Location:244580
    DUF3583; Protein of unknown function (DUF3583)
    pfam13923
    Location:6296
    zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
    cl10012
    Location:619768
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    58124462..58157077 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006510861.3XP_006510924.1  protein PML isoform X2

    Conserved Domains (6) summary
    cd00162
    Location:6296
    RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]
    pfam12126
    Location:244534
    DUF3583; Protein of unknown function (DUF3583)
    cd19804
    Location:131173
    Bbox1_TRIM19_C-V; B-box-type 1 zinc finger found in promyelocytic leukemia protein (PML) and similar proteins
    cl00034
    Location:191239
    Bbox_SF; B-box-type zinc finger superfamily
    cl10012
    Location:573722
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    cl17238
    Location:6096
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  2. XM_006510860.3XP_006510923.1  protein PML isoform X1

    Conserved Domains (6) summary
    cd00162
    Location:6296
    RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]
    pfam12126
    Location:244580
    DUF3583; Protein of unknown function (DUF3583)
    cd19804
    Location:131173
    Bbox1_TRIM19_C-V; B-box-type 1 zinc finger found in promyelocytic leukemia protein (PML) and similar proteins
    cl00034
    Location:191239
    Bbox_SF; B-box-type zinc finger superfamily
    cl10012
    Location:619768
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily
    cl17238
    Location:6096
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  3. XM_017313212.3XP_017168701.1  protein PML isoform X6

    Conserved Domains (5) summary
    cd00162
    Location:6296
    RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]
    pfam12126
    Location:244534
    DUF3583; Protein of unknown function (DUF3583)
    cd19804
    Location:131173
    Bbox1_TRIM19_C-V; B-box-type 1 zinc finger found in promyelocytic leukemia protein (PML) and similar proteins
    cl00034
    Location:191239
    Bbox_SF; B-box-type zinc finger superfamily
    cl17238
    Location:6096
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  4. XM_030244128.2XP_030099988.1  protein PML isoform X5

    Related
    ENSMUSP00000116787.2, ENSMUST00000126690.8
    Conserved Domains (5) summary
    cd00162
    Location:6296
    RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]
    pfam12126
    Location:244534
    DUF3583; Protein of unknown function (DUF3583)
    cd19804
    Location:131173
    Bbox1_TRIM19_C-V; B-box-type 1 zinc finger found in promyelocytic leukemia protein (PML) and similar proteins
    cl00034
    Location:191239
    Bbox_SF; B-box-type zinc finger superfamily
    cl17238
    Location:6096
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  5. XM_006510864.5XP_006510927.1  protein PML isoform X4

    Conserved Domains (5) summary
    cd00162
    Location:6296
    RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]
    pfam12126
    Location:244580
    DUF3583; Protein of unknown function (DUF3583)
    cd19804
    Location:131173
    Bbox1_TRIM19_C-V; B-box-type 1 zinc finger found in promyelocytic leukemia protein (PML) and similar proteins
    cl00034
    Location:191239
    Bbox_SF; B-box-type zinc finger superfamily
    cl17238
    Location:6096
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  6. XM_006510862.5XP_006510925.1  protein PML isoform X3

    Conserved Domains (5) summary
    cd00162
    Location:6296
    RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]
    pfam12126
    Location:244580
    DUF3583; Protein of unknown function (DUF3583)
    cd19804
    Location:131173
    Bbox1_TRIM19_C-V; B-box-type 1 zinc finger found in promyelocytic leukemia protein (PML) and similar proteins
    cl00034
    Location:191239
    Bbox_SF; B-box-type zinc finger superfamily
    cl17238
    Location:6096
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain