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MAML1 (Mastermind-like protein 1)
FEATURES
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FAMILY
DESCRIPTION
Also known as MAML1_HUMAN, MAML1, KIAA0200. 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. Interacts (via N-terminus) with NOTCH1, NOTCH2, NOTCH3 and NOTCH4 (via ankyrin repeat region). Interacts (via N-terminus) with p53 (via DNA-binding region). Forms a DNA-binding complex with Notch proteins and RBPSUH/RBP-J kappa/CBF1. Also binds CREBBP/CBP and CDK8.Forms a complex with PRAG1, NOTCH1 and MAML1, in a MAML1-dependent manner (By similarity).
Also known as MAML1_HUMAN, MAML1, KIAA0200. 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 acetylati ...
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MAML1

Mastermind-like protein 1

Mutations

FILTERS

Mutation(s) distribution

Mutations table

Study NameMutation TypeSeveritySeq. Cons. ScorePrediction scorePositionAmino acid changeTCGA Patient ID
Uterine endometrial (UCEC) Missense variant MODERATE 100% 67.6% 107 Leu107Phe TCGA-A5-A0G2
Stomach (STAD) Missense variant MODERATE 100% 12.1% 110 Thr110Ala TCGA-VQ-A8P2
Uterine endometrial (UCEC) Missense variant MODERATE 100% 60.7% 112 Lys112Asn TCGA-FI-A2D5
Colon (COAD) Stop gained HIGH 100% 0% 122 Gln122* TCGA-D5-6535
Melanoma (SKCM) Missense variant MODERATE 100% 79.9% 125 Asp125Asn TCGA-RP-A693
Uterine endometrial (UCEC) Missense variant MODERATE 100% 79.9% 125 Asp125Asn TCGA-A5-A0G2
Uterine endometrial (UCEC) Missense variant MODERATE 100% 79.9% 125 Asp125Asn TCGA-BS-A0UM
Uterine endometrial (UCEC) Missense variant MODERATE 100% 69.3% 128 Asn128Ser TCGA-AP-A1DK
Bladder (BLCA) Missense variant MODERATE 100% 55.3% 132 Asp132Val TCGA-XF-A9T0
Melanoma (SKCM) Missense variant MODERATE 100% 32.4% 135 Pro135Ser TCGA-EE-A3JD