Aliases for MAML1 Gene
External Ids for MAML1 Gene
Previous GeneCards Identifiers for MAML1 Gene
This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]
GeneCards Summary for MAML1 Gene
MAML1 (Mastermind Like Transcriptional Coactivator 1) is a Protein Coding gene. Diseases associated with MAML1 include T-Cell Acute Lymphoblastic Leukemia and Juxtacortical Chondrosarcoma. Among its related pathways are Signaling by GPCR and Development NOTCH1-mediated pathway for NF-KB activity modulation. Gene Ontology (GO) annotations related to this gene include protein kinase binding and peptide antigen binding. An important paralog of this gene is MAML3.
UniProtKB/Swiss-Prot Summary for MAML1 Gene
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.