DISEASES

Disease-gene associations mined from literature

Literature on BARD1

BARD1 [ENSP00000260947]

RING-type E3 ubiquitin transferase BARD1; E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage; Ankyrin repeat domain containing

Synonyms:  BARD1,  BARD1p,  hBARD1,  C9IYG1,  F6MDI1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM