DISEASES

Disease-gene associations mined from literature

Literature associating RBL1 and bilateral retinoblastoma

RBL1 [ENSP00000362768]

107 kDa retinoblastoma-associated protein; Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys- 20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation. Forms a complex with adenovirus E1A and with SV40 large T antigen. May bind and modulate functionally certain cellular proteins with which T and E1A compete for pocket binding. May act as a tumor suppressor; Belongs to the retinoblastoma protein (RB) family.

Synonyms:  RBL1p,  hRBL1,  E9PNB6,  P28749,  RBL1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM