DISEASES

Disease-gene associations mined from literature

Literature associating UIMC1 and ARC syndrome

UIMC1 [ENSP00000366434]

Ubiquitin interaction motif-containing protein 1; Ubiquitin-binding protein. Specifically recognizes and binds 'Lys-63'-linked ubiquitin. Plays a central role in the BRCA1-A complex by specifically binding 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity than 'Lys-63'-linked ubiquitin. May interact with monoubiquitinated histones H2A and H2B; the relevance of such results is however unclear in vivo. Does not bind Lys-48'-linked ubiquitin. May indirectly act as a transcriptional repressor by inhibiting the interaction of NR6A1 with the corepressor NCOR1; Belongs to the RAP80 family.

Synonyms:  UIMC1,  UIMC1p,  hUIMC1,  A0A024R7R0,  D6R9M3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM