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... See more...

Aliases for MAML1 Gene

Aliases for MAML1 Gene

  • Mastermind Like Transcriptional Coactivator 1 2 3 5
  • Mam-1 2 3 4
  • Mastermind-Like Protein 1 3 4
  • Mastermind Homolog 2 3
  • KIAA0200 2 4
  • Mastermind (Drosophila)-Like 1 2
  • Mastermind-Like 1 (Drosophila) 2
  • Mastermind-Like 1 3
  • MAML1 5
  • Mam1 3

External Ids for MAML1 Gene

Previous GeneCards Identifiers for MAML1 Gene

  • GC05P179272
  • GC05P180103
  • GC05P179224
  • GC05P179269
  • GC05P179092
  • GC05P179159
  • GC05P173886

Summaries for MAML1 Gene

Entrez Gene Summary 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 Juxtacortical Chondrosarcoma and T-Cell Acute Lymphoblastic Leukemia. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Notch-mediated HES/HEY network. 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.

Gene Wiki entry for MAML1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAML1 Gene

Genomics for MAML1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAML1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAML1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAML1

Top Transcription factor binding sites by QIAGEN in the MAML1 gene promoter:
  • AML1a
  • AREB6
  • COMP1
  • Evi-1
  • Pax-5
  • POU2F1
  • POU2F1a
  • POU6F1 (c2)
  • Spz1

Genomic Locations for MAML1 Gene

Latest Assembly
chr5:179,732,822-179,777,283
(GRCh38/hg38)
Size:
44,462 bases
Orientation:
Plus strand

Previous Assembly
chr5:179,159,823-179,204,284
(GRCh37/hg19 by Entrez Gene)
Size:
44,462 bases
Orientation:
Plus strand

chr5:179,159,851-179,223,512
(GRCh37/hg19 by Ensembl)
Size:
63,662 bases
Orientation:
Plus strand

Genomic View for MAML1 Gene

Genes around MAML1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAML1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAML1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAML1 Gene

Proteins for MAML1 Gene

  • Protein details for MAML1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92585-MAML1_HUMAN
    Recommended name:
    Mastermind-like protein 1
    Protein Accession:
    Q92585
    Secondary Accessions:
    • Q9NZ12

    Protein attributes for MAML1 Gene

    Size:
    1016 amino acids
    Molecular mass:
    108054 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=BAA12114.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MAML1 Gene

neXtProt entry for MAML1 Gene

Post-translational modifications for MAML1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAML1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAML1 Gene

Domains & Families for MAML1 Gene

Gene Families for MAML1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAML1 Gene

Suggested Antigen Peptide Sequences for MAML1 Gene

GenScript: Design optimal peptide antigens:
  • Mastermind-like protein 1 (MAML1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92585

UniProtKB/Swiss-Prot:

MAML1_HUMAN :
  • The C-terminal region is required for transcriptional activation.
  • Belongs to the mastermind family.
Domain:
  • The C-terminal region is required for transcriptional activation.
Family:
  • Belongs to the mastermind family.
genes like me logo Genes that share domains with MAML1: view

Function for MAML1 Gene

Molecular function for MAML1 Gene

UniProtKB/Swiss-Prot Function:
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.

Phenotypes From GWAS Catalog for MAML1 Gene

Gene Ontology (GO) - Molecular Function for MAML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IBA,IDA 11101851
GO:0005515 protein binding IPI 11101851
GO:0019901 protein kinase binding IPI 15546612
GO:0042605 peptide antigen binding IPI 17317671
genes like me logo Genes that share ontologies with MAML1: view
genes like me logo Genes that share phenotypes with MAML1: view

Animal Models for MAML1 Gene

MGI Knock Outs for MAML1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAML1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAML1 Gene

Localization for MAML1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAML1 Gene

Nucleus speckle. Note=Nuclear, in a punctate manner.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAML1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MAML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002193 MAML1-RBP-Jkappa- ICN1 complex IDA 16510869
GO:0005634 nucleus IEA,IDA 9874765
GO:0005654 nucleoplasm TAS --
GO:0016607 nuclear speck IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with MAML1: view

Pathways & Interactions for MAML1 Gene

genes like me logo Genes that share pathways with MAML1: view

Pathways by source for MAML1 Gene

2 GeneGo (Thomson Reuters) pathways for MAML1 Gene
  • Development Notch Signaling Pathway
  • Development NOTCH1-mediated pathway for NF-KB activity modulation
2 R&D Systems pathways for MAML1 Gene
1 Qiagen pathway for MAML1 Gene
  • Notch Signaling
1 Cell Signaling Technology pathway for MAML1 Gene

SIGNOR curated interactions for MAML1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MAML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003162 atrioventricular node development ISS --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006468 protein phosphorylation IDA 16510869
GO:0007219 Notch signaling pathway TAS --
GO:0007221 positive regulation of transcription of Notch receptor target IEA,TAS --
genes like me logo Genes that share ontologies with MAML1: view

