NUPR1

Chr 16

nuclear protein 1, transcriptional regulator

Also known as: COM1, P8

NCBI Gene: 26471 ENSG00000176046 UniProt: O60356

The protein encoded by this gene is a transcription regulator that converts cellular stress signals into gene expression programs, controlling cell cycle progression, apoptosis, autophagy, and DNA repair responses. Mutations in NUPR1 cause autosomal recessive neurodevelopmental disorder with microcephaly and structural brain anomalies, typically presenting in early infancy with developmental delays and neurological features. The gene shows tolerance to loss-of-function variants (pLI 0.004, LOEUF 1.91), consistent with the recessive inheritance pattern observed in affected patients.

ResearchSummary from RefSeq, UniProt

Enables DNA binding activity and transcription coactivator activity. Involved in several processes, including negative regulation of programmed cell death; positive regulation of oxidative phosphorylation; and regulation of catabolic process. Acts upstream of or within negative regulation of cell cycle. Located in intercellular bridge; nucleoplasm; and perinuclear region of cytoplasm. Part of protein-DNA complex. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.91

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)