UIMC1

Chr 5

ubiquitin interaction motif containing 1

Also known as: RAP80, X2HRIP110

NCBI Gene: 51720 ENSG00000087206 UniProt: Q96RL1

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.

ResearchSummary from RefSeq, UniProt

This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.65

LOEUF

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Mechanism

Some data sources returned errors (1)