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Aliases for MAML1 Gene

Aliases for MAML1 Gene

  • Mastermind Like Transcriptional Coactivator 1 2 3 5
  • Mastermind Homolog 2 3
  • Mam-1 3 4
  • Mastermind (Drosophila)-Like 1 2
  • Mastermind-Like 1 (Drosophila) 2
  • Mastermind-Like Protein 1 3
  • Mastermind-Like 1 3
  • KIAA0200 4
  • 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. Among its related pathways are HIV Life Cycle and Notch signaling pathway (KEGG). 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 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAML1 Gene

Genomics for MAML1 Gene

Regulatory Elements for MAML1 Gene

Enhancers for MAML1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F179696 0.6 ENCODE 67.7 -33.9 -33906 4.9 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 MAML1 ZNF354B ZNF879 LOC105377763 ZNF454 CANX LOC100996419 MGAT4B LOC101928445 ZFP2
GH05F180669 0.5 Ensembl 36.7 +937.2 937247 1.7 HDGF PKNOX1 ZNF133 ARID4B YBX1 ZNF2 GATA2 ZNF143 ZNF207 KLF7 ZFP62 ENSG00000233937 MAML1 TRIM52 LOC100996419 CNOT6 GFPT2 TBC1D9B RN7SKP150 RACK1
GH05F179836 0.6 ENCODE 26.7 +104.3 104348 2.0 HDGF PKNOX1 MLX ARID4B DMAP1 ZNF48 RAD21 RARA SCRT2 CREM MRNIP MAML1 LOC101928445 LOC100996419 TBC1D9B MGAT4B SQSTM1 MIR1229 LTC4S CBY3
GH05F180089 1.1 FANTOM5 Ensembl ENCODE 26.4 +358.0 357963 2.2 ATF1 SIN3A GTF3C2 GLIS2 ZNF143 KLF7 KLF13 ZNF263 SP3 SP5 MAML1 RNF130 HNRNPH1 LOC646058 RASGEF1C
GH05F179817 0.2 ENCODE 24.7 +87.7 87710 6.5 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 MRNIP MAML1 TBC1D9B LOC100502572 LOC100289470 ENSG00000253652 ENSG00000250674 LOC100420514 OR2AI1P LOC100129457
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MAML1 on UCSC Golden Path with GeneCards custom track

Promoters for MAML1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001298298 450 2601 PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 YY1 FOS PAF1 ZNF263

Genomic Location for MAML1 Gene

Chromosome:
5
Start:
179,732,850 bp from pter
End:
179,796,511 bp from pter
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.
    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

Protein Domains for MAML1 Gene

Suggested Antigen Peptide Sequences for MAML1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for MAML1 Gene

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.

Gene Ontology (GO) - Molecular Function for MAML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity 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:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MAML1

Flow Cytometry Products

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
Jensen Localization Image for MAML1 Gene COMPARTMENTS Subcellular localization image for MAML1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 2

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

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006468 protein phosphorylation IDA 16510869
genes like me logo Genes that share ontologies with MAML1: view

Transcripts for MAML1 Gene

Unigene Clusters for MAML1 Gene

Mastermind-like 1 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MAML1

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MAML1 Gene

GeneLoc Exon Structure for
MAML1
ECgene alternative splicing isoforms for
MAML1

Expression for MAML1 Gene

mRNA expression in normal human tissues 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, PaxDb, MaxQB, and MOPED for MAML1 Gene



Protein tissue co-expression partners for MAML1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MAML1 Gene:

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.
genes like me logo Genes that share expression patterns with MAML1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 34 35
  • 99.18 (n)
cow
(Bos Taurus)
Mammalia MAML1 34 35
  • 87.3 (n)
dog
(Canis familiaris)
Mammalia MAML1 34 35
  • 86.43 (n)
mouse
(Mus musculus)
Mammalia Maml1 34 16 35
  • 85.42 (n)
rat
(Rattus norvegicus)
Mammalia Maml1 34
  • 84.4 (n)
oppossum
(Monodelphis domestica)
Mammalia MAML1 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAML1 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAML1 34 35
  • 67.32 (n)
lizard
(Anolis carolinensis)
Reptilia MAML1 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia maml1 34
  • 63.09 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC567335 34
  • 52.32 (n)
CT990569.2 35
  • 30 (a)
OneToOne
Species where no ortholog for MAML1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for MAML1 Gene

Paralogs for MAML1 Gene

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

Pseudogenes.org Pseudogenes for MAML1 Gene

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

Variants for MAML1 Gene

Sequence variations from dbSNP and Humsavar for MAML1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs193920768 Uncertain significance 179,766,173(+) CCCAG(G/T)AGGGG reference, missense
rs10039608 -- 179,765,204(+) TGGGA(A/G)TGTAC intron-variant
rs10045384 -- 179,765,484(+) CCAGC(C/T)TCCCC reference, synonymous-codon
rs10059303 -- 179,758,731(+) agcgc(A/G)gtggc intron-variant
rs10073225 -- 179,740,086(+) ATTGA(A/G)AGGCT intron-variant

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)

Relevant External Links for MAML1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAML1

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

Disorders for MAML1 Gene

Relevant External Links for MAML1

Genetic Association Database (GAD)
MAML1
Human Genome Epidemiology (HuGE) Navigator
MAML1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAML1

No disorders were found for MAML1 Gene.

No data available for MalaCards , 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. (Mol. Cell. Biol. 2001) 2 3 4 64
  2. MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors. (PMID: 11101851) Wu L. … Griffin J.D. (Nat. Genet. 2000) 2 3 4 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. The notch regulator MAML1 interacts with p53 and functions as a coactivator. (PMID: 17317671) Zhao Y. … Band V. (J. Biol. Chem. 2007) 3 4 64
  5. Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes. (PMID: 16530044) Nam Y. … Blacklow S.C. (Cell 2006) 3 4 64

Products for MAML1 Gene

Sources for MAML1 Gene

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