Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
We will be switching to the new UniProt website soon. Please explore and share your feedback. Take me to the new website.

UniProtKB - Q92585 (MAML1_HUMAN)

Entry version 169 (23 Feb 2022)
Sequence version 3 (05 Jul 2005)
Previous versions | rss
Add a publicationFeedback
Protein

Mastermind-like protein 1

Gene

MAML1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator
Biological processNotch signaling pathway, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q92585

Reactome - a knowledgebase of biological pathways and processes

More...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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q92585

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q92585

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mastermind-like protein 1
Short name:
Mam-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MAML1Imported
Synonyms:KIAA0200Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:13632, MAML1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605424, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q92585

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000161021

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		9794

Open Targets

More...OpenTargetsi		ENSG00000161021

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30569

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q92585, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MAML1

Domain mapping of disease mutations (DMDM)

More...DMDMi		68565602

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001294931 – 1016Mastermind-like protein 1Add BLAST1016

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...EPDi		Q92585

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q92585

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q92585

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q92585

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q92585

PeptideAtlas

More...PeptideAtlasi		Q92585

PRoteomics IDEntifications database

More...PRIDEi		Q92585

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75342

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q92585, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q92585

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q92585

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000161021, Expressed in sural nerve and 246 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q92585, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000161021, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115138, 38 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q92585

Database of interacting proteins

More...DIPi		DIP-29920N

Protein interaction database and analysis system

More...IntActi		Q92585, 17 interactors

Molecular INTeraction database

More...MINTi		Q92585

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000292599

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q92585, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11016
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q92585

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q92585

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 123Required for interaction with NOTCH proteins1 PublicationAdd BLAST123
Regioni65 – 184DisorderedSequence analysisAdd BLAST120
Regioni263 – 487DisorderedSequence analysisAdd BLAST225
Regioni561 – 617DisorderedSequence analysisAdd BLAST57
Regioni658 – 681DisorderedSequence analysisAdd BLAST24
Regioni796 – 953DisorderedSequence analysisAdd BLAST158

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi95 – 113Basic and acidic residuesSequence analysisAdd BLAST19
Compositional biasi114 – 129Polar residuesSequence analysisAdd BLAST16
Compositional biasi168 – 182Polar residuesSequence analysisAdd BLAST15
Compositional biasi263 – 283Basic and acidic residuesSequence analysisAdd BLAST21
Compositional biasi307 – 374Polar residuesSequence analysisAdd BLAST68
Compositional biasi388 – 439Polar residuesSequence analysisAdd BLAST52
Compositional biasi453 – 469Polar residuesSequence analysisAdd BLAST17
Compositional biasi573 – 617Polar residuesSequence analysisAdd BLAST45
Compositional biasi664 – 681Polar residuesSequence analysisAdd BLAST18
Compositional biasi796 – 817Polar residuesSequence analysisAdd BLAST22
Compositional biasi831 – 889Polar residuesSequence analysisAdd BLAST59

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the mastermind family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QSU1, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183201

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_008569_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92585

Identification of Orthologs from Complete Genome Data

More...OMAi		MPNLSGQ

Database of Orthologous Groups

More...OrthoDBi		177202at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q92585

TreeFam database of animal gene trees

More...TreeFami		TF332922

Family and domain databases

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00220

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019082, Neuroggenic_mastermind-like_N

Pfam protein domain database

More...Pfami		View protein in Pfam
PF09596, MamL-1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01275, MamL-1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC683CB81B73A2A61
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
D83785 mRNA Translation: BAA12114.2 Different initiation.
AF221759 mRNA Translation: AAF34658.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34315.1

NCBI Reference Sequences

More...RefSeqi		NP_055572.1, NM_014757.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000292599; ENSP00000292599; ENSG00000161021
ENST00000638220; ENSP00000491444; ENSG00000283780

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9794

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9794

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000292599.4; ENSP00000292599.3; NM_014757.5; NP_055572.1

UCSC genome browser

More...UCSCi		uc003mkm.3, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS34315.1
RefSeqiNP_055572.1, NM_014757.4

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2F8XX-ray3.25M13-74[»]
3NBNX-ray3.45C/F13-74[»]
3V79X-ray3.85M13-74[»]
6SMVX-ray2.14A1003-1016[»]
SMRiQ92585
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115138, 38 interactors
CORUMiQ92585
DIPiDIP-29920N
IntActiQ92585, 17 interactors
MINTiQ92585
STRINGi9606.ENSP00000292599

PTM databases

GlyGeniQ92585, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ92585
PhosphoSitePlusiQ92585

Genetic variation databases

BioMutaiMAML1
DMDMi68565602

Proteomic databases

EPDiQ92585
jPOSTiQ92585
MassIVEiQ92585
MaxQBiQ92585
PaxDbiQ92585
PeptideAtlasiQ92585
PRIDEiQ92585
ProteomicsDBi75342

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29514, 235 antibodies from 35 providers

The DNASU plasmid repository

More...DNASUi		9794

Genome annotation databases

EnsembliENST00000292599; ENSP00000292599; ENSG00000161021
ENST00000638220; ENSP00000491444; ENSG00000283780
GeneIDi9794
KEGGihsa:9794
MANE-SelectiENST00000292599.4; ENSP00000292599.3; NM_014757.5; NP_055572.1
UCSCiuc003mkm.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9794
DisGeNETi9794

GeneCards: human genes, protein and diseases

More...GeneCardsi		MAML1
HGNCiHGNC:13632, MAML1
HPAiENSG00000161021, Low tissue specificity
MIMi605424, gene
neXtProtiNX_Q92585
OpenTargetsiENSG00000161021
PharmGKBiPA30569
VEuPathDBiHostDB:ENSG00000161021

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QSU1, Eukaryota
GeneTreeiENSGT00950000183201
HOGENOMiCLU_008569_1_0_1
InParanoidiQ92585
OMAiMPNLSGQ
OrthoDBi177202at2759
PhylomeDBiQ92585
TreeFamiTF332922

Enzyme and pathway databases

PathwayCommonsiQ92585
ReactomeiR-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
SignaLinkiQ92585
SIGNORiQ92585

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9794, 23 hits in 1052 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MAML1, human
EvolutionaryTraceiQ92585

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MAML1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		9794
PharosiQ92585, Tbio

Protein Ontology

More...PROi		PR:Q92585
RNActiQ92585, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000161021, Expressed in sural nerve and 246 other tissues
GenevisibleiQ92585, HS

Family and domain databases

IDEALiIID00220
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMAML1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q92585
Secondary accession number(s): Q9NZ12
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again