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Aliases for MEN1 Gene

Aliases for MEN1 Gene

  • Menin 1 2 3 5
  • Multiple Endocrine Neoplasia I 2 3
  • SCG2 3 4
  • Menin 2
  • MEAI 3

External Ids for MEN1 Gene

Previous GeneCards Identifiers for MEN1 Gene

  • GC11P067708
  • GC11M066252
  • GC11M064346
  • GC11M064327
  • GC11M064570
  • GC11M060898

Summaries for MEN1 Gene

Entrez Gene Summary for MEN1 Gene

  • This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]

GeneCards Summary for MEN1 Gene

MEN1 (Menin 1) is a Protein Coding gene. Diseases associated with MEN1 include Multiple Endocrine Neoplasia 1 and Hyperparathyroidism, Familial Primary. Among its related pathways are Gene Expression and Signaling by Rho GTPases. GO annotations related to this gene include sequence-specific DNA binding and transcription regulatory region DNA binding.

UniProtKB/Swiss-Prot for MEN1 Gene

  • 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.

Gene Wiki entry for MEN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEN1 Gene

Genomics for MEN1 Gene

Regulatory Elements for MEN1 Gene

Enhancers for MEN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MEN1 on UCSC Golden Path with GeneCards custom track

Promoters for MEN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MEN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MEN1 Gene

Chromosome:
11
Start:
64,803,510 bp from pter
End:
64,811,294 bp from pter
Size:
7,785 bases
Orientation:
Minus strand

Genomic View for MEN1 Gene

Genes around MEN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEN1 Gene

Proteins for MEN1 Gene

  • Protein details for MEN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00255-MEN1_HUMAN
    Recommended name:
    Menin
    Protein Accession:
    O00255
    Secondary Accessions:
    • A5HBC6
    • A5HBC7
    • A5HBC8
    • A5HBC9
    • A5HBD0
    • A5HBD1
    • A5HBD2
    • O00632
    • Q9BUF0
    • Q9BUK2

    Protein attributes for MEN1 Gene

    Size:
    615 amino acids
    Molecular mass:
    68023 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=ABQ12624.1; Type=Frameshift; Positions=383; Note=The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred.; Evidence={ECO:0000305}; Sequence=ABQ12627.1; Type=Frameshift; Positions=97; Note=The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MEN1 Gene

    Alternative splice isoforms for MEN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MEN1 Gene

Proteomics data for MEN1 Gene at MOPED

Post-translational modifications for MEN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MEN1 (MEN1)

No data available for DME Specific Peptides for MEN1 Gene

Domains & Families for MEN1 Gene

Protein Domains for MEN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MEN1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MEN1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for MEN1 Gene

Function for MEN1 Gene

Molecular function for MEN1 Gene

GENATLAS Biochemistry:
menin,nuclear protein of unknown function,ubiquitously expressed,transcriptional repressor through interaction with the transcription factor JUND by an histone deacetylase dependent mechanism,mutated in multiple endocrine neoplasia 1,isolated hyperparathyroid tumor,gastrinoma,insulinoma,bronchial carcinoid
UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for MEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003690 double-stranded DNA binding IDA 15331604
genes like me logo Genes that share ontologies with MEN1: view
genes like me logo Genes that share phenotypes with MEN1: view

Human Phenotype Ontology for MEN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MEN1 Gene

MGI Knock Outs for MEN1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MEN1 Gene

Localization for MEN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEN1 Gene

Nucleus. Note=Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MEN1 Gene COMPARTMENTS Subcellular localization image for MEN1 gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 2
cytoskeleton 1
extracellular 1
golgi apparatus 1
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035097 histone methyltransferase complex IPI 14992727
genes like me logo Genes that share ontologies with MEN1: view

Pathways & Interactions for MEN1 Gene

genes like me logo Genes that share pathways with MEN1: view

Pathways by source for MEN1 Gene

SIGNOR curated interactions for MEN1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for MEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 9989505
GO:0000278 mitotic cell cycle IEA --
GO:0001933 negative regulation of protein phosphorylation IDA 12226747
GO:0002076 osteoblast development IGI 15563473
GO:0003309 type B pancreatic cell differentiation IEA --
genes like me logo Genes that share ontologies with MEN1: view

Drugs & Compounds for MEN1 Gene

(25) Drugs for MEN1 Gene - From: ClinicalTrials, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1835
Miconazole Approved, Investigational Pharma Antagonist, Pore Blocker 3525
Pancrelipase Approved Pharma 894
Sirolimus Approved, Investigational Pharma Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1835
Sunitinib Approved, Investigational Pharma VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor, RTK inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors, Potent VEGFR, PDGFRbeta and KIT inhibitor 490

(3) Additional Compounds for MEN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for MEN1 Gene

Compound Action Cas Number
MI-2 Menin-MLL Inhibitor 1271738-62-5
genes like me logo Genes that share compounds with MEN1: view

Transcripts for MEN1 Gene

Unigene Clusters for MEN1 Gene

Multiple endocrine neoplasia I:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MEN1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b
SP1: - - - - - - - -
SP2: - - - - - - -
SP3:
SP4: - - -
SP5: - - - - - - - -
SP6: - - - -
SP7: - -
SP8:
SP9:

Relevant External Links for MEN1 Gene

GeneLoc Exon Structure for
MEN1
ECgene alternative splicing isoforms for
MEN1

Expression for MEN1 Gene

mRNA expression in normal human tissues for MEN1 Gene

Protein differential expression in normal tissues from HIPED for MEN1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.1), Lymph node (13.3), and CD8 Tcells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MEN1 Gene



SOURCE GeneReport for Unigene cluster for MEN1 Gene Hs.423348

mRNA Expression by UniProt/SwissProt for MEN1 Gene

O00255-MEN1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with MEN1: view

Protein tissue co-expression partners for MEN1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MEN1 Gene

Orthologs for MEN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MEN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MEN1 35
  • 90.93 (n)
  • 98.69 (a)
MEN1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MEN1 35
  • 90.73 (n)
  • 98.37 (a)
MEN1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Men1 35
  • 88.96 (n)
  • 96.72 (a)
Men1 16
Men1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MEN1 35
  • 99.57 (n)
  • 99.67 (a)
MEN1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Men1 35
  • 88.47 (n)
  • 97.05 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia MEN1 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MEN1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia men1 35
  • 66.6 (n)
  • 73.94 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
men1 35
  • 67.69 (n)
  • 72.65 (a)
men1 36
  • 66 (a)
OneToMany
men1 36
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mnn1 37
  • 46 (a)
Mnn1 35
  • 57.29 (n)
  • 51.16 (a)
Mnn1 36
  • 35 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008130 35
  • 60.14 (n)
  • 53.68 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for MEN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MEN1 Gene

ENSEMBL:
Gene Tree for MEN1 (if available)
TreeFam:
Gene Tree for MEN1 (if available)

Paralogs for MEN1 Gene

No data available for Paralogs for MEN1 Gene

Variants for MEN1 Gene

Sequence variations from dbSNP and Humsavar for MEN1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_005425 Familial multiple endocrine neoplasia type I (MEN1)
VAR_005426 Familial multiple endocrine neoplasia type I (MEN1)
rs28931612 Familial multiple endocrine neoplasia type I (MEN1) 64,810,034(-) CTