PAGR1

Chr 16

PAXIP1 associated glutamate rich protein 1

Also known as: C16orf53, GAS, PA1

NCBI Gene: 79447 ENSG00000280789 UniProt: Q9BTK6

PAGR1 encodes a transcriptional cofactor that associates with histone methyltransferase complexes and regulates estrogen receptor signaling and cell cycle progression. Mutations cause autosomal dominant neurodevelopmental disorder with developmental delay, intellectual disability, and behavioral abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.538), consistent with its role in essential cellular processes.

ResearchSummary from RefSeq, UniProt

Enables nuclear estrogen receptor binding activity. Involved in positive regulation of cell cycle G1/S phase transition; positive regulation of intracellular estrogen receptor signaling pathway; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of MLL3/4 complex. Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.54

LOEUF

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Mechanism

Some data sources returned errors (1)

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