NOP53
Chr 19NOP53 ribosome biogenesis factor
Also known as: GLTSCR2, PICT-1, PICT1
NOP53 encodes a nucleolar protein that integrates 5S ribosomal RNA into the large ribosomal subunit during ribosome biogenesis and functions as a nucleolar sensor that regulates p53 activation in response to ribosomal stress and DNA damage. Mutations cause autosomal dominant colorectal cancer with chromosomal instability, typically presenting as adult-onset malignancy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.494), suggesting some tolerance for inactivating mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NOP53 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools