Products

Fluorescent In Situ Hybridization (Cell)

Fluorescent In Situ Hybridization (Formalin/PFA-fixed paraffin-embedded sections)

Entrez GeneID

Gene Name

PML

Gene Alias

MYL, PP8675, RNF71, TRIM19

Gene Description

promyelocytic leukemia

Omim ID

Gene Ontology

Gene 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

Other Designations

promyelocytic leukemia protein|promyelocytic leukemia, inducer of|tripartite motif protein TRIM19

Entrez GeneID

Gene Name

RARA

Gene Alias

NR1B1, RAR

Gene Description

retinoic acid receptor, alpha

Omim ID

Gene Ontology

Gene Summary

Retinoid signaling is transduced by 2 families of nuclear receptors, retinoic acid receptor (RAR) and retinoid X receptor (RXR; see MIM 180245), which form RXR/RAR heterodimers. In the absence of ligand, DNA-bound RXR/RARA represses transcription by recruiting the corepressors NCOR1 (MIM 600849), SMRT (NCOR2; MIM 600848), and histone deacetylase (see MIM 601241). When ligand binds to the complex, it induces a conformational change allowing the recruitment of coactivators, histone acetyltransferases (see MIM 603053), and the basic transcription machinery. Translocations that always involve rearrangement of the RARA gene are a cardinal feature of acute promyelocytic leukemia (APL; MIM 612376). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (MIM 102578) (Vitoux et al., 2007 [PubMed 17468032]).[supplied by OMIM

Other Designations

OTTHUMP00000164454|OTTHUMP00000164456|Retinoic acid receptor, alpha polypeptide|nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long form