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Q92585

- MAML1_HUMAN

UniProt

Q92585 - MAML1_HUMAN

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Protein

Mastermind-like protein 1

Gene

MAML1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 kinase binding Source: UniProtKB
  3. 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
Complete GO annotation...

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: InterPro
  4. nucleoplasm Source: Reactome
  5. nucleus Source: UniProtKB
Complete GO annotation...

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 – 6953Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00530000063317.
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

        10         20         30         40         50
MVLPTCPMAE FALPRHSAVM ERLRRRIELC RRHHSTCEAR YEAVSPERLE
60 70 80 90 100
LERQHTFALH QRCIQAKAKR AGKHRQPPAA TAPAPAAPAP RLDAADGPEH
110 120 130 140 150
GRPATHLHDT VKRNLDSATS PQNGDQQNGY GDLFPGHKKT RREAPLGVAI
160 170 180 190 200
SSNGLPPASP LGQSDKPSGA DALQSSGKHS LGLDSLNKKR LADSSLHLNG
210 220 230 240 250
GSNPSESFPL SLNKELKQEP VEDLPCMITG TVGSISQSNL MPDLNLNEQE
260 270 280 290 300
WKELIEELNR SVPDEDMKDL FNEDFEEKKD PESSGSATQT PLAQDINIKT
310 320 330 340 350
EFSPAAFEQE QLGSPQVRAG SAGQTFLGPS SAPVSTDSPS LGGSQTLFHT
360 370 380 390 400
SGQPRADNPS PNLMPASAQA QNAQRALAGV VLPSQGPGGA SELSSAHQLQ
410 420 430 440 450
QIAAKQKREQ MLQNPQQATP APAPGQMSTW QQTGPSHSSL DVPYPMEKPA
460 470 480 490 500
SPSSYKQDFT NSKLLMMPSV NKSSPRPGGP YLQPSHVNLL SHQPPSNLNQ
510 520 530 540 550
NSANNQGSVL DYGNTKPLSH YKADCGQGSP GSGQSKPALM AYLPQQLSHI
560 570 580 590 600
SHEQNSLFLM KPKPGNMPFR SLVPPGQEQN PSSVPVQAQA TSVGTQPPAV
610 620 630 640 650
SVASSHNSSP YLSSQQQAAV MKQHQLLLDQ QKQREQQQKH LQQQQFLQRQ
660 670 680 690 700
QHLLAEQEKQ QFQRHLTRPP PQYQDPTQGS FPQQVGQFTG SSAAVPGMNT
710 720 730 740 750
LGPSNSSCPR VFPQAGNLMP MGPGHASVSS LPTNSGQQDR GVAQFPGSQN
760 770 780 790 800
MPQSSLYGMA SGITQIVAQP PPQATNGHAH IPRQTNVGQN TSVSAAYGQN
810 820 830 840 850
SLGSSGLSQQ HNKGTLNPGL TKPPVPRVSP AMGGQNSSWQ HQGMPNLSGQ
860 870 880 890 900
TPGNSNVSPF TAASSFHMQQ QAHLKMSSPQ FSQAVPNRPM APMSSAAAVG
910 920 930 940 950
SLLPPVSAQQ RTSAPAPAPP PTAPQQGLPG LSPAGPELGA FSQSPASQMG
960 970 980 990 1000
GRAGLHCTQA YPVRTAGQEL PFAYSGQPGG SGLSSVAGHT DLIDSLLKNR
1010
TSEEWMSDLD DLLGSQ
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. Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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:
PDBei
RCSB PDBi
PDBji
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.
GeneTreei ENSGT00530000063317.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 117 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