Version: 8.0.0Date: Tue Jan 28 2025
Gene
PML
- Species
- Homo sapiens
- Symbol
- PML
- Name
- PML nuclear body scaffold
- Synonyms
- E3 SUMO-protein ligase PML
- MYL
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including protein dimerization activity; transition metal ion binding activity; and ubiquitin protein ligase binding activity. Involved in several processes, including defense response to symbiont; positive regulation of apoptotic process; and regulation of primary metabolic process. Acts upstream of or within maintenance of protein location in nucleus. Located in several cellular components, including chromosome, telomeric region; nuclear lumen; and nuclear membrane. Implicated in acute promyelocytic leukemia and skin cancer. Biomarker of clear cell renal cell carcinoma; hepatocellular carcinoma; multiple myeloma; and pre-eclampsia.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR25462
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr15:73994673...74047827 + (53.15 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.