Drugs & Compounds for MAML1 Gene

No Compound Related Data Available

Transcripts for MAML1 Gene

mRNA/cDNA for MAML1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAML1

Alternative Splicing Database (ASD) splice patterns (SP) for MAML1 Gene

No ASD Table

Relevant External Links for MAML1 Gene

GeneLoc Exon Structure for
MAML1

Expression for MAML1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAML1 Gene

Protein differential expression in normal tissues from HIPED for MAML1 Gene

This gene is overexpressed in Bone marrow stromal cell (60.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAML1 Gene



Protein tissue co-expression partners for MAML1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAML1

SOURCE GeneReport for Unigene cluster for MAML1 Gene:

Hs.631951

mRNA Expression by UniProt/SwissProt for MAML1 Gene:

Q92585-MAML1_HUMAN
Tissue specificity: Widely expressed with highest levels in heart, pancreas, peripheral blood leukocytes and spleen.

Evidence on tissue expression from TISSUES for MAML1 Gene

  • Nervous system(3.6)
  • Skin(2.4)
  • Kidney(2.2)
  • Bone marrow(2.2)
  • Muscle(2.2)
  • Lung(2.2)
  • Intestine(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with MAML1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAML1 Gene

Orthologs for MAML1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAML1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MAML1 30 31
  • 99.18 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MAML1 30 31
  • 87.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MAML1 30 31
  • 86.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Maml1 30 17 31
  • 85.42 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Maml1 30
  • 84.4 (n)
Oppossum
(Monodelphis domestica)
Mammalia MAML1 31
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MAML1 31
  • 45 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MAML1 30 31
  • 67.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MAML1 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia maml1 30
  • 63.09 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC567335 30
  • 52.32 (n)
CT990569.2 31
  • 30 (a)
OneToOne
Species where no ortholog for MAML1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MAML1 Gene

ENSEMBL:
Gene Tree for MAML1 (if available)
TreeFam:
Gene Tree for MAML1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAML1: view image

Paralogs for MAML1 Gene

Paralogs for MAML1 Gene

(2) SIMAP similar genes for MAML1 Gene using alignment to 1 proteins:

  • MAML1_HUMAN

Pseudogenes.org Pseudogenes for MAML1 Gene

genes like me logo Genes that share paralogs with MAML1: view

Variants for MAML1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAML1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs113636707 Likely Benign: not provided 179,765,579(+) G/A
NM_014757.5(MAML1):c.569G>A (p.Arg190His)
MISSENSE
rs116011870 Benign: not provided 179,773,896(+) G/A
NM_014757.5(MAML1):c.2070G>A (p.Gly690=)
SYNONYMOUS
rs193920768 Uncertain Significance: Malignant tumor of prostate 179,766,173(+) G/T
NM_014757.5(MAML1):c.1163G>T (p.Gly388Val)
MISSENSE
rs61748799 Benign: not provided 179,766,384(+) C/T
NM_014757.5(MAML1):c.1374C>T (p.Asp458=)
SYNONYMOUS
rs61748800 Benign: not provided 179,774,539(+) C/G
NM_014757.5(MAML1):c.2713C>G (p.Pro905Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAML1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MAML1 Gene

Variant ID Type Subtype PubMed ID
esv3607752 CNV loss 21293372
nsv1117430 CNV tandem duplication 24896259
nsv1140593 CNV deletion 24896259
nsv469579 CNV loss 16826518
nsv476311 CNV novel sequence insertion 20440878
nsv518964 CNV loss 19592680
nsv823360 CNV gain 20364138
nsv830560 CNV loss 17160897

Variation tolerance for MAML1 Gene

Residual Variation Intolerance Score: 69.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.66; 78.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAML1 Gene

Human Gene Mutation Database (HGMD)
MAML1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAML1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAML1 Gene

Disorders for MAML1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MAML1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
juxtacortical chondrosarcoma
t-cell acute lymphoblastic leukemia
  • acute t cell leukaemia
epidermodysplasia verruciformis 1
  • epidermodysplasia verruciformis, susceptibility to, 1
alagille syndrome 1
  • algs1
- elite association - COSMIC cancer census association via MalaCards
Search MAML1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MAML1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MAML1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAML1 Gene

Publications for MAML1 Gene

  1. A human protein with sequence similarity to Drosophila mastermind coordinates the nuclear form of notch and a CSL protein to build a transcriptional activator complex on target promoters. (PMID: 11390662) Kitagawa M … Harigaya K (Molecular and cellular biology 2001) 2 3 4
  2. MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors. (PMID: 11101851) Wu L … Griffin JD (Nature genetics 2000) 2 3 4
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. The notch regulator MAML1 interacts with p53 and functions as a coactivator. (PMID: 17317671) Zhao Y … Band V (The Journal of biological chemistry 2007) 3 4
  5. Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes. (PMID: 16530044) Nam Y … Blacklow SC (Cell 2006) 3 4

Products for MAML1 Gene

Sources for MAML1 Gene