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UniProtKB - O00255 (MEN1_HUMAN)

Entry version 207 (07 Apr 2021)
Sequence version 4 (11 Jan 2011)
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Protein

Menin

Gene

MEN1

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

Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair.By similarity6 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 functionChromatin regulator, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O00255

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-201722, Formation of the beta-catenin:TCF transactivating complex
R-HSA-2173796, SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
R-HSA-3769402, Deactivation of the beta-catenin transactivating complex
R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-5626467, RHO GTPases activate IQGAPs
R-HSA-8957275, Post-translational protein phosphorylation

SIGNOR Signaling Network Open Resource

More...SIGNORi		O00255

<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:
Menin
<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:MEN1
Synonyms:SCG2
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7010, MEN1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613733, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O00255

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000133895.14

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Familial multiple endocrine neoplasia type I (MEN1)41 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAutosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia.
Related information in OMIM
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_00542512P → L in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 PublicationsCorresponds to variant dbSNP:rs794728614EnsemblClinVar.1
Natural variantiVAR_00542622L → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; no repression of JUND transactivation. 3 PublicationsCorresponds to variant dbSNP:rs104894256EnsemblClinVar.1
Natural variantiVAR_00542726E → K in parathyroid adenoma and MEN1. 2 PublicationsCorresponds to variant dbSNP:rs28931612EnsemblClinVar.1
Natural variantiVAR_00542839L → W in MEN1. 3 Publications1
Natural variantiVAR_00542942G → D in MEN1. 2 Publications1
Natural variantiVAR_00543045E → G in MEN1. 1 Publication1
Natural variantiVAR_03958745E → K in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs1114167491EnsemblClinVar.1
Natural variantiVAR_06515289 – 95Missing in MEN1. 1 Publication7
Natural variantiVAR_03958898R → L in MEN1. 1 Publication1
Natural variantiVAR_039589110G → E in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1389398299Ensembl.1
Natural variantiVAR_005431119Missing in MEN1. 4 Publications1
Natural variantiVAR_005434135K → I in MEN1. 1 Publication1
Natural variantiVAR_005432139H → D in MEN1; almost complete loss of histone methylation; strong decrease in JUND-binding; no repression of JUND transactivation; reduced interaction with KMT2A. 5 PublicationsCorresponds to variant dbSNP:rs104894263EnsemblClinVar.1
Natural variantiVAR_039590139H → P in MEN1. 1 Publication1
Natural variantiVAR_039591139H → R in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1114167515EnsemblClinVar.1
Natural variantiVAR_005433139H → Y in MEN1; familial and sporadic cases; almost no effect on JUND-binding; no repression of JUND transactivation. 1 Publication1
Natural variantiVAR_005436144F → V in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1114167543EnsemblClinVar.1
Natural variantiVAR_065153147I → F in MEN1. 1 Publication1
Natural variantiVAR_039592158D → V in MEN1; also found in isolated hyperparathyroidism. 1 Publication1
Natural variantiVAR_039593159S → I in MEN1. 1 Publication1
Natural variantiVAR_039594160S → F in MEN1. 1 Publication1
Natural variantiVAR_008017161G → D in MEN1 and parathyroid tumor. 3 PublicationsCorresponds to variant dbSNP:rs794728648EnsemblClinVar.1
Natural variantiVAR_005437165A → P in MEN1; strong decrease in JUND-binding. 3 Publications1
Natural variantiVAR_039595165A → T in MEN1. 1 Publication1
Natural variantiVAR_039596167V → F in MEN1. 1 Publication1
Natural variantiVAR_005438169A → D in MEN1. 2 Publications1
Natural variantiVAR_039597170C → R in MEN1. 2 Publications1
Natural variantiVAR_005439171 – 173Missing in MEN1. 1 Publication3
Natural variantiVAR_039598173L → P in MEN1. 1 PublicationCorresponds to variant dbSNP:rs386134256EnsemblClinVar.1
Natural variantiVAR_005441177D → Y in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs1114167494EnsemblClinVar.1
Natural variantiVAR_005442181A → P in MEN1; loss of JUND-binding. 1 PublicationCorresponds to variant dbSNP:rs376872829EnsemblClinVar.1
Natural variantiVAR_005443184E → D in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs1555165811EnsemblClinVar.1
Natural variantiVAR_039599184E → K in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs1064793167EnsemblClinVar.1
Natural variantiVAR_039600184E → Q in MEN1. 1 Publication1
Natural variantiVAR_039601186H → R in MEN1. 1 Publication1
Natural variantiVAR_039602188W → R in MEN1 and parathyroid tumor. 2 PublicationsCorresponds to variant dbSNP:rs794728649Ensembl.1
Natural variantiVAR_005444188W → S in MEN1. 2 Publications1
Natural variantiVAR_039603220V → M in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs794728621EnsemblClinVar.1
