PUM1
Chr 1ADpumilio RNA binding family member 1
Also known as: HSPUM, NEDMSF, PUMH, PUMH1, PUML1, SCA47
The PUM1 protein is an RNA-binding protein that regulates gene expression by binding to the 3' untranslated regions of target mRNAs and repressing their translation, playing critical roles in cell cycle regulation, DNA repair, and neuronal function. Mutations cause a neurodevelopmental disorder with motor abnormalities and facial dysmorphism with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants, indicating that proper PUM1 function is essential for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PUM1 · 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
External Resources
Links to major genomics databases and tools