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Aliases for MAML1 Gene

Aliases for MAML1 Gene

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

External Ids for MAML1 Gene

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 1 (Drosophila)) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include protein kinase binding and peptide antigen binding. An important paralog of this gene is MAML2.

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

Genomic Location for MAML1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAML1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAML1 Gene

Regulatory Elements 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

Proteomics data for MAML1 Gene at MOPED

Post-translational modifications for MAML1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAML1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MAML1 Gene

Domains for MAML1 Gene

Protein Domains for MAML1 Gene

UniProtKB/Swiss-Prot:

MAML1_HUMAN
Domain:
  • The C-terminal region is required for transcriptional activation.:
    • Q92585
Family:
  • Belongs to the mastermind family.:
    • Q92585
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:

miRNA for MAML1 Gene

miRTarBase miRNAs that target MAML1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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

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 IDA 11101851
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 for MAML1 Gene

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

Pathways by source for MAML1 Gene

2 GeneGo (Thomson Reuters Life Sciences Research) pathways for MAML1 Gene
1 R&D Systems pathway for MAML1 Gene
1 Qiagen pathway for MAML1 Gene
1 Cell Signaling Technology pathway for MAML1 Gene

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 --
genes like me logo Genes that share ontologies with MAML1: view

Transcripts for MAML1 Gene

mRNA/cDNA for MAML1 Gene

Unigene Clusters for MAML1 Gene

Mastermind-like 1 (Drosophila):
Representative Sequences:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MAML1 Gene

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 expressions with MAML1: view

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 36
  • 99.18 (n)
  • 98.92 (a)
MAML1 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAML1 36
  • 87.3 (n)
  • 88.92 (a)
MAML1 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAML1 36
  • 86.43 (n)
  • 87.69 (a)
MAML1 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Maml1 36
  • 85.42 (n)
  • 85.69 (a)
Maml1 16
Maml1 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAML1 37
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAML1 37
  • 45 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Maml1 36
  • 84.4 (n)
  • 84.95 (a)
chicken
(Gallus gallus)
Aves MAML1 36
  • 67.32 (n)
  • 62.36 (a)
MAML1 37
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAML1 37
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia maml1 36
  • 63.09 (n)
  • 57.77 (a)
zebrafish
(Danio rerio)
Actinopterygii CT990569.2 37
  • 30 (a)
OneToOne
LOC567335 36
  • 52.32 (n)
  • 43.04 (a)
Species with no ortholog for MAML1:
  • 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

Selected 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 MAF
rs6627 -- 179,776,932(+) GCCAC(A/C/G)ACTCA utr-variant-3-prime
rs545136 -- 179,777,447(-) CCCAC(C/T)CAACA downstream-variant-500B
rs1803458 -- 179,776,679(+) TCCTC(G/T)CCTGA utr-variant-3-prime
rs1803459 -- 179,776,963(+) TTTTG(A/T)TATAC utr-variant-3-prime
rs2112164 -- 179,746,498(+) cctcc(C/T)gagta intron-variant

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

Variant ID Type Subtype PubMed ID
nsv883270 CNV Loss 21882294
nsv830560 CNV Loss 17160897
nsv823360 CNV Gain 20364138
nsv483062 CNV Loss 15286789
nsv469579 CNV Loss 16826518
dgv6400n71 CNV Loss 21882294
nsv518964 CNV Loss 19592680
nsv883275 CNV Loss 21882294

Relevant External Links for MAML1 Gene

HapMap Linkage Disequilibrium report
MAML1

Disorders for MAML1 Gene

Relevant External Links for MAML1

Genetic Association Database (GAD)
MAML1
Human Genome Epidemiology (HuGE) Navigator
MAML1
genes like me logo Genes that share disorders with MAML1: view

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

Publications for MAML1 Gene

  1. 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
  2. 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
  3. p300 and PCAF act cooperatively to mediate transcriptional activation from chromatin templates by notch intracellular domains in vitro. (PMID: 12391150) Wallberg A.E. … Roeder R.G. (Mol. Cell. Biol. 2002) 3 23
  4. Mastermind mediates chromatin-specific transcription and turnover of the Notch enhancer complex. (PMID: 12050117) Fryer C.J. … Jones K.A. (Genes Dev. 2002) 3 4
  5. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8724849) Nagase T. … Nomura N. (DNA Res. 1996) 3 4

Products for MAML1 Gene

Sources for MAML1 Gene

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