Natural variantiVAR_005446228L → P in MEN1. 3 PublicationsCorresponds to variant dbSNP:rs886039415EnsemblClinVar.1
Natural variantiVAR_039604230G → R in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1057521110EnsemblClinVar.1
Natural variantiVAR_039605234R → L in MEN1. 1 Publication1
Natural variantiVAR_039606245V → F in MEN1. 1 Publication1
Natural variantiVAR_039607246C → F in MEN1; loss of interaction with KMT2A and JUND. 2 Publications1
Natural variantiVAR_008018246C → R in MEN1. 1 Publication1
Natural variantiVAR_039608246C → Y in MEN1. 1 PublicationCorresponds to variant dbSNP:rs794728624EnsemblClinVar.1
Natural variantiVAR_005447247A → V in MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation; reduced interaction with KMT2A. 3 Publications1
Natural variantiVAR_039609258S → P in MEN1. 1 Publication1
Natural variantiVAR_039611264L → R in MEN1. 1 Publication1
Natural variantiVAR_039613266Q → QLQ in MEN1. 1 Publication1
Natural variantiVAR_005449269L → P in MEN1. 1 Publication1
Natural variantiVAR_039616286G → R in MEN1; loss of interaction with KMT2A and JUND. 3 PublicationsCorresponds to variant dbSNP:rs1114167493EnsemblClinVar.1
Natural variantiVAR_005451289A → E in MEN1. 1 Publication1
Natural variantiVAR_005452291L → P in MEN1; almost no effect on JUND-binding. 1 Publication1
Natural variantiVAR_005453314A → P in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 Publications1
Natural variantiVAR_039619316T → P in MEN1. 2 Publications1
Natural variantiVAR_005454319R → P in MEN1. 1 Publication1
Natural variantiVAR_039620322H → R in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs1114167495EnsemblClinVar.1
Natural variantiVAR_039621322H → Y in MEN1. 2 Publications1
Natural variantiVAR_039622325P → L in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1114167469EnsemblClinVar.1
Natural variantiVAR_039623325P → R in MEN1. 1 Publication1
Natural variantiVAR_039624330A → P in MEN1. 1 Publication1
Natural variantiVAR_005455342A → D in MEN1. 1 PublicationCorresponds to variant dbSNP:rs2071312EnsemblClinVar.1
Natural variantiVAR_039625342A → P in MEN1. 1 PublicationCorresponds to variant dbSNP:rs2071312EnsemblClinVar.1
Natural variantiVAR_005456346W → R in MEN1. 1 Publication1
Natural variantiVAR_039626347A → P in MEN1. 1 Publication1
Natural variantiVAR_005457349T → R in MEN1; almost complete loss of histone methylation; almost no effect on JUND-binding; yields insoluble protein. 4 Publications1
Natural variantiVAR_039627353I → N in MEN1. 1 Publication1
Natural variantiVAR_039628358Y → D in MEN1. 1 Publication1
Natural variantiVAR_039629360R → W in MEN1. 1 PublicationCorresponds to variant dbSNP:rs863224807EnsemblClinVar.1
Natural variantiVAR_039630362D → H in MEN1. 1 Publication1
Natural variantiVAR_005458364E → K in MEN1. 1 PublicationCorresponds to variant dbSNP:rs387906552Ensembl.1
Natural variantiVAR_005459368Missing in MEN1. 2 Publications1
Natural variantiVAR_005460373A → D in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1555164707EnsemblClinVar.1
Natural variantiVAR_039631377I → M in MEN1. 1 Publication1
Natural variantiVAR_039632378P → S in MEN1. 1 Publication1
Natural variantiVAR_039633390A → V in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1298484645EnsemblClinVar.1
Natural variantiVAR_039634416A → P in MEN1; also found in isolated hyperparathyroidism. 1 Publication1
Natural variantiVAR_065155418L → R in MEN1. 1 Publication1
Natural variantiVAR_039635419L → P in MEN1. 2 Publications1
Natural variantiVAR_039636420R → P in MEN1. 1 Publication1
Natural variantiVAR_005463423 – 426Missing in MEN1. 4
Natural variantiVAR_039637423D → H in MEN1. 1 PublicationCorresponds to variant dbSNP:rs104894264EnsemblClinVar.1
Natural variantiVAR_005461423D → N in MEN1. 4 PublicationsCorresponds to variant dbSNP:rs104894264EnsemblClinVar.1
Natural variantiVAR_005462423Missing in MEN1. 1
Natural variantiVAR_039638426C → Y in MEN1. 1 PublicationCorresponds to variant dbSNP:rs386134249EnsemblClinVar.1
Natural variantiVAR_039639428W → S in MEN1. 1 Publication1
Natural variantiVAR_039640432S → R in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1114167528EnsemblClinVar.1
Natural variantiVAR_039641441W → C in MEN1. 1 PublicationCorresponds to variant dbSNP:rs398124435EnsemblClinVar.1
Natural variantiVAR_005464441W → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; modest repression of JUND transactivation. 4 PublicationsCorresponds to variant dbSNP:rs104894259EnsemblClinVar.1
Natural variantiVAR_039642449L → P in MEN1. 1 Publication1
Natural variantiVAR_005465452F → S in MEN1; sporadic; with Zollinger-Ellison syndrome. 1
Natural variantiVAR_065156476W → C in MEN1. 1 Publication1
Natural variantiVAR_039643532R → C in MEN1. 1 Publication1
Natural variantiVAR_039644545P → S in MEN1. 1 PublicationCorresponds to variant dbSNP:rs745404679Ensembl.1
Natural variantiVAR_039645549P → S in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1387157979Ensembl.1
Natural variantiVAR_005467560S → N in MEN1. 1 PublicationCorresponds to variant dbSNP:rs863224527Ensembl.1
Natural variantiVAR_039647560S → R in MEN1. 1 Publication1
MEN1 inactivating mutations are responsible for hyperfunctioning of the parathyroid glands and subsequent primary hyperparathyroidism. Primary hyperparathyroidism can occur in isolation or in association with multiple endocrine neoplasia.7 Publications

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi187A → F: Reduced interaction with KMT2A. 1 Publication1
Mutagenesisi283M → W: Loss of interaction with KMT2A and JUND. 1 Publication1
Mutagenesisi290D → R: Reduced interaction with KMT2A; when associated with R-293 and R-295. 1 Publication1
Mutagenesisi293E → R: Reduced interaction with KMT2A; when associated with R-290 and R-295. 1 Publication1
Mutagenesisi295E → R: Reduced interaction with KMT2A; when associated with R-290 and R-293. 1 Publication1
Mutagenesisi324Y → A: Reduced interaction with KMT2A. 1 Publication1
Mutagenesisi328Y → A: Reduced interaction with KMT2A. 1 Publication1
Mutagenesisi371E → A: Reduced interaction with KMT2A; when associated with A-375. 1 Publication1
Mutagenesisi375D → A: Reduced interaction with KMT2A; when associated with A-371. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		4221

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		MEN1

MalaCards human disease database

More...MalaCardsi		MEN1
MIMi131100, phenotype

Open Targets

More...OpenTargetsi		ENSG00000133895

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		99879, Familial isolated hyperparathyroidism
97279, Insulinoma
652, Multiple endocrine neoplasia type 1
314790, Null pituitary adenoma
99725, Pituitary gigantism
2965, Prolactinoma
314786, Silent pituitary adenoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30746

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O00255, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1615381

DrugCentral

More...DrugCentrali		O00255

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MEN1

<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_00000964111 – 615MeninAdd BLAST615

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 residuei492PhosphoserineCombined sources1
Modified residuei548PhosphoserineCombined sources1
Modified residuei599PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O00255

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O00255

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O00255

MaxQB - The MaxQuant DataBase

More...MaxQBi		O00255

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

More...PaxDbi		O00255

PeptideAtlas

More...PeptideAtlasi		O00255

PRoteomics IDEntifications database

More...PRIDEi		O00255

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		47808 [O00255-1]
47809 [O00255-2]
47810 [O00255-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O00255

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

More...PhosphoSitePlusi		O00255

<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

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000133895, Expressed in cerebellar hemisphere and 212 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O00255, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O00255, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000133895, 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

Component of the MLL-HCF complex, at least composed of KMT2A/MLL1, MEN1, ASH2L, RBBP5, DPY30, WDR5, HCFC1 and HCFC2.

Component of the menin-associated histone methyltransferase complex, at least composed of KMT2B/MLL4, MEN1, ASH2L, RBBP5, DPY30 and WDR5.

Interacts with POLR2B.

Interacts with POLR2A phosphorylated at 'Ser-5', but not with the unphosphorylated, nor 'Ser-2' phosphorylated POLR2A forms.

Interacts with FANCD2 and DBF4.

Interacts with JUND (via MBM motif); inhibits the interaction of JUND with MAPK10 and the phosphorylation of JUND by MAP kinases MAPK8 and MAPK10 (PubMed:9989505, PubMed:22327296).

