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Q92585

- MAML1_HUMAN

UniProt

Q92585 - MAML1_HUMAN

Protein

Mastermind-like protein 1

Gene

MAML1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 3 (05 Jul 2005)
      Previous versions | rss
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    Functioni

    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.5 Publications

    GO - Molecular functioni

    1. peptide antigen binding Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. protein kinase binding Source: UniProtKB
    4. transcription coactivator activity Source: UniProtKB

    GO - Biological processi

    1. atrioventricular node cell development Source: BHF-UCL
    2. atrioventricular node development Source: BHF-UCL
    3. gene expression Source: Reactome
    4. myoblast differentiation Source: Ensembl
    5. Notch signaling pathway Source: UniProtKB
    6. positive regulation of myotube differentiation Source: UniProtKB
    7. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    8. protein phosphorylation Source: UniProtKB
    9. transcription initiation from RNA polymerase II promoter Source: Reactome

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Notch signaling pathway, Transcription, Transcription regulation

    Enzyme and pathway databases

    ReactomeiREACT_118568. Pre-NOTCH Transcription and Translation.
    REACT_118780. NOTCH1 Intracellular Domain Regulates Transcription.
    REACT_14835. Notch-HLH transcription pathway.
    REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
    REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
    REACT_163910. NOTCH2 intracellular domain regulates transcription.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mastermind-like protein 1
    Short name:
    Mam-1
    Gene namesi
    Name:MAML1Imported
    Synonyms:KIAA0200Imported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:13632. MAML1.

    Subcellular locationi

    Nucleus speckle 1 Publication
    Note: Nuclear, in a punctate manner.

    GO - Cellular componenti

    1. intracellular membrane-bounded organelle Source: HPA
    2. MAML1-RBP-Jkappa- ICN1 complex Source: UniProtKB
    3. nuclear speck Source: UniProtKB-SubCell
    4. nucleoplasm Source: Reactome
    5. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30569.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10161016Mastermind-like protein 1PRO_0000129493Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei120 – 1201PhosphoserineBy similarity
    Modified residuei314 – 3141Phosphoserine1 Publication
    Modified residuei360 – 3601Phosphoserine1 Publication
    Modified residuei822 – 8221N6-acetyllysine1 Publication
    Modified residuei1015 – 10151PhosphoserineBy similarity

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ92585.
    PaxDbiQ92585.
    PRIDEiQ92585.

    PTM databases

    PhosphoSiteiQ92585.

    Expressioni

    Tissue specificityi

    Widely expressed with highest levels in heart, pancreas, peripheral blood leukocytes and spleen.1 Publication

    Gene expression databases

    BgeeiQ92585.
    CleanExiHS_MAML1.
    GenevestigatoriQ92585.

    Organism-specific databases

    HPAiHPA037687.

    Interactioni

    Subunit structurei

    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 CDK8.6 Publications

    Protein-protein interaction databases

    BioGridi115138. 15 interactions.
    DIPiDIP-29920N.
    IntActiQ92585. 2 interactions.
    MINTiMINT-8176809.
    STRINGi9606.ENSP00000292599.

    Structurei

    Secondary structure

    1
    1016
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi17 – 6953

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2F8XX-ray3.25M13-74[»]
    3NBNX-ray3.45C/F13-74[»]
    3V79X-ray3.85M13-74[»]
    ProteinModelPortaliQ92585.
    SMRiQ92585. Positions 16-70.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ92585.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 123123Required for interaction with NOTCH proteins1 PublicationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi642 – 6454Poly-Gln

    Domaini

    The C-terminal region is required for transcriptional activation.1 Publication

    Sequence similaritiesi

    Belongs to the mastermind family.Curated

    Phylogenomic databases

    eggNOGiNOG68229.
    HOGENOMiHOG000113473.
    HOVERGENiHBG058017.
    InParanoidiQ92585.
    KOiK06061.
    OMAiSWQHQGM.
    OrthoDBiEOG793B7M.
    PhylomeDBiQ92585.
    TreeFamiTF332922.

