PURA Gene: Function, Mutations, and Associated Diseases | NCBI, UniProt, ClinVar

The PURA gene encodes a highly conserved DNA- and RNA-binding protein that functions as a transcriptional activator and regulator of mRNA translation. It binds to purine-rich elements in gene promoters and to specific RNA sequences, influencing cell cycle progression, neuronal differentiation, and synaptic function. Heterozygous loss-of-function mutations in PURA cause PURA syndrome, a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Transcriptional regulation by PURA (Reactome: R-HSA-212436)

• mRNA stability regulation (Reactome: R-HSA-8953854)

• Neuronal differentiation (KEGG: hsa04728)

PURA is a 322-amino acid protein (UniProt Q00577) containing two N-terminal DNA-binding domains and a C-terminal RNA-binding domain. It forms homodimers and heterodimers with PURB, binding to single-stranded purine-rich DNA sequences (e.g., PUR elements) and to specific mRNA targets (e.g., tau, MAP2). PURA regulates transcription of genes involved in cell cycle (e.g., cyclin B1) and neuronal development, and also controls mRNA translation and stability. Loss of PURA function leads to dysregulation of synaptic genes and neuronal excitability, underlying the pathogenesis of PURA syndrome.