MAML1 (mastermind like transcriptional coactivator 1)

2007-04-01  

Identity

HGNC
LOCATION
5q35.3
LOCUSID
ALIAS
Mam-1,Mam1
FUSION GENES

Other Information

Locus ID:

NCBI: 9794
MIM: 605424
HGNC: 13632
Ensembl: ENSG00000161021

Variants:

dbSNP: 9794
ClinVar: 9794
TCGA: ENSG00000161021
COSMIC: MAML1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161021ENST00000292599Q92585

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Notch signaling pathwayKEGGko04330
Notch signaling pathwayKEGGhsa04330
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by NOTCH1 in CancerREACTOMER-HSA-2644603
Signaling by NOTCH1 PEST Domain Mutants in CancerREACTOMER-HSA-2644602
Constitutive Signaling by NOTCH1 PEST Domain MutantsREACTOMER-HSA-2644606
Signaling by NOTCH1 HD+PEST Domain Mutants in CancerREACTOMER-HSA-2894858
Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsREACTOMER-HSA-2894862
Signal TransductionREACTOMER-HSA-162582
Signaling by NOTCHREACTOMER-HSA-157118
Pre-NOTCH Expression and ProcessingREACTOMER-HSA-1912422
Pre-NOTCH Transcription and TranslationREACTOMER-HSA-1912408
Signaling by NOTCH1REACTOMER-HSA-1980143
NOTCH1 Intracellular Domain Regulates TranscriptionREACTOMER-HSA-2122947
Signaling by NOTCH2REACTOMER-HSA-1980145
NOTCH2 intracellular domain regulates transcriptionREACTOMER-HSA-2197563
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Notch-HLH transcription pathwayREACTOMER-HSA-350054
Th1 and Th2 cell differentiationKEGGko04658
Th1 and Th2 cell differentiationKEGGhsa04658

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
155466122004Mastermind recruits CycC:CDK8 to phosphorylate the Notch ICD and coordinate activation with turnover.203
165300442006Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes.179
120501172002Mastermind mediates chromatin-specific transcription and turnover of the Notch enhancer complex.116
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
126444652003Structural requirements for assembly of the CSL.intracellular Notch1.Mastermind-like 1 transcriptional activation complex.76
198382102010Notch-1 activates estrogen receptor-alpha-dependent transcription via IKKalpha in breast cancer cells.59
222492632012Cutaneous papillomavirus E6 oncoproteins associate with MAML1 to repress transactivation and NOTCH signaling.51
233654522013The human papillomavirus type 8 E6 protein interferes with NOTCH activation during keratinocyte differentiation.37
223257812012Conformational locking upon cooperative assembly of notch transcription complexes.33
173176712007The notch regulator MAML1 interacts with p53 and functions as a coactivator.31

Citation

Dessen P

MAML1 (mastermind like transcriptional coactivator 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47260/maml1