UIMC1
Chr 5ubiquitin interaction motif containing 1
Also known as: RAP80, X2HRIP110
The UIMC1 protein specifically recognizes and binds Lys-63-linked ubiquitinated histones at DNA damage sites, functioning as part of the BRCA1-A complex to recruit DNA repair machinery to double-strand breaks. Mutations cause autosomal recessive intellectual disability with microcephaly and variable features including growth retardation and facial dysmorphism. This gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected families.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UIMC1 · 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