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
External Ids for MAML3 Gene
- HGNC: 16272
- Entrez Gene: 55534
- Ensembl: ENSG00000196782
- OMIM: 608991
- UniProtKB: Q96JK9
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 Schneiderian Carcinoma and Cellular Schwannoma. Among its related pathways are Gene Expression and Notch signaling pathway (KEGG). Gene Ontology (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.
Additional gene information for MAML3 Gene
- Monarch Initiative
- Search for MAML3 at DataMed
- Search for MAML3 at HumanCyc
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
GeneHancer (GH) Regulatory Elements for MAML3 Gene
Promoters and enhancers for MAML3 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 MAML3 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MAML3 gene promoter:
-
- FOXF2
- c-Ets-1
- Elk-1
- HTF
- Lmo2
- FOXO1a
- FOXO1
- YY1
- CREB
Regulatory Element Products
Genomic Locations for MAML3 Gene
Genomic Locations for MAML3 Gene
- chr4:139,716,391-140,154,184
- (GRCh38/hg38)
- Size:
- 437,794 bases
- Orientation:
- Minus strand
- chr4:140,637,545-141,075,338
- (GRCh37/hg19)
- 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:
-
- 4q31.1 by Entrez Gene
- 4q31.1 by HGNC
- 4q31.1 by Ensembl
MAML3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for MAML3 Gene
Post-translational modifications for MAML3 Gene
Other Protein References for MAML3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for MAML3
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-
Abcam antibodies for MAML3
- Invitrogen Antibodies for MAML3 (AFLGC-MAML3)
- GeneTex MAML3 Antibody for MAML3
-
Boster Bio Antibodies for MAML3
-
Santa Cruz Biotechnology (SCBT) Antibodies for MAML3
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MAML3
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- Search GeneTex for Proteins for MAML3
-
Abcam proteins for MAML3
Assay Products
No data available for DME Specific Peptides for MAML3 Gene
Domains & Families for MAML3 Gene
Gene Families for MAML3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for MAML3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MAML3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96JK9UniProtKB/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.
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.
Phenotypes From GWAS Catalog for MAML3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003713 | transcription coactivator activity | IDA | 12370315 |
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for MAML3 Gene
- MGI mutant phenotypes for MAML3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MAML3:
-
- Decreased viability with cisplatin
- Decreased viability
- no effect
- Decreased Aire reporter expression
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Decreased NF-kappaB reporter expression
- Decreased IL-8 secretion
- Increased transferrin (TF) endocytosis
- Lamellipodia cells
Animal Models for MAML3 Gene
- MGI Knock Outs for MAML3:
-
- Maml3 Maml3<tm1Mkit>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MAML3
-
CRISPR Products
-
OriGene CRISPR knockouts for MAML3
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- genomics-online: gRNA clones - Search results for 121 available MAML3 gene related products
- Overview of 121 available MAML3 gene related products
- Applied Biological Materials CRISPR for MAML3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAML3
- GenScript: Design CRISPR guide RNA sequences for MAML3
miRNA for MAML3 Gene
- miRTarBase miRNAs that target MAML3
-
- hsa-mir-3682-3p (MIRT508432)
- hsa-mir-4424 (MIRT508433)
- hsa-mir-4679 (MIRT508434)
- hsa-mir-1273g-3p (MIRT508435)
- hsa-mir-1272 (MIRT508436)
- hsa-mir-1255b-2-3p (MIRT508437)
- hsa-mir-4477b (MIRT536190)
- hsa-mir-5684 (MIRT536191)
- hsa-mir-651-3p (MIRT536192)
- hsa-mir-548c-3p (MIRT536193)
- hsa-mir-452-3p (MIRT547534)
- hsa-mir-576-3p (MIRT547535)
- hsa-mir-539-3p (MIRT547536)
- hsa-mir-485-3p (MIRT547537)
- hsa-mir-101-3p (MIRT547538)
- hsa-mir-144-3p (MIRT547539)
- hsa-mir-499a-3p (MIRT790659)
- hsa-mir-499b-3p (MIRT790661)
- hsa-mir-505-3p (MIRT790682)
- hsa-mir-5696 (MIRT790780)
- hsa-mir-579-3p (MIRT790795)
- hsa-mir-664b-3p (MIRT790876)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAML3
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- genomics-online: shRNA clones - Search results for 121 available MAML3 gene related products
- Overview of 121 available MAML3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MAML3
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- Applied Biological Materials Clones for MAML3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MAML3
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
- Nuclear speckles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 12370315 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0016607 | nuclear speck | IDA | -- |
