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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAML1 Gene

protein-coding   GIFtS: 62
GCID: GC05P179159

Mastermind-Like 1 (Drosophila)

(Previous name: mastermind (drosophila)-like 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Mastermind-Like 1 (Drosophila)1 2     Mam12
Mastermind Homolog1 2     Mastermind-Like Protein 12
Mam-12 3     KIAA02003
Mastermind (Drosophila)-Like 11     

External Ids:    HGNC: 136321   Entrez Gene: 97942   Ensembl: ENSG000001610217   OMIM: 6054245   UniProtKB: Q925853   
ORGUL members:         
NONCODE14:n340774      

Export aliases for MAML1 gene to outside databases

Previous GC identifers: GC05P179272 GC05P180103 GC05P179224 GC05P179269 GC05P179092 GC05P173886


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with MAML1 include mucoepidermoid carcinoma, and cervical cancer, and among its related super-pathways are Constitutive Signaling by NOTCH1 PEST Domain Mutants and Notch signaling pathway. GO annotations related to this gene include peptide antigen binding and protein kinase binding. An important paralog of this gene is MAML3.

UniProtKB/Swiss-Prot: MAML1_HUMAN, Q92585
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 Wiki entry for MAML1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_023133.13  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MAML1 gene promoter:
         Spz1   AML1a   Pax-5   POU6F1 (c2)   Evi-1   AREB6   POU2F1   COMP1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAML1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MAML1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAML1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35

MAML1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAML1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P179159:  view genomic region     (about GC identifiers)

Start:
179,159,851 bp from pter      End:
179,223,512 bp from pter
Size:
63,662 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MAML1_HUMAN, Q92585 (See protein sequence)
Recommended Name: Mastermind-like protein 1  
Size: 1016 amino acids; 108054 Da
Subunit: 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
Subcellular location: Nucleus speckle. Note=Nuclear, in a punctate manner
Sequence caution: Sequence=BAA12114.2; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for MAML1:
2F8X (3D)        3NBN (3D)        3V79 (3D)    
Secondary accessions: Q9NZ12

Explore the universe of human proteins at neXtProt for MAML1: NX_Q92585

Explore proteomics data for MAML1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92585

  • MAML1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAML1 Protein Expression
    REFSEQ proteins: NP_055572.1  
    ENSEMBL proteins: 
     ENSP00000292599  
    Reactome Protein details: Q92585
    Human Recombinant Protein Products for MAML1: 
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    Cloud-Clone Corp. Proteins for MAML1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002193MAML1-RBP-Jkappa- ICN1 complex IDA16510869
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0016607nuclear speck IEA--

    MAML1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019082 Neuroggenic_mastermind-like_N

    Graphical View of Domain Structure for InterPro Entry Q92585

    ProtoNet protein and cluster: Q92585

    UniProtKB/Swiss-Prot: MAML1_HUMAN, Q92585
    Domain: The C-terminal region is required for transcriptional activation
    Similarity: Belongs to the mastermind family


    MAML1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAML1_HUMAN, Q92585
    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IDA11101851
    GO:0005515protein binding IPI11101851
    GO:0019901protein kinase binding IPI15546612
    GO:0042605peptide antigen binding IPI17317671
         
    MAML1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MAML1:
     Synthetic lethal with imatinib 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Maml1):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size 
     hematopoietic system  immune system  mortality/aging  muscle  nervous system 

    MAML1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MAML1: Maml1tm1Mkit Maml1tm1Lizw

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MAML1 
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    SwitchGear 3'UTR luciferase reporter plasmidMAML1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MAML1 About   (see all 11)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.89
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.89
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH10.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH0.74
    2Notch signaling pathway
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    3NOTCH2 intracellular domain regulates transcription
    Signaling by NOTCH20.66
    NICD traffics to nucleus0.32
    NOTCH2 intracellular domain regulates transcription0.38
    Notch-HLH transcription pathway0.32
    4Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development NOTCH1-mediated pathway for NF-KB activity modulation0.88
    Development Notch Signaling Pathway0.54
    5Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for MAML1
        Development Notch Signaling Pathway
    Development NOTCH1-mediated pathway for NF-KB activity modulation

