DISEASES

Disease-gene associations mined from literature

Literature on MAML1

MAML1 [ENSP00000292599]

Mastermind-like protein 1; Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Enhances phosphorylation and proteolytic turnover of the NOTCH intracellular domain in the nucleus through interaction with CDK8. Binds to CREBBP/CBP which promotes nucleosome acetylation at NOTCH enhancers and activates transcription. Induces phosphorylation and localization of CREBBP to nuclear foci. Plays a role in hematopoietic development by regulating NOTCH-mediated lymphoid cell fate decisions. ECO:0000269|PubMed:12050117, ECO:0000269|PubMed:15546612,; Belongs to the mastermind family.

Synonyms:  MAML1,  MAML1p,  hMAML1,  Q92585,  Q92585p ...

Linkouts:  STRING  Pharos  UniProt  OMIM