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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 similarity5 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

  • chromatin binding Source: GO_Central
  • double-stranded DNA binding Source: UniProtKB
  • four-way junction DNA binding Source: UniProtKB
  • protein binding, bridging Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • R-SMAD binding Source: BHF-UCL
  • transcription regulatory region DNA binding Source: UniProtKB
  • Y-form DNA binding Source: UniProtKB

GO - Biological processi

<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

Reactome - a knowledgebase of biological pathways and processes

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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

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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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000133895.14

Human Gene Nomenclature Database

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HGNCi
HGNC:7010 MEN1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613733 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O00255

<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

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

<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)40 Publications
The disease is caused by mutations 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.
See also OMIM:131100
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_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:rs1114167491Ensembl.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. 4 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:rs1114167515Ensembl.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:rs1114167543Ensembl.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_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:rs1114167494Ensembl.1
Natural variantiVAR_005442181A → P in MEN1; loss of JUND-binding. 1 PublicationCorresponds to variant dbSNP:rs376872829Ensembl.1
Natural variantiVAR_005443184E → D in MEN1. 2 Publications1
Natural variantiVAR_039599184E → K in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs1064793167Ensembl.1
Natural variantiVAR_039600184E → Q in MEN1. 1 Publication1
Natural variantiVAR_039601186H → R in MEN1. 1 Publication1
Natural variantiVAR_005444188W → S in MEN1. 2 Publications1
Natural variantiVAR_039603220V → M in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs794728621Ensembl.1
Natural variantiVAR_005446228L → P in MEN1. 3 PublicationsCorresponds to variant dbSNP:rs886039415Ensembl.1
Natural variantiVAR_039604230G → R in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1057521110Ensembl.1
Natural variantiVAR_039605234R → L in MEN1. 1 Publication1
Natural variantiVAR_039606245V → F in MEN1. 1 Publication1
Natural variantiVAR_039607246C → F in MEN1. 1 Publication1
Natural variantiVAR_008018246C → R in MEN1. 1 Publication1
Natural variantiVAR_039608246C → Y in MEN1. 1 PublicationCorresponds to variant dbSNP:rs794728624Ensembl.1
Natural variantiVAR_005447247A → V in MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation. 2 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. 2 PublicationsCorresponds to variant dbSNP:rs1114167493Ensembl.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:rs1114167495Ensembl.1
Natural variantiVAR_039621322H → Y in MEN1. 2 Publications1
Natural variantiVAR_039622325P → L in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1114167469Ensembl.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:rs2071312Ensembl.1
Natural variantiVAR_039625342A → P in MEN1. 1 Publication1
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. 3 Publications1
Natural variantiVAR_039627353I → N in MEN1. 1 Publication1
Natural variantiVAR_039628358Y → D in MEN1. 1 Publication1
Natural variantiVAR_039629360R → W in MEN1. 1 Publication1
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 Publication1
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:rs1298484645Ensembl.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:rs1114167528Ensembl.1
Natural variantiVAR_039641441W → C in MEN1. 1 PublicationCorresponds to variant dbSNP:rs398124435Ensembl.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:rs104894259Ensembl.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

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
4221

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

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GeneReviewsi
MEN1

MalaCards human disease database

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MalaCardsi
MEN1
MIMi131100 phenotype

Open Targets

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OpenTargetsi
ENSG00000133895

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

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Orphaneti
99879 Familial isolated hyperparathyroidism
97279 Insulinoma
652 Multiple endocrine neoplasia type 1
314790 Null pituitary adenoma
2965 Prolactinoma
314786 Silent pituitary adenoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30746

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1615381

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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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.<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

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EPDi
O00255

MaxQB - The MaxQuant DataBase

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MaxQBi
O00255

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

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PaxDbi
O00255

PeptideAtlas

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PeptideAtlasi
O00255

PRoteomics IDEntifications database

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PRIDEi
O00255

ProteomicsDB human proteome resource

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ProteomicsDBi
47808
47809 [O00255-2]
47810 [O00255-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O00255

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

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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

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Bgeei
ENSG00000133895 Expressed in 201 organ(s), highest expression level in cerebellar hemisphere

CleanEx database of gene expression profiles

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CleanExi
HS_MEN1
HS_SCG2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O00255 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O00255 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA030342

<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_section">'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_section">'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. Interacts with SMAD3, but not with SMAD2, nor SMAD4. Directly interacts with NFKB1, NFKB2 and RELA.8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110384, 69 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-497 Menin-JUND transcription inhibition complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O00255

Database of interacting proteins

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DIPi
DIP-24236N

Protein interaction database and analysis system

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IntActi
O00255, 29 interactors

Molecular INTeraction database

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MINTi
O00255

STRING: functional protein association networks

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STRINGi
9606.ENSP00000337088

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
O00255

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O00255

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

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SMRi
O00255

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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

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eggNOGi
ENOG410IF2R Eukaryota
ENOG410ZNZF LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000014237

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000208

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O00255

KEGG Orthology (KO)

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KOi
K14970

Identification of Orthologs from Complete Genome Data

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OMAi
NNEHIYP

Database of Orthologous Groups

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OrthoDBi
EOG091G066V

Database for complete collections of gene phylogenies

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PhylomeDBi
O00255

TreeFam database of animal gene trees

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TreeFami
TF323888

Family and domain databases

Conserved Domains Database

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CDDi
cd14456 Menin, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR007747 Menin

The PANTHER Classification System

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PANTHERi
PTHR12693 PTHR12693, 1 hit

Pfam protein domain database

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 'canonical' 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
E7EN32E7EN32_HUMAN
Menin
MEN1
555Annotation 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>
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>
E7EPR4E7EPR4_HUMAN
Menin
MEN1
281Annotation 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>
E7ET29E7ET29_HUMAN
Menin
MEN1
346Annotation 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>

<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 at position 383. 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 at position 97. 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:rs1114167491Ensembl.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. 4 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:rs1114167515Ensembl.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:rs1114167543Ensembl.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 Publications1
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:rs1114167494Ensembl.1
Natural variantiVAR_005442181A → P in MEN1; loss of JUND-binding. 1 PublicationCorresponds to variant dbSNP:rs376872829Ensembl.1
Natural variantiVAR_005443184E → D in MEN1. 2 Publications1
Natural variantiVAR_039599184E → K in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs1064793167Ensembl.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 mutation 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 PublicationsCorresponds to variant dbSNP:rs794728621Ensembl.1
Natural variantiVAR_005446228L → P in MEN1. 3 PublicationsCorresponds to variant dbSNP:rs886039415Ensembl.1
Natural variantiVAR_039604230G → R in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1057521110Ensembl.1
Natural variantiVAR_039605234R → L in MEN1. 1 Publication1
Natural variantiVAR_039606245V → F in MEN1. 1 Publication1
Natural variantiVAR_039607246C → F in MEN1. 1 Publication1
Natural variantiVAR_008018246C → R in MEN1. 1 Publication1
Natural variantiVAR_039608246C → Y in MEN1. 1 PublicationCorresponds to variant dbSNP:rs794728624Ensembl.1
Natural variantiVAR_005447247A → V in MEN1; almost complete loss of histone methylation; loss of JUND-binding; no repression of JUND transactivation. 2 Publications1
Natural variantiVAR_039609258S → P in MEN1. 1 Publication1
Natural variantiVAR_039610258S → W in parathyroid tumor. 1 Publication1
Natural variantiVAR_005448260E → K Probable disease-associated mutation found in isolated hyperparathyroidism. 1 PublicationCorresponds to variant dbSNP:rs104894268EnsemblClinVar.1
Natural variantiVAR_039611264L → R in MEN1. 1 Publication1
Natural variantiVAR_039612265Q → P Probable disease-associated mutation found in isolated hyperparathyroidism. 1 Publication1
Natural variantiVAR_039613266Q → QLQ in MEN1. 1 Publication1
Natural variantiVAR_005449269L → P in MEN1. 1 Publication1
Natural variantiVAR_005450272L → P Probable disease-associated mutation found in isolated hyperparathyroidism. 1 Publication1
Natural variantiVAR_039614279E → A in parathyroid tumor. 1 Publication1
Natural variantiVAR_039615282P → H Probable disease-associated mutation found in isolated hyperparathyroidism. 1 PublicationCorresponds to variant dbSNP:rs1060499973Ensembl.1
Natural variantiVAR_039616286G → R in MEN1. 2 PublicationsCorresponds to variant dbSNP:rs1114167493Ensembl.1
Natural variantiVAR_005451289A → E in MEN1. 1 Publication1
Natural variantiVAR_039617289A → P in parathyroid tumor. 1 Publication1
Natural variantiVAR_005452291L → P in MEN1; almost no effect on JUND-binding. 1 Publication1
Natural variantiVAR_039618310G → D Probable disease-associated mutation found in isolated hyperparathyroidism. 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:rs1114167495Ensembl.1
Natural variantiVAR_039621322H → Y in MEN1. 2 Publications1
Natural variantiVAR_039622325P → L in MEN1. 1 PublicationCorresponds to variant dbSNP:rs1114167469Ensembl.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:rs2071312Ensembl.1
Natural variantiVAR_039625342A → P in MEN1. 1 Publication1
Natural variantiVAR_005456346W → R in MEN1. 1 Publication1
Natural variantiVAR_039626347A → P in MEN1. 1 Publication