Interacts with SMAD3, but not with SMAD2, nor SMAD4. Directly interacts with NFKB1, NFKB2 and RELA.

Interacts with KMT2A (via MBM motif) (PubMed:25305204, PubMed:22936661, PubMed:22327296). The KMT2A-MEN1 complex interacts with PSIP1 with a greater affinity as MEN1 enhances interaction of KMT2A with PSIP1 (PubMed:25305204, PubMed:22327296).

Interacts with the fusion protein KMT2A-MLLT3 (PubMed:25305204, PubMed:22936661).

11 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

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110384, 86 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-497, Menin-JUND transcription inhibition complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O00255

Database of interacting proteins

More...DIPi		DIP-24236N

Protein interaction database and analysis system

More...IntActi		O00255, 31 interactors

Molecular INTeraction database

More...MINTi		O00255

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000337088

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O00255

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O00255, 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

1615
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		O00255

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<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>Regioni219 – 395Interaction with FANCD21 PublicationAdd BLAST177

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QUYK, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000014237

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_018646_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O00255

Identification of Orthologs from Complete Genome Data

More...OMAi		FHSEKMK

Database of Orthologous Groups

More...OrthoDBi		799417at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O00255

TreeFam database of animal gene trees

More...TreeFami		TF323888

Family and domain databases

Conserved Domains Database

More...CDDi		cd14456, Menin, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00404

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007747, Menin

The PANTHER Classification System

More...PANTHERi		PTHR12693, PTHR12693, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05053, Menin, 2 hits

<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>Sequences (3+)i

<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.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O00255-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGLKAAQKTL FPLRSIDDVV RLFAAELGRE EPDLVLLSLV LGFVEHFLAV 
        60         70         80         90        100
NRVIPTNVPE LTFQPSPAPD PPGGLTYFPV ADLSIIAALY ARFTAQIRGA 
       110        120        130        140        150
VDLSLYPREG GVSSRELVKK VSDVIWNSLS RSYFKDRAHI QSLFSFITGW 
       160        170        180        190        200
SPVGTKLDSS GVAFAVVGAC QALGLRDVHL ALSEDHAWVV FGPNGEQTAE 
       210        220        230        240        250
VTWHGKGNED RRGQTVNAGV AERSWLYLKG SYMRCDRKME VAFMVCAINP 
       260        270        280        290        300
SIDLHTDSLE LLQLQQKLLW LLYDLGHLER YPMALGNLAD LEELEPTPGR 
       310        320        330        340        350
PDPLTLYHKG IASAKTYYRD EHIYPYMYLA GYHCRNRNVR EALQAWADTA 
       360        370        380        390        400
TVIQDYNYCR EDEEIYKEFF EVANDVIPNL LKEAASLLEA GEERPGEQSQ 
       410        420        430        440        450
GTQSQGSALQ DPECFAHLLR FYDGICKWEE GSPTPVLHVG WATFLVQSLG 
       460        470        480        490        500
RFEGQVRQKV RIVSREAEAA EAEEPWGEEA REGRRRGPRR ESKPEEPPPP 
       510        520        530        540        550
KKPALDKGLG TGQGAVSGPP RKPPGTVAGT ARGPEGGSTA QVPAPTASPP 
       560        570        580        590        600
PEGPVLTFQS EKMKGMKELL VATKINSSAI KLQLTAQSQV QMKKQKVSTP 
       610 
SDYTLSFLKR QRKGL
Length:615
Mass (Da):68,023
Last modified:January 11, 2011 - v4
<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:iDDDF850EA5AB77B4
GO
Isoform 2 (identifier: O00255-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     149-153: Missing.

Show »
Length:610
Mass (Da):67,497
Checksum:i9BF844C0302B43EF
GO
Isoform 3 (identifier: O00255-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-153: Missing.
     189-223: Missing.

Show »
Length:575
Mass (Da):63,748
Checksum:i3A06BE24447818A3
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A5F9ZHS3A0A5F9ZHS3_HUMAN
Menin
MEN1
652Annotation score:

Annotation score:3 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>
E7EN32E7EN32_HUMAN
Menin
MEN1
555Annotation score:

Annotation score:2 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>
Q9GZQ5Q9GZQ5_HUMAN
Menin
MEN1
146Annotation score:

Annotation score:1 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>
E7ENS2E7ENS2_HUMAN
Menin
MEN1
261Annotation score:

Annotation score:1 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>
A0A5F9ZI68A0A5F9ZI68_HUMAN
Menin
MEN1
259Annotation score:

