Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MAML3 Gene

Aliases for MAML3 Gene

  • Mastermind Like Transcriptional Coactivator 3 2 3 5
  • Trinucleotide Repeat Containing 3 2 3
  • MAM-3 3 4
  • CAG Repeat Containing (Glia-Derived Nexin I Alpha) 3
  • Expanded Repeat Domain, CAG/CTG 3 3
  • Mastermind (Drosophila)-Like 3 2
  • Mastermind-Like 3 (Drosophila) 2
  • Mastermind-Like Protein 3 3
  • Polyglutamine Rich 3
  • CAG Repeat Domain 3
  • Mastermind-Like 3 3
  • KIAA1816 4
  • Mam-2 3
  • CAGH3 3
  • ERDA3 3
  • TNRC3 3
  • MAM2 3
  • GDN 3

External Ids for MAML3 Gene

Previous HGNC Symbols for MAML3 Gene

  • TNRC3

Previous GeneCards Identifiers for MAML3 Gene

  • GC04U900023
  • GC04M141105
  • GC04M141217
  • GC04M141216
  • GC04M140996
  • GC04M140856
  • GC04M140637
  • GC04M136366

Summaries for MAML3 Gene

GeneCards Summary for MAML3 Gene

MAML3 (Mastermind Like Transcriptional Coactivator 3) is a Protein Coding gene. Among its related pathways are Signaling by NOTCH1 and Notch signaling pathway (KEGG). GO annotations related to this gene include transcription coactivator activity. An important paralog of this gene is MAML1.

UniProtKB/Swiss-Prot for MAML3 Gene

  • Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAML3 Gene

Genomics for MAML3 Gene

Regulatory Elements for MAML3 Gene

Enhancers for MAML3 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
GH04G140087 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.2 +59.8 59760 14.5 PKNOX1 ATF1 FEZF1 BRCA1 ZNF2 GATA2 FOS ZNF263 TSHZ1 REST MAML3 LOC101927516 GC04M140002
GH04G139871 1.3 FANTOM5 Ensembl ENCODE 29.2 +281.4 281402 2.4 ELF3 SAP130 JUN CEBPG RAD21 RARA FOS ZNF652 HOMEZ GATAD2A MAML3 SCOC GC04M139789 LOC105377452
GH04G140250 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.7 -100.3 -100281 7.5 PKNOX1 SIN3A ZNF121 ZNF766 GLIS2 GATA2 ZNF143 FOS SMARCA4 GLIS1 MAML3 LOC101927516 ELMOD2 SCOC
GH04G140764 0.9 ENCODE 27.2 -610.8 -610808 0.1 PKNOX1 ZNF493 ZEB1 ZNF121 ZNF138 ZNF354C KLF7 ZNF202 ZBTB11 NFYC MAML3 ELMOD2 ENSG00000248335 SCOC-AS1 TNRC18P1 ENSG00000273472 ENSG00000222613
GH04G140242 1.5 FANTOM5 Ensembl ENCODE dbSUPER 15.6 -89.3 -89280 2.5 HDGF PKNOX1 ZSCAN4 FEZF1 ATF2 ZNF518A RELA OSR2 PRDM6 ZNF366 MAML3 LOC101927516 SCOC
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAML3 on UCSC Golden Path with GeneCards custom track

Promoters for MAML3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000173832 1784 4801 HNRNPUL1 PKNOX1 FOXA2 MLX ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for MAML3 Gene

Chromosome:
4
Start:
139,716,391 bp from pter
End:
140,154,184 bp from pter
Size:
437,794 bases
Orientation:
Minus strand

Genomic View for MAML3 Gene

Genes around MAML3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAML3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAML3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAML3 Gene

Proteins for MAML3 Gene

  • Protein details for MAML3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JK9-MAML3_HUMAN
    Recommended name:
    Mastermind-like protein 3
    Protein Accession:
    Q96JK9
    Secondary Accessions:
    • B2RNU9
    • B3KVV7
    • E7EVW8

    Protein attributes for MAML3 Gene

    Size:
    1138 amino acids
    Molecular mass:
    122293 Da
    Quaternary structure:
    • Interacts through its N-terminal region with the ankyrin repeat region of the Notch proteins NOTCH1, NOTCH2, NOTCH3 and NOTCH4. Forms a DNA-binding complex with Notch proteins and RBPSUH/RBP-J kappa.
    SequenceCaution:
    • Sequence=BAB47445.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG53919.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for MAML3 Gene

Post-translational modifications for MAML3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAML3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAML3 Gene

Domains & Families for MAML3 Gene

Gene Families for MAML3 Gene

Protein Domains for MAML3 Gene

Suggested Antigen Peptide Sequences for MAML3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96JK9

UniProtKB/Swiss-Prot:

MAML3_HUMAN :
  • The C-terminal domain is required for transcriptional activation.
  • Belongs to the mastermind family.
Domain:
  • The C-terminal domain is required for transcriptional activation.
Family:
  • Belongs to the mastermind family.
genes like me logo Genes that share domains with MAML3: view

Function for MAML3 Gene

Molecular function for MAML3 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1.

