PML (NM_033238) - promyelocytic leukemia

Protein Pml Isoform 1

Mutations Visualisation

Protein summary

This is preferred isoform of PML protein. View all 9 isoforms
PML: protein PML isoform 1
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].

Strand
+
Chromosome
15
Protein
882 residues
All mutations
135
PTM sites
48
CDS
74,287,153 - 74,337,349
Transcription
74,287,013 - 74,340,155
35.83% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 5371
Uniprot
Ensembl