UniProtKB - Q92585 (MAML1_HUMAN)
Mastermind-like protein 1
MAML1
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 PublicationsGO - Molecular functioni
- peptide antigen binding Source: UniProtKB
- protein kinase binding Source: UniProtKB
- transcription coactivator activity Source: UniProtKB
GO - Biological processi
- atrioventricular node cell development Source: BHF-UCL
- atrioventricular node development Source: BHF-UCL
- myoblast differentiation Source: Ensembl
- Notch signaling pathway Source: UniProtKB
- positive regulation of myotube differentiation Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- positive regulation of transcription of Notch receptor target Source: GO_Central
- protein phosphorylation Source: UniProtKB
Keywordsi
Molecular function | Activator |
Biological process | Notch signaling pathway, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q92585 |
Reactomei | R-HSA-1912408, Pre-NOTCH Transcription and Translation R-HSA-210744, Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells 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 R-HSA-9013695, NOTCH4 Intracellular Domain Regulates Transcription |
SignaLinki | Q92585 |
SIGNORi | Q92585 |
Names & Taxonomyi
Protein namesi | Recommended name: Mastermind-like protein 1Short name: Mam-1 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13632, MAML1 |
MIMi | 605424, gene |
neXtProti | NX_Q92585 |
VEuPathDBi | HostDB:ENSG00000161021 |
Subcellular locationi
Nucleus
- Nucleus speckle 1 Publication
Note: Nuclear, in a punctate manner.
Nucleus
- nuclear speck Source: UniProtKB-SubCell
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- intracellular membrane-bounded organelle Source: HPA
- MAML1-RBP-Jkappa- ICN1 complex Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 9794 |
OpenTargetsi | ENSG00000161021 |
PharmGKBi | PA30569 |
Miscellaneous databases
Pharosi | Q92585, Tbio |
Genetic variation databases
BioMutai | MAML1 |
DMDMi | 68565602 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000129493 | 1 – 1016 | Mastermind-like protein 1Add BLAST | 1016 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 45 | PhosphoserineCombined sources | 1 | |
Modified residuei | 120 | PhosphoserineBy similarity | 1 | |
Modified residuei | 303 | PhosphoserineBy similarity | 1 | |
Modified residuei | 314 | PhosphoserineCombined sources | 1 | |
Modified residuei | 360 | PhosphoserineCombined sources | 1 | |
Modified residuei | 822 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 1015 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q92585 |
jPOSTi | Q92585 |
MassIVEi | Q92585 |
MaxQBi | Q92585 |
PaxDbi | Q92585 |
PeptideAtlasi | Q92585 |
PRIDEi | Q92585 |
ProteomicsDBi | 75342 |
PTM databases
GlyGeni | Q92585, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q92585 |
PhosphoSitePlusi | Q92585 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000161021, Expressed in sural nerve and 246 other tissues |
Genevisiblei | Q92585, HS |
Organism-specific databases
HPAi | ENSG00000161021, Low tissue specificity |
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 PublicationsBinary interactionsi
Q92585
With | #Exp. | IntAct |
---|---|---|
NOTCH1 [P46531] | 15 | EBI-908250,EBI-636374 |
GO - Molecular functioni
- protein kinase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 115138, 38 interactors |
CORUMi | Q92585 |
DIPi | DIP-29920N |
IntActi | Q92585, 17 interactors |
MINTi | Q92585 |
STRINGi | 9606.ENSP00000292599 |
Miscellaneous databases
RNActi | Q92585, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q92585 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q92585 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 123 | Required for interaction with NOTCH proteins1 PublicationAdd BLAST | 123 | |
Regioni | 65 – 184 | DisorderedSequence analysisAdd BLAST | 120 | |
Regioni | 263 – 487 | DisorderedSequence analysisAdd BLAST | 225 | |
Regioni | 561 – 617 | DisorderedSequence analysisAdd BLAST | 57 | |
Regioni | 658 – 681 | DisorderedSequence analysisAdd BLAST | 24 | |
Regioni | 796 – 953 | DisorderedSequence analysisAdd BLAST | 158 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 95 – 113 | Basic and acidic residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 114 – 129 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 168 – 182 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 263 – 283 | Basic and acidic residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 307 – 374 | Polar residuesSequence analysisAdd BLAST | 68 | |
Compositional biasi | 388 – 439 | Polar residuesSequence analysisAdd BLAST | 52 | |
Compositional biasi | 453 – 469 | Polar residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 573 – 617 | Polar residuesSequence analysisAdd BLAST | 45 | |
Compositional biasi | 664 – 681 | Polar residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 796 – 817 | Polar residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 831 – 889 | Polar residuesSequence analysisAdd BLAST | 59 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | ENOG502QSU1, Eukaryota |
GeneTreei | ENSGT00950000183201 |
HOGENOMi | CLU_008569_1_0_1 |
InParanoidi | Q92585 |
OMAi | MPNLSGQ |
OrthoDBi | 177202at2759 |
PhylomeDBi | Q92585 |
TreeFami | TF332922 |
Family and domain databases
IDEALi | IID00220 |
InterProi | View protein in InterPro IPR019082, Neuroggenic_mastermind-like_N |
Pfami | View protein in Pfam PF09596, MamL-1, 1 hit |
SMARTi | View protein in SMART SM01275, MamL-1, 1 hit |
i Sequence
Sequence statusi: Complete.
