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MAML1 Gene

protein-coding   GIFtS: 61
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)
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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   

Export aliases for MAML1 gene to outside databases

Previous GC identifers: GC05P179272 GC05P180103 GC05P179224 GC05P179269 GC05P179092 GC05P173886


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with MAML1 include mucoepidermoid carcinoma, and esophageal squamous cell carcinoma. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_023133.14  
Regulatory elements:
   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 Chromatin IP Primers for MAML1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MAML1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055572.1  
    ENSEMBL proteins: 
     ENSP00000292599  
    Reactome Protein details: Q92585

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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/body 
     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: Let us create your new Knockout/Knockin mouse model for MAML1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAML1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAML1

    miRNA
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    hsa-mir-124-3p (MIRT022154), hsa-mir-92a-3p (MIRT049055), hsa-mir-197-3p (MIRT048105)

    Block miRNA regulation of human, mouse, rat MAML1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAML1 (see all 98):
    hsa-miR-548j hsa-miR-520e hsa-miR-3194-5p hsa-miR-3146 hsa-miR-374a hsa-miR-30d hsa-miR-519a hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidMAML1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MAML1

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAML1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MAML1_HUMAN, Q92585: Nucleus speckle. Note=Nuclear, in a punctate manner
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MAML1 About   (see all 12)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway (KEGG)
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    Notch Signaling0.30
    2Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 in Cancer0.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Signaling by NOTCH10.79
    NOTCH1 Intracellular Domain Regulates Transcription0.68
    3Pre-NOTCH Expression and Processing
    Pre-NOTCH Expression and Processing0.62
    Notch-HLH transcription pathway0.00
    Pre-NOTCH Transcription and Translation0.62
    4Signaling by NOTCH2
    Signaling by NOTCH20.67
    NOTCH2 intracellular domain regulates transcription0.00
    5Development NOTCH1 mediated pathway for NF KB activity modulation
    Development NOTCH1 mediated pathway for NF KB activity modulation0.50
    Development Notch Signaling Pathway0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for MAML1
        Notch Signaling Pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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

    Selected Reactome Pathways for MAML1 (see all 6)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    NOTCH1 Intracellular Domain Regulates Transcription
    Pre-NOTCH Transcription and Translation
    Notch-HLH transcription pathway
    NOTCH2 intracellular domain regulates transcription


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


    MAML1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MAML1: 
              Notch Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MAML1

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

    Selected 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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    Selected qRT-PCR Assays for microRNAs that regulate MAML1 (see all 98):
    hsa-miR-548j hsa-miR-520e hsa-miR-3194-5p hsa-miR-3146 hsa-miR-374a hsa-miR-30d hsa-miR-519a hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmidMAML1 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat MAML1

    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 

    Selected AceView cDNA sequences (see all 232):

    BM550069 BQ643776 BQ434095 AA465008 D83785 BU189220 BQ948881 BG109905 
    BF914391 BM991694 AI276937 AA778184 AI276941 AI350834 N98366 AI076206 
    N71169 AI370027 Z45530 BQ889190 AU132269 BC047937 NM_014757 BF446802 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    MAML1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAML1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MAML1 gene from Selected 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 85.42(n)1
    85.69(a)1
      11 (30.42 cM)5
    1038061  NM_175334.31  NP_780543.21 
     502556345 
    chicken
    (Gallus gallus)
    Aves MAML11 mastermind-like 1 (Drosophila) 67.32(n)
    62.36(a)
      416286  XM_414607.4  XP_414607.4 
    lizard
    (Anolis carolinensis)
    Reptilia MAML16
    mastermind-like 1 (Drosophila)
    56(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 52.32(n)
    43.04(a)
      567335  XM_005157216.1  XP_005157273.1 


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MAML1 (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

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 605424    OMIM disorders: --

    15 diseases for MAML1:    About MalaCards
    mucoepidermoid carcinoma    esophageal squamous cell carcinoma    cervical cancer    tonsillitis
    cervicitis    esophagitis    t-cell leukemia    squamous cell carcinoma
    breast cancer    melanoma    thyroiditis    cerebritis
    leukemia    endotheliitis    prostatitis


    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)
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    PubMed articles for MAML1 gene, integrated from 10 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. (Mol. Cell. Biol. 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. (Nat. Genet. 2000)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. The notch regulator MAML1 interacts with p53 and functions as a coactivator. (PubMed id 17317671)1, 2 Zhao Y.... Band V. (J. Biol. Chem. 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. (Cell 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. (Mol. Cell 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. (Genes Dev. 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. (DNA Res. 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. (Mol. Cell. Biol. 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. (J. Virol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9794 HGNC: 13632 AceView: MAML1 Ensembl:ENSG00000161021 euGenes: HUgn9794
    ECgene: MAML1 Kegg: 9794 H-InvDB: MAML1

    (According to HUGE)
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    HUGE: KIAA0200

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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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