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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
  • Mastermind-Like Transcriptional Coactivator 3 3
  • Expanded Repeat Domain, CAG/CTG 3 3
  • Mastermind (Drosophila)-Like 3 2
  • Mastermind-Like 3 (Drosophila) 2
  • 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. Diseases associated with MAML3 include malignant triton tumor. Among its related pathways are Notch signaling pathway (KEGG) and Notch Signaling Pathways. 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 , 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around MAML3 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for MAML3 Gene at MOPED

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.
genes like me logo Genes that share phenotypes with MAML3: view

Animal Models for MAML3 Gene

MGI Knock Outs for MAML3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for MAML3 Gene 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:0005654 nucleoplasm TAS --
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

Pathways by source for MAML3 Gene

1 R&D Systems pathway for MAML3 Gene
1 Qiagen pathway for MAML3 Gene

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:0007219 Notch signaling pathway IEA,TAS --
GO:0007221 positive regulation of transcription of Notch receptor target IBA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA,IDA 12370315
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:

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 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



SOURCE GeneReport for Unigene cluster for MAML3 Gene Hs.586165

genes like me logo Genes that share expression patterns with MAML3: view

Protein tissue co-expression partners for MAML3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia MAML3 35
  • 87.82 (n)
  • 90.52 (a)
MAML3 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAML3 35
  • 86.62 (n)
  • 89.05 (a)
MAML3 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Maml3 35
  • 86.04 (n)
  • 88.27 (a)
Maml3 16
Maml3 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAML3 35
  • 99.56 (n)
  • 99.73 (a)
MAML3 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Maml3 35
  • 86.02 (n)
  • 88.94 (a)
oppossum
(Monodelphis domestica)
Mammalia MAML3 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAML3 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAML3 35
  • 78.77 (n)
  • 79.12 (a)
MAML3 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAML3 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia maml3 35
  • 69.96 (n)
  • 67.93 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101886283 35
  • 64.77 (n)
  • 59.68 (a)
maml3 36
  • 47 (a)
OneToOne
Species with no ortholog for MAML3:
  • 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
rs2153 -- 139,751,139(+) AATAA(C/T)AAAAT intron-variant
rs795969 -- 139,855,867(-) TAGGA(A/G)GCATA intron-variant
rs795970 -- 139,855,303(-) ATCTT(A/G)CTGCA intron-variant
rs795971 -- 139,854,974(-) GCACA(G/T)GGCTG intron-variant
rs795972 -- 139,877,094(+) GGATA(C/T)AATTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv525242 CNV Loss 19592680
nsv290100 CNV Loss 16902084
esv2728428 CNV Deletion 23290073
esv2131682 CNV Deletion 18987734
esv2728430 CNV Deletion 23290073
esv2728431 CNV Deletion 23290073
esv2728432 CNV Deletion 23290073
esv260048 OTHER Complex 20981092
nsv291396 CNV Loss 16902084
nsv830087 CNV Gain 17160897
esv273356 CNV Insertion 20981092
esv269496 CNV Insertion 20981092
esv272206 CNV Insertion 20981092
esv272038 CNV Insertion 20981092
nsv292145 CNV Loss 16902084
nsv822749 CNV Loss 20364138
esv2728433 CNV Deletion 23290073
esv2662572 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
MAML3

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

Disorders for MAML3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MAML3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
malignant triton tumor
  • malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma
- elite association - COSMIC cancer census association via MalaCards
Search MAML3 in MalaCards View complete list of genes associated with diseases

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

No data available for 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 67
  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
  3. Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD. (PMID: 25234806) Dijkstra A.E. … Postma D.S. (Eur. Respir. J. 2015) 3
  4. A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. (PMID: 23708190) Hu Z. … Shen H. (Nat. Genet. 2013) 3
  5. NOTCH1 nuclear interactome reveals key regulators of its transcriptional activity and oncogenic function. (PMID: 23022380) Yatim A. … Benkirane M. (Mol. Cell 2012) 3

Products for MAML3 Gene

Sources for MAML3 Gene

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