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
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_061335 | 583 | S → N. Corresponds to variant dbSNP:rs41285557Ensembl. | 1 | |
Natural variantiVAR_029010 | 1007 | S → 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 |
CCDSi | CCDS34315.1 |
RefSeqi | NP_055572.1, NM_014757.4 |
Genome annotation databases
Ensembli | ENST00000292599; ENSP00000292599; ENSG00000161021 ENST00000638220; ENSP00000491444; ENSG00000283780 |
GeneIDi | 9794 |
KEGGi | hsa:9794 |
MANE-Selecti | ENST00000292599.4; ENSP00000292599.3; NM_014757.5; NP_055572.1 |
UCSCi | uc003mkm.3, human |
Similar proteinsi
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 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB 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 | [»] | |
6SMV | X-ray | 2.14 | A | 1003-1016 | [»] | |
SMRi | Q92585 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115138, 38 interactors |
CORUMi | Q92585 |
DIPi | DIP-29920N |
IntActi | Q92585, 17 interactors |
MINTi | Q92585 |
STRINGi | 9606.ENSP00000292599 |
PTM databases
GlyGeni | Q92585, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q92585 |
PhosphoSitePlusi | Q92585 |
Genetic variation databases
BioMutai | MAML1 |
DMDMi | 68565602 |
Proteomic databases
EPDi | Q92585 |
jPOSTi | Q92585 |
MassIVEi | Q92585 |
MaxQBi | Q92585 |
PaxDbi | Q92585 |
PeptideAtlasi | Q92585 |
PRIDEi | Q92585 |
ProteomicsDBi | 75342 |
Protocols and materials databases
Antibodypediai | 29514, 235 antibodies from 35 providers |
DNASUi | 9794 |
Genome annotation databases
Ensembli | ENST00000292599; ENSP00000292599; ENSG00000161021 ENST00000638220; ENSP00000491444; ENSG00000283780 |
GeneIDi | 9794 |
KEGGi | hsa:9794 |
MANE-Selecti | ENST00000292599.4; ENSP00000292599.3; NM_014757.5; NP_055572.1 |
UCSCi | uc003mkm.3, human |
Organism-specific databases
CTDi | 9794 |
DisGeNETi | 9794 |
GeneCardsi | MAML1 |
HGNCi | HGNC:13632, MAML1 |
HPAi | ENSG00000161021, Low tissue specificity |
MIMi | 605424, gene |
neXtProti | NX_Q92585 |
OpenTargetsi | ENSG00000161021 |
PharmGKBi | PA30569 |
VEuPathDBi | HostDB:ENSG00000161021 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QSU1, Eukaryota |
GeneTreei | ENSGT00950000183201 |
HOGENOMi | CLU_008569_1_0_1 |
InParanoidi | Q92585 |
OMAi | MPNLSGQ |
OrthoDBi | 177202at2759 |
PhylomeDBi | Q92585 |
TreeFami | TF332922 |
Enzyme and pathway databases
PathwayCommonsi | Q92585 |
Reactomei | R-HSA-1912408, Pre-NOTCH Transcription and Translation R-HSA-210744, Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells 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 R-HSA-9013695, NOTCH4 Intracellular Domain Regulates Transcription |
SignaLinki | Q92585 |
SIGNORi | Q92585 |
Miscellaneous databases
BioGRID-ORCSi | 9794, 23 hits in 1052 CRISPR screens |
ChiTaRSi | MAML1, human |
EvolutionaryTracei | Q92585 |
GeneWikii | MAML1 |
GenomeRNAii | 9794 |
Pharosi | Q92585, Tbio |
PROi | PR:Q92585 |
RNActi | Q92585, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000161021, Expressed in sural nerve and 246 other tissues |
Genevisiblei | Q92585, HS |
Family and domain databases
IDEALi | IID00220 |
InterProi | View protein in InterPro IPR019082, Neuroggenic_mastermind-like_N |
Pfami | View protein in Pfam PF09596, MamL-1, 1 hit |
SMARTi | View protein in SMART SM01275, MamL-1, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MAML1_HUMAN | |
Accessioni | Q92585Primary (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: | February 23, 2022 | |
This is version 169 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families