    1 R&D Systems Pathway for MAML1
        Notch Signaling Pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MAML1
        Notch Signaling

    1 Cell Signaling Technology (CST) Pathway for MAML1
        Wnt / Hedgehog / Notch

    2 GeneGo (Thomson Reuters) Pathways for MAML1
        Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development Notch Signaling Pathway

    4 BioSystems Pathways for MAML1
        Notch Signaling Pathway
    Delta-Notch Signaling Pathway
    Notch signaling pathway
    Notch-mediated HES/HEY network

    5/19        Reactome Pathways for MAML1 (see all 19)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    FBXW7 Mutants and NOTCH1 in Cancer
    Notch-HLH transcription pathway
    Signaling by NOTCH1 HD Domain Mutants in Cancer


    1         Kegg Pathway  (Kegg details for MAML1):
        Notch signaling pathway


    MAML1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MAML1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/44 Interacting proteins for MAML1 (Q925852, 3 ENSP000002925994) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBPJQ063302, 3, ENSP000003452064MINT-8177109 I2D: score=2 STRING: ENSP00000345206
    ENSG00000234876Q994663, ENSP000004034474I2D: score=2 STRING: ENSP00000403447
    NOTCH4Q994663, ENSP000003641634I2D: score=2 STRING: ENSP00000364163
    ENSG00000223355Q994663I2D: score=2 
    ENSG00000238196Q994663I2D: score=2 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003162atrioventricular node development ISS--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0006468protein phosphorylation IDA16510869
    GO:0007219Notch signaling pathway TAS--
    GO:0010467gene expression TAS--

    MAML1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MAML1

    Search CenterWatch for drugs/clinical trials and news about MAML1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MAML1 gene: 
    NM_014757.4  

    Unigene Cluster for MAML1:

    Mastermind-like 1 (Drosophila)
    Hs.631951  [show with all ESTs]
    Unigene Representative Sequence: AB209135
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000292599(uc003mkm.3) ENST00000503050(uc003mkn.1) ENST00000507385
    ENST00000511027
    miRNA
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    Additional mRNA sequence: 

    AB209135.1 AF221759.1 AK295139.1 BC047937.1 D83785.1 

    10 DOTS entries:

    DT.442264  DT.100768302  DT.95270741  DT.40196902  DT.40113147  DT.92042583  DT.95171528  DT.91785910 
    DT.91806743  DT.95270740 

    24/232 AceView cDNA sequences (see all 232):

    BG109905 AI370027 BC047937 AF221759 N71169 AI076206 BQ889190 BQ643776 
    CB120227 BM550069 BM991694 D83785 AU132269 AA465008 AA504775 BU189220 
    AI350834 AA491386 BQ434095 BF914391 BQ430417 BE243527 BF061706 AA984253 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAML1 expression in normal human tissues (normalized intensities)      MAML1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MAML1 Expression
    About this image


    MAML1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             cerebellum   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See MAML1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAML1

    SOURCE GeneReport for Unigene cluster: Hs.631951

    UniProtKB/Swiss-Prot: MAML1_HUMAN, Q92585
    Tissue specificity: Widely expressed with highest levels in heart, pancreas, peripheral blood leukocytes and
    spleen

        SABiosciences Expression via Pathway-Focused PCR Array including MAML1: 
              Notch Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAML1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MAML1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Maml11 , 5 mastermind like 1 (Drosophila)1, 5 86.05(n)1
    87.07(a)1
      11 (30.42 cM)5
    1038061  NM_175334.31  NP_780543.21 
     502556345 
    chicken
    (Gallus gallus)
    Aves MAML11 mastermind-like 1 (Drosophila) 67.97(n)
    63.62(a)
      416286  XM_414607.3  XP_414607.3 
    lizard
    (Anolis carolinensis)
    Reptilia MAML16
    Uncharacterized protein
    59(a)
    1 ↔ 1
    2(140297548-140307022)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF288399.12   -- 73.76(n)    CF288399.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5673351 mastermind-like protein 1-like 51.13(n)
    40.66(a)
      567335  XM_690627.3  XP_695719.3 


