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Protein

Mastermind-like protein 1

Gene

MAML1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • peptide antigen binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB
  • transcription coactivator activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionActivator
Biological processNotch signaling pathway, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-1912408 Pre-NOTCH Transcription and Translation
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2197563 NOTCH2 intracellular domain regulates transcription
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-350054 Notch-HLH transcription pathway
R-HSA-8941856 RUNX3 regulates NOTCH signaling
R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
SIGNORiQ92585

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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000161021.11
HGNCiHGNC:13632 MAML1
MIMi605424 gene
neXtProtiNX_Q92585

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi9794
OpenTargetsiENSG00000161021
PharmGKBiPA30569

Polymorphism and mutation databases

BioMutaiMAML1
DMDMi68565602

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001294931 – 1016Mastermind-like protein 1Add BLAST1016

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei45PhosphoserineCombined sources1
Modified residuei120PhosphoserineBy similarity1
Modified residuei303PhosphoserineBy similarity1
Modified residuei314PhosphoserineCombined sources1
Modified residuei360PhosphoserineCombined sources1
Modified residuei822N6-acetyllysineCombined sources1
Modified residuei1015PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ92585
MaxQBiQ92585
PaxDbiQ92585
PeptideAtlasiQ92585
PRIDEiQ92585
ProteomicsDBi75342

PTM databases

iPTMnetiQ92585
PhosphoSitePlusiQ92585

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000161021
CleanExiHS_MAML1
GenevisibleiQ92585 HS

Organism-specific databases

HPAiHPA037687
HPA057531

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.Forms a complex with PRAG1, NOTCH1 and MAML1, in a MAML1-dependent manner (By similarity).By similarity6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NOTCH1P4653114EBI-908250,EBI-636374

GO - Molecular functioni

  • protein kinase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi115138, 24 interactors
CORUMiQ92585
DIPiDIP-29920N
IntActiQ92585, 14 interactors
MINTiQ92585
STRINGi9606.ENSP00000292599

Structurei

Secondary structure

11016
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi17 – 69Combined sources53

3D structure databases

ProteinModelPortaliQ92585
SMRiQ92585
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ92585

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 123Required for interaction with NOTCH proteins1 PublicationAdd BLAST123

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi642 – 645Poly-Gln4

Domaini

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

Sequence similaritiesi

Belongs to the mastermind family.Curated

Phylogenomic databases

eggNOGiENOG410IHPP Eukaryota
ENOG4111N9A LUCA
GeneTreeiENSGT00530000063317
HOGENOMiHOG000113473
HOVERGENiHBG058017
InParanoidiQ92585
KOiK06061
OMAiSEEWMND
OrthoDBiEOG091G01SE
PhylomeDBiQ92585
TreeFamiTF332922

Family and domain databases

InterProiView protein in InterPro
IPR019082 Neuroggenic_mastermind-like_N
PfamiView protein in Pfam
PF09596 MamL-1, 1 hit
SMARTiView protein in SMART
SM01275 MamL-1, 1 hit

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 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061335583S → N. Corresponds to variant dbSNP:rs41285557Ensembl.1
Natural variantiVAR_0290101007S → N1 PublicationCorresponds to variant dbSNP:rs6895902Ensembl.1

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
ENST00000638220; ENSP00000491444; ENSG00000283780
GeneIDi9794
KEGGihsa:9794
UCSCiuc003mkm.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMAML1_HUMAN
AccessioniPrimary (citable) accession number: Q92585
Secondary accession number(s): Q9NZ12
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: July 5, 2005
Last modified: July 18, 2018
This is version 149 of the entry and version 3 of the sequence. See 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

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