Disease-gene associations mined from literature

Literature associating CREBBP and otopalatodigital syndrome type 1

CREBBP [ENSP00000262367]

CREB binding protein; Acetylates histones, giving a specific tag for transcriptional activation. Also acetylates non-histone proteins, like NCOA3 and FOXO1. Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK- ARNTL/BMAL1 heterodimers. Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER); Bromodomain containing

Synonyms:  CREBBP,  B5A212,  B5A214,  B5A215,  B5A216 ...

Linkouts:  STRING  Pharos  UniProt  OMIM