Gene Ontology (GO) - Molecular Function for MAML3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IDA 12370315
genes like me logo Genes that share ontologies with MAML3: view
genes like me logo Genes that share phenotypes with MAML3: view

Animal Models for MAML3 Gene

MGI Knock Outs for MAML3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAML3 Gene

Localization for MAML3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAML3 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 MAML3 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MAML3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 12370315
GO:0005654 nucleoplasm TAS --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with MAML3: view

Pathways & Interactions for MAML3 Gene

genes like me logo Genes that share pathways with MAML3: view

SIGNOR curated interactions for MAML3 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MAML3 Gene

GO ID Qualified GO term Evidence PubMed IDs
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:0007219 Notch signaling pathway TAS --
GO:0007221 positive regulation of transcription of Notch receptor target IBA --
genes like me logo Genes that share ontologies with MAML3: view

Drugs & Compounds for MAML3 Gene

No Compound Related Data Available

Transcripts for MAML3 Gene

mRNA/cDNA for MAML3 Gene

Unigene Clusters for MAML3 Gene

Mastermind-like 3 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAML3 Gene

No ASD Table

Relevant External Links for MAML3 Gene

GeneLoc Exon Structure for
MAML3
ECgene alternative splicing isoforms for
MAML3

Expression for MAML3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAML3 Gene

Protein differential expression in normal tissues from HIPED for MAML3 Gene

This gene is overexpressed in Colon muscle (51.2) and Bone marrow mesenchymal stem cell (16.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MAML3 Gene



Protein tissue co-expression partners for MAML3 Gene

NURSA nuclear receptor signaling pathways regulating expression of MAML3 Gene:

MAML3

SOURCE GeneReport for Unigene cluster for MAML3 Gene:

Hs.586165

Evidence on tissue expression from TISSUES for MAML3 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with MAML3: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAML3 Gene

Orthologs for MAML3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAML3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAML3 34 35
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia MAML3 34 35
  • 87.82 (n)
dog
(Canis familiaris)
Mammalia MAML3 34 35
  • 86.62 (n)
mouse
(Mus musculus)
Mammalia Maml3 34 16 35
  • 86.04 (n)
rat
(Rattus norvegicus)
Mammalia Maml3 34
  • 86.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAML3 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAML3 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAML3 34 35
  • 78.77 (n)
lizard
(Anolis carolinensis)
Reptilia MAML3 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia maml3 34
  • 69.96 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101886283 34
  • 64.77 (n)
maml3 35
  • 47 (a)
OneToOne
Species where no ortholog for MAML3 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 MAML3 Gene

ENSEMBL:
Gene Tree for MAML3 (if available)
TreeFam:
Gene Tree for MAML3 (if available)

Paralogs for MAML3 Gene

Paralogs for MAML3 Gene

(3) SIMAP similar genes for MAML3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MAML3: view

Variants for MAML3 Gene

Sequence variations from dbSNP and Humsavar for MAML3 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000002789 -- 139,761,106(+) GGCAC(A/G)CATCA intron-variant
rs1000011223 -- 140,027,305(+) CTCTT(G/T)AGAAT intron-variant
rs1000013561 -- 139,852,413(+) TTTTT(G/T)TTTTT intron-variant
rs1000015368 -- 140,071,897(+) GGCTG(C/G)TGTGG intron-variant
rs1000017332 -- 139,983,967(+) GTTTA(A/G)TGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAML3 Gene

Variant ID Type Subtype PubMed ID
dgv1030e214 CNV gain 21293372
esv2131682 CNV deletion 18987734
esv2662572 CNV deletion 23128226
esv2728428 CNV deletion 23290073
esv2728430 CNV deletion 23290073
esv2728431 CNV deletion 23290073
esv2728432 CNV deletion 23290073
esv2728433 CNV deletion 23290073
esv3303074 CNV tandem duplication 20981092
esv3305218 CNV mobile element insertion 20981092
esv3350274 CNV insertion 20981092
esv3387295 CNV insertion 20981092
esv3400863 CNV insertion 20981092
esv3449073 CNV insertion 20981092
esv3602439 CNV gain 21293372
esv3602440 CNV gain 21293372
esv3602444 CNV loss 21293372
esv3602447 CNV loss 21293372
esv3602448 CNV loss 21293372
esv3602449 OTHER inversion 21293372
esv3894041 CNV gain 25118596
nsv1017456 CNV gain 25217958
nsv1019522 CNV loss 25217958
nsv1074756 CNV deletion 25765185
nsv1125244 CNV insertion 24896259
nsv1125823 CNV tandem duplication 24896259
nsv1128102 CNV deletion 24896259
nsv290100 CNV deletion 16902084
nsv291396 CNV deletion 16902084
nsv292145 CNV deletion 16902084
nsv472268 CNV novel sequence insertion 20440878
nsv475277 CNV novel sequence insertion 20440878
nsv477694 CNV novel sequence insertion 20440878
nsv525242 CNV loss 19592680
nsv822749 CNV loss 20364138
nsv830087 CNV gain 17160897

Variation tolerance for MAML3 Gene

Residual Variation Intolerance Score: 83.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.56; 77.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAML3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAML3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAML3 Gene

Disorders for MAML3 Gene

Relevant External Links for MAML3

Genetic Association Database (GAD)
MAML3
Human Genome Epidemiology (HuGE) Navigator
MAML3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAML3

No disorders were found for MAML3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAML3 Gene

Publications for MAML3 Gene

  1. Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. (PMID: 12370315) Wu L. … Griffin J.D. (Mol. Cell. Biol. 2002) 2 3 4 64
  2. Identification of new human mastermind proteins defines a family that consists of positive regulators for Notch signaling. (PMID: 12386158) Lin S.-E. … Kitagawa M. (J. Biol. Chem. 2002) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 3 4 64

Products for MAML3 Gene

Sources for MAML3 Gene

Content
Loading form....