NM000546

NM_000546 is a RefSeq mRNA sequence for the human TP53 gene. It represents the canonical TP53 transcript variant 1 and encodes the tumor protein p53, a transcription factor with a central role in cellular stress responses. The p53 protein is about 393 amino acids in length and has a molecular weight of roughly 53 kDa. It functions as a transcriptional regulator that coordinates a network of genes involved in cell cycle arrest, DNA repair, senescence, and apoptosis in response to DNA damage, oncogenic signaling, or other cellular stress.

TP53 is located on chromosome 17p13.1. The canonical transcript is accompanied by multiple alternative transcripts and spliced isoforms, yielding variants with differing C-termini that modulate DNA-binding activity and transcriptional regulation. p53 activity is tightly controlled by post-translational modifications and protein interactions; key regulatory pathways include stabilization via ATM/ATR-mediated phosphorylation after genotoxic stress and negative regulation by MDM2 and MDMX, which promote ubiquitination and proteasomal degradation under normal conditions.

Clinically, TP53 is among the most frequently mutated genes in human cancers. Somatic mutations, especially missense alterations in the DNA-binding domain, commonly disrupt p53’s tumor-suppressive functions, contributing to tumor development and progression. Germline TP53 mutations underlie Li-Fraumeni syndrome, a hereditary cancer predisposition condition. NM_000546 serves as a standard reference for this gene’s mRNA transcript in research and diagnostic contexts, frequently used in expression studies and primer design.