Annotation score:1 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>

<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 ABQ12624 differs from that shown. Reason: Frameshift. The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred.Curated
The sequence ABQ12627 differs from that shown. Reason: Frameshift. The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00542512P → L in MEN1; no effect on histone methylation; almost no effect on JUND-binding. 2 PublicationsCorresponds to variant dbSNP:rs794728614EnsemblClinVar.1
Natural variantiVAR_00542622L → R in MEN1; no effect on histone methylation; almost no effect on JUND-binding; no repression of JUND transactivation. 3 PublicationsCorresponds to variant dbSNP:rs104894256EnsemblClinVar.1
Natural variantiVAR_00542726E → K in parathyroid adenoma and MEN1. 2 PublicationsCorresponds to variant dbSNP:rs28931612EnsemblClinVar.1
Natural variantiVAR_00542839L → W in MEN1. 3 Publications1
Natural variantiVAR_00542942G → D in MEN1. 2 Publications1
Natural variantiVAR_00543045E → G in MEN1. 1 Publication1
Natural variantiVAR_03958745E → K in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs1114167491EnsemblClinVar.1
Natural variantiVAR_06515289 – 95Missing in MEN1. 1 Publication7
Natural variantiVAR_03958898R → L in MEN1. 1 Publication1
Natural variantiVAR_039589110G → E in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1389398299Ensembl.1
Natural variantiVAR_005431119Missing in MEN1. 4 Publications1
Natural variantiVAR_005434135K → I in MEN1. 1 Publication1
Natural variantiVAR_005432139H → D in MEN1; almost complete loss of histone methylation; strong decrease in JUND-binding; no repression of JUND transactivation; reduced interaction with KMT2A. 5 PublicationsCorresponds to variant dbSNP:rs104894263EnsemblClinVar.1
Natural variantiVAR_039590139H → P in MEN1. 1 Publication1
Natural variantiVAR_039591139H → R in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1114167515EnsemblClinVar.1
Natural variantiVAR_005433139H → Y in MEN1; familial and sporadic cases; almost no effect on JUND-binding; no repression of JUND transactivation. 1 Publication1
Natural variantiVAR_005436144F → V in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1114167543EnsemblClinVar.1
Natural variantiVAR_065153147I → F in MEN1. 1 Publication1
Natural variantiVAR_065154157L → W in parathyroid tumors; somatic. 1 Publication1
Natural variantiVAR_039592158D → V in MEN1; also found in isolated hyperparathyroidism. 1 Publication1
Natural variantiVAR_039593159S → I in MEN1. 1 Publication1
Natural variantiVAR_039594160S → F in MEN1. 1 Publication1
Natural variantiVAR_008017161G → D in MEN1 and parathyroid tumor. 3 PublicationsCorresponds to variant dbSNP:rs794728648EnsemblClinVar.1
Natural variantiVAR_005437165A → P in MEN1; strong decrease in JUND-binding. 3 Publications1
Natural variantiVAR_039595165A → T in MEN1. 1 Publication1
Natural variantiVAR_039596167V → F in MEN1. 1 Publication1
Natural variantiVAR_005438169A → D in MEN1. 2 Publications1
Natural variantiVAR_039597170C → R in MEN1. 2 Publications1
Natural variantiVAR_005439171 – 173Missing in MEN1. 1 Publication3
Natural variantiVAR_039598173L → P in MEN1. 1 PublicationCorresponds to variant dbSNP:rs386134256EnsemblClinVar.1
Natural variantiVAR_005440176R → Q6 PublicationsCorresponds to variant dbSNP:rs607969Ensembl.1
Natural variantiVAR_005441177D → Y in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs1114167494EnsemblClinVar.1
Natural variantiVAR_005442181A → P in MEN1; loss of JUND-binding. 1 PublicationCorresponds to variant dbSNP:rs376872829EnsemblClinVar.1
Natural variantiVAR_005443184E → D in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs1555165811EnsemblClinVar.1
Natural variantiVAR_039599184E → K in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs1064793167EnsemblClinVar.1
Natural variantiVAR_039600184E → Q in MEN1. 1 Publication1
Natural variantiVAR_039601186H → R in MEN1. 1 Publication1
Natural variantiVAR_039602188W → R in MEN1 and parathyroid tumor. 2 PublicationsCorresponds to variant dbSNP:rs794728649Ensembl.1
Natural variantiVAR_005444188W → S in MEN1. 2 Publications1
Natural variantiVAR_005445189V → E Probable disease-associated variant found in isolated hyperparathyroidism. 1 PublicationCorresponds to variant dbSNP:rs104894262EnsemblClinVar.1
Natural variantiVAR_064937220V → F Found in a parathyroid carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_039603220V → M in MEN1. 2 Publications