    Family and domain databases

    InterProiIPR019082. Neuroggenic_mastermind-like_N.
    [Graphical view]
    PfamiPF09596. MamL-1. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q92585-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVLPTCPMAE FALPRHSAVM ERLRRRIELC RRHHSTCEAR YEAVSPERLE     50
    LERQHTFALH QRCIQAKAKR AGKHRQPPAA TAPAPAAPAP RLDAADGPEH 100
    GRPATHLHDT VKRNLDSATS PQNGDQQNGY GDLFPGHKKT RREAPLGVAI 150
    SSNGLPPASP LGQSDKPSGA DALQSSGKHS LGLDSLNKKR LADSSLHLNG 200
    GSNPSESFPL SLNKELKQEP VEDLPCMITG TVGSISQSNL MPDLNLNEQE 250
    WKELIEELNR SVPDEDMKDL FNEDFEEKKD PESSGSATQT PLAQDINIKT 300
    EFSPAAFEQE QLGSPQVRAG SAGQTFLGPS SAPVSTDSPS LGGSQTLFHT 350
    SGQPRADNPS PNLMPASAQA QNAQRALAGV VLPSQGPGGA SELSSAHQLQ 400
    QIAAKQKREQ MLQNPQQATP APAPGQMSTW QQTGPSHSSL DVPYPMEKPA 450
    SPSSYKQDFT NSKLLMMPSV NKSSPRPGGP YLQPSHVNLL SHQPPSNLNQ 500
    NSANNQGSVL DYGNTKPLSH YKADCGQGSP GSGQSKPALM AYLPQQLSHI 550
    SHEQNSLFLM KPKPGNMPFR SLVPPGQEQN PSSVPVQAQA TSVGTQPPAV 600
    SVASSHNSSP YLSSQQQAAV MKQHQLLLDQ QKQREQQQKH LQQQQFLQRQ 650
    QHLLAEQEKQ QFQRHLTRPP PQYQDPTQGS FPQQVGQFTG SSAAVPGMNT 700
    LGPSNSSCPR VFPQAGNLMP MGPGHASVSS LPTNSGQQDR GVAQFPGSQN 750
    MPQSSLYGMA SGITQIVAQP PPQATNGHAH IPRQTNVGQN TSVSAAYGQN 800
    SLGSSGLSQQ HNKGTLNPGL TKPPVPRVSP AMGGQNSSWQ HQGMPNLSGQ 850
    TPGNSNVSPF TAASSFHMQQ QAHLKMSSPQ FSQAVPNRPM APMSSAAAVG 900
    SLLPPVSAQQ RTSAPAPAPP PTAPQQGLPG LSPAGPELGA FSQSPASQMG 950
    GRAGLHCTQA YPVRTAGQEL PFAYSGQPGG SGLSSVAGHT DLIDSLLKNR 1000
    TSEEWMSDLD DLLGSQ 1016
    Length:1,016
    Mass (Da):108,054
    Last modified:July 5, 2005 - v3
    Checksum:iC683CB81B73A2A61
    GO

    Sequence cautioni

    The sequence BAA12114.2 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti583 – 5831S → N.
    Corresponds to variant rs41285557 [ dbSNP | Ensembl ].
    VAR_061335
    Natural varianti1007 – 10071S → N.1 Publication
    Corresponds to variant rs6895902 [ dbSNP | Ensembl ].
    VAR_029010

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D83785 mRNA. Translation: BAA12114.2. Different initiation.
    AF221759 mRNA. Translation: AAF34658.1.
    CCDSiCCDS34315.1.
    RefSeqiNP_055572.1. NM_014757.4.
    UniGeneiHs.631951.

    Genome annotation databases

    EnsembliENST00000292599; ENSP00000292599; ENSG00000161021.
    GeneIDi9794.
    KEGGihsa:9794.
    UCSCiuc003mkm.3. human.

