MAML1 Gene

Name	mastermind-like 1 (Drosophila)
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Mastermind‐like 1 (MAML1) is a critical transcriptional coactivator that functions in canonical Notch signaling by bridging the Notch intracellular domain (ICN) and the DNA‐binding protein CSL to form a ternary complex that drives expression of Notch target genes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Structural studies have revealed that CSL and ICN create a specific groove that accommodates MAML1 in a defined kinked helical conformation, thereby ensuring precise recruitment of the transcriptional machinery. The indispensable role of MAML1 is highlighted by experiments employing dominant‐negative forms of MAML1; these inhibitors block Notch transcriptional activation and, as a consequence, disrupt key developmental and proliferative processes, such as T cell differentiation and leukemic cell growth."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "5"}]}, {"type": "t", "text": " In the context of chromatin, MAML1 synergizes with additional coactivators—such as p300 and PCAF—to promote histone acetylation and robust transcription of Notch target genes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Furthermore, alterations in MAML1 function have pathological consequences; for instance, papillomavirus E6 oncoproteins can bind an acidic LXXLL motif on MAML1 to repress its transactivation potential, thereby perturbing normal Notch‐dependent differentiation programs."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Finally, during neurogenesis a cell fate transition is associated with a reconfiguration of Notch transcriptional complexes, where the displacement of MAML1 by factors such as BCL6 results in epigenetic silencing of Hes5 and promotes neuronal differentiation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Collectively, these findings underscore that MAML1 is a pivotal integrator of Notch signaling and chromatin remodeling, thereby governing critical cellular decision‐making processes in development and disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yunsun Nam, Piotr Sliz, Luyan Song, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2005.12.037"}], "href": "https://doi.org/10.1016/j.cell.2005.12.037"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16530044"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16530044"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yunsun Nam, Andrew P Weng, Jon C Aster, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural requirements for assembly of the CSL.intracellular Notch1.Mastermind-like 1 transcriptional activation complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M301567200"}], "href": "https://doi.org/10.1074/jbc.M301567200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12644465"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12644465"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Andrew P Weng, Yunsun Nam, Michael S Wolfe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Growth suppression of pre-T acute lymphoblastic leukemia cells by inhibition of notch signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.23.2.655-664.2003"}], "href": "https://doi.org/10.1128/MCB.23.2.655-664.2003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12509463"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12509463"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ivan Maillard, Andrew P Weng, Andrea C Carpenter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mastermind critically regulates Notch-mediated lymphoid cell fate decisions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2004-02-0514"}], "href": "https://doi.org/10.1182/blood-2004-02-0514"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15187027"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15187027"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ivan Maillard, LiLi Tu, Arivazhagan Sambandam, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The requirement for Notch signaling at the beta-selection checkpoint in vivo is absolute and independent of the pre-T cell receptor."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Exp Med (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1084/jem.20061020"}], "href": "https://doi.org/10.1084/jem.20061020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16966428"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16966428"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Annika E Wallberg, Kia Pedersen, Urban Lendahl, et al. "}, {"type": "b", "children": [{"type": "t", "text": "p300 and PCAF act cooperatively to mediate transcriptional activation from chromatin templates by notch intracellular domains in vitro."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.22.22.7812-7819.2002"}], "href": "https://doi.org/10.1128/MCB.22.22.7812-7819.2002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12391150"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12391150"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "N Brimer, C Lyons, A E Wallberg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cutaneous papillomavirus E6 oncoproteins associate with MAML1 to repress transactivation and NOTCH signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/onc.2011.589"}], "href": "https://doi.org/10.1038/onc.2011.589"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22249263"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22249263"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Luca Tiberi, Jelle van den Ameele, Jordane Dimidschstein, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BCL6 controls neurogenesis through Sirt1-dependent epigenetic repression of selective Notch targets."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Neurosci (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nn.3264"}], "href": "https://doi.org/10.1038/nn.3264"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23160044"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23160044"}]}]}]}
Synonyms	MAM1, MAM-1
Proteins	MAML1_HUMAN
NCBI Gene ID	9794
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

MAML1 has 6,236 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 124 datasets.

Click the + buttons to view associations for MAML1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

MAML1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MAML1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of MAML1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of MAML1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of MAML1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MAML1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of MAML1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MAML1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MAML1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of MAML1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of MAML1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with MAML1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with MAML1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with MAML1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MAML1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of MAML1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of MAML1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of MAML1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing MAML1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing MAML1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing MAML1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing MAML1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with MAML1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with MAML1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing MAML1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of MAML1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with MAML1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with MAML1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with MAML1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of MAML1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by MAML1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with MAML1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with MAML1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with MAML1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with MAML1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at MAML1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MAML1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of MAML1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing MAML1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD High Level Gene-Disease Associations	diseases associated with MAML1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of MAML1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.