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Gene: PML (promyelocytic leukemia) Homo sapiens
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Symbol: PML
Name: promyelocytic leukemia
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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: MYL; PML/RARA fusion; PP8675; probable transcription factor PML; promyelocytic leukemia protein; promyelocytic leukemia, inducer of; RING finger protein 71; RNF71; TRIM19; tripartite motif protein TRIM19; tripartite motif-containing protein 19
Orthologs:
Mus musculus (house mouse) : Pml (promyelocytic leukemia)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pml (promyelocytic leukemia)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pml (promyelocytic leukemia)
Pan paniscus (bonobo/pygmy chimpanzee) : PML (promyelocytic leukemia)
Canis lupus familiaris (dog) : PML (promyelocytic leukemia)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pml (promyelocytic leukemia)
Sus scrofa (pig) : PML (promyelocytic leukemia)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381573,994,673 - 74,047,819 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371574,287,014 - 74,340,160 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,074,067 - 72,127,213 (+)NCBINCBI36hg18NCBI36
Build 341572,074,066 - 72,115,787NCBI
Celera1551,164,334 - 51,230,308 (+)NCBI
Cytogenetic Map15q24.1NCBI
HuRef1551,118,849 - 51,172,183 (+)NCBIHuRef
CHM1_11574,404,975 - 74,458,114 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PML
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1345145
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.