    Polymorphism databases

    DMDMi68565602.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D83785 mRNA. Translation: BAA12114.2 . Different initiation.
    AF221759 mRNA. Translation: AAF34658.1 .
    CCDSi CCDS34315.1.
    RefSeqi NP_055572.1. NM_014757.4.
    UniGenei Hs.631951.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2F8X X-ray 3.25 M 13-74 [» ]
    3NBN X-ray 3.45 C/F 13-74 [» ]
    3V79 X-ray 3.85 M 13-74 [» ]
    ProteinModelPortali Q92585.
    SMRi Q92585. Positions 16-70.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115138. 15 interactions.
    DIPi DIP-29920N.
    IntActi Q92585. 2 interactions.
    MINTi MINT-8176809.
    STRINGi 9606.ENSP00000292599.

    PTM databases

    PhosphoSitei Q92585.

    Polymorphism databases

    DMDMi 68565602.

    Proteomic databases

    MaxQBi Q92585.
    PaxDbi Q92585.
    PRIDEi Q92585.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000292599 ; ENSP00000292599 ; ENSG00000161021 .
    GeneIDi 9794.
    KEGGi hsa:9794.
    UCSCi uc003mkm.3. human.

    Organism-specific databases

    CTDi 9794.
    GeneCardsi GC05P179159.
    HGNCi HGNC:13632. MAML1.
    HPAi HPA037687.
    MIMi 605424. gene.
    neXtProti NX_Q92585.
    PharmGKBi PA30569.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG68229.
    HOGENOMi HOG000113473.
    HOVERGENi HBG058017.
    InParanoidi Q92585.
    KOi K06061.
    OMAi SWQHQGM.
    OrthoDBi EOG793B7M.
    PhylomeDBi Q92585.
    TreeFami TF332922.

    Enzyme and pathway databases

    Reactomei REACT_118568. Pre-NOTCH Transcription and Translation.
    REACT_118780. NOTCH1 Intracellular Domain Regulates Transcription.
    REACT_14835. Notch-HLH transcription pathway.
    REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
    REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
    REACT_163910. NOTCH2 intracellular domain regulates transcription.

    Miscellaneous databases

    ChiTaRSi MAML1. human.
    EvolutionaryTracei Q92585.
    GeneWikii MAML1.
    GenomeRNAii 9794.
    NextBioi 36884.
    PROi Q92585.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q92585.
    CleanExi HS_MAML1.
    Genevestigatori Q92585.

    Family and domain databases

    InterProi IPR019082. Neuroggenic_mastermind-like_N.
    [Graphical view ]
    Pfami PF09596. MamL-1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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."
      Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N.
      DNA Res. 3:17-24(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Bone marrow1 Publication.
    2. "MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors."
      Wu L., Aster J.C., Blacklow S.C., Lake R., Artavanis-Tsakonas S., Griffin J.D.
      Nat. Genet. 26:484-489(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 124-1016, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH NOTCH1; NOTCH2; NOTCH3 AND NOTCH4, VARIANT ASN-1007.
      Tissue: Cervix carcinoma.
    3. "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."
      Kitagawa M., Oyama T., Kawashima T., Yedvobnick B., Kumar A., Matsuno K., Harigaya K.
      Mol. Cell. Biol. 21:4337-4346(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH NOTCH1.
    4. "Mastermind mediates chromatin-specific transcription and turnover of the Notch enhancer complex."
      Fryer C.J., Lamar E., Turbachova I., Kintner C., Jones K.A.
      Genes Dev. 16:1397-1411(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH CREBBP.
    5. "Mastermind recruits CycC:CDK8 to phosphorylate the Notch ICD and coordinate activation with turnover."
      Fryer C.J., White J.B., Jones K.A.
      Mol. Cell 16:509-520(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH CDK8.
    6. Cited for: FUNCTION, INTERACTION WITH TP53.
    7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-314 AND SER-360, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    8. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-822, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes."
      Nam Y., Sliz P., Song L., Aster J.C., Blacklow S.C.
      Cell 124:973-983(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.25 ANGSTROMS) OF 13-74 IN COMPLEX WITH RBPSUH AND NOTCH1.

    Entry informationi

    Entry nameiMAML1_HUMAN
    AccessioniPrimary (citable) accession number: Q92585
    Secondary accession number(s): Q9NZ12
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2005
    Last sequence update: July 5, 2005
    Last modified: October 1, 2014
    This is version 115 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3