Pathways & Interactions for MAML3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by NOTCH1 | ||
| 2 | Notch signaling pathway (KEGG) |
.30
|
|
| 3 | Pre-NOTCH Expression and Processing | ||
| 4 | HIV Life Cycle |
.45
|
|
| 5 | Gene Expression |
.48
|
|
Pathways by source for MAML3 Gene
4 BioSystems pathways for MAML3 Gene
18 Reactome pathways for MAML3 Gene
3 KEGG pathways for MAML3 Gene
1 R&D Systems pathway for MAML3 Gene
1 Qiagen pathway for MAML3 Gene
Interacting Proteins for MAML3 Gene
GPS-Prot Interaction Network for MAML3
SIGNOR curated interactions 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 | TAS,IBA | -- |
Transcripts for MAML3 Gene
mRNA/cDNA for MAML3 Gene
- (1) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (85) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000509479 6844 bps (uc062zte.1)
- ENST00000502696 559 bps (uc062ztf.1)
- ENST00000398940 831 bps (uc062ztg.1)
Unigene Clusters for MAML3 Gene
- Mastermind-like 3 (Drosophila):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MAML3
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- genomics-online: gRNA clones - Search results for 121 available MAML3 gene related products
- Overview of 121 available MAML3 gene related products
- Applied Biological Materials CRISPR for MAML3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAML3
- GenScript: Design CRISPR guide RNA sequences for MAML3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAML3
- Browse OriGene Inhibitory RNA Products For MAML3
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- genomics-online: shRNA clones - Search results for 121 available MAML3 gene related products
- Overview of 121 available MAML3 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MAML3
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- Applied Biological Materials Clones for MAML3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for MAML3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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 and MOPED for MAML3 Gene
NURSA nuclear receptor signaling pathways regulating expression of MAML3 Gene:
MAML3SOURCE GeneReport for Unigene cluster for MAML3 Gene:
Hs.586165Evidence on tissue expression from TISSUES for MAML3 Gene
- Nervous system(4.2)
Primer Products
-
OriGene qPCR primer pairs for MAML3
- genomics-online: primer clones - Search results for 121 available MAML3 gene related products
- Overview of 121 available MAML3 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MAML3 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MAML3 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MAML3 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Maml3 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Maml3 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | MAML3 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | MAML3 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MAML3 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MAML3 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | maml3 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC101886283 33 |
|
||
| maml3 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for MAML3: view image
Paralogs for MAML3 Gene
Variants for MAML3 Gene
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000002789 | -- | 139,761,106(-) | G/A | intron_variant | |
| rs1000011223 | -- | 140,027,305(-) | T/G | intron_variant | |
| rs1000013561 | -- | 139,852,413(-) | T/G | intron_variant | |
| rs1000015368 | -- | 140,071,897(-) | G/C | intron_variant | |
| rs1000017332 | -- | 139,983,967(-) | A/G | intron_variant |
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)
Additional Variant Information for MAML3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- MAML3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAML3 Gene
Disorders for MAML3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| schneiderian carcinoma |
|
|
| cellular schwannoma |
|
|
Search MAML3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for MAML3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for MAML3 Gene
Publications for MAML3 Gene
- Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. (PMID: 12370315) Wu L … Griffin JD (Molecular and cellular biology 2002) 2 3 4 58
- Identification of new human mastermind proteins defines a family that consists of positive regulators for notch signaling. (PMID: 12386158) Lin SE … Kitagawa M (The Journal of biological chemistry 2002) 2 3 4 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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 research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4 58
Products for MAML3 Gene
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Sources for MAML3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
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