    ENSEMBL Gene Tree for MAML1 (if available)
    TreeFam Gene Tree for MAML1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MAML1 gene
    MAML32  MAML22  
    2 SIMAP similar genes for MAML1 using alignment to 1 protein entry:     MAML1_HUMAN:
    MAML3    DKFZp762E1511

    MAML1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MAML1
    PGOHUM00000242116


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1004 SNPs in MAML1 are shown (see all 1004)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1403639361,2
    C--179159169(+) TCTAAC/TGGAGC 1 -- us2k10--------
    rs1930668381,2
    --179159287(+) CCAGTA/GATTCG 1 -- us2k10--------
    rs1853908441,2
    --179159368(+) AAGGTC/TAAAGT 1 -- us2k10--------
    rs796145301,2
    --179159369(+) AGGTCA/CAAGTA 1 -- us2k10--------
    rs1899638221,2
    --179159372(+) TCAAAA/GTAAAA 1 -- us2k10--------
    rs1481189121,2
    --179159452(+) AAAGGC/TCTCTG 1 -- us2k10--------
    rs1813179301,2
    C--179159609(+) CACGCC/TTAGCT 1 -- us2k10--------
    rs68796131,2
    C,F,A,H--179159627(+) CAGGAC/TTAAGG 1 -- us2k121Minor allele frequency- T:0.29NS EA WA NA CSA 2345
    rs77234501,2
    C,F,H--179159781(+) ATCAGT/CCGTGA 1 -- us2k118Minor allele frequency- C:0.18NS EA NA WA 2342
    rs2003732821,2
    --179160140(+) ATGGCG/TGAGTT 2 A syn10--------

    HapMap Linkage Disequilibrium report for MAML1 (179159851 - 179223512 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MAML1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv883270CNV Loss21882294
    nsv469579CNV Loss16826518
    nsv483062CNV Loss15286789
    nsv518964CNV Loss19592680
    nsv830560CNV Loss17160897
    nsv883275CNV Loss21882294
    dgv6400n71CNV Loss21882294
    nsv823360CNV Gain20364138

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605424    OMIM disorders: --

    7 diseases for MAML1:    About MalaCards
    mucoepidermoid carcinoma    cervical cancer    esophageal squamous cell carcinoma    cervicitis
    esophagitis    squamous cell carcinoma    breast cancer


    MAML1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MAML1
    Human Genome Epidemiology (HuGE) Navigator: MAML1 (3 documents)

    Export disorders for MAML1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MAML1 gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with MAML1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 11390662)1, 2, 3 Kitagawa M....Harigaya K. (2001)
    2. MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors. (PubMed id 11101851)1, 2, 3 Wu L....Griffin J.D. (2000)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. The notch regulator MAML1 interacts with p53 and functions as a coactivator. (PubMed id 17317671)1, 2 Zhao Y.... Band V. (2007)
    5. Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes. (PubMed id 16530044)1, 2 Nam Y.... Blacklow S.C. (2006)
    6. Mastermind recruits CycC:CDK8 to phosphorylate the Notch ICD and coordinate activation with turnover. (PubMed id 15546612)1, 2 Fryer C.J.... Jones K.A. (2004)
    7. Mastermind mediates chromatin-specific transcription and turnover of the Notch enhancer complex. (PubMed id 12050117)1, 2 Fryer C.J.... Jones K.A. (2002)
    8. 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. (PubMed id 8724849)1, 2 Nagase T.... Nomura N. (1996)
    9. p300 and PCAF act cooperatively to mediate transcriptional activation from chromatin templates by notch intracellular domains in vitro. (PubMed id 12391150)1, 9 Wallberg A.E....Roeder R.G. (2002)
    10. The human papillomavirus type 8 E6 protein interferes with NOTCH activation during keratinocyte differentiation. (PubMed id 23365452)1 Meyers J.M....Munger K. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9794 HGNC: 13632 AceView: MAML1 Ensembl:ENSG00000161021 euGenes: HUgn9794
    ECgene: MAML1 Kegg: 9794 H-InvDB: MAML1

    (According to HUGE)
    About This Section
    HUGE: KIAA0200

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MAML1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MAML1 gene:
    Search GeneIP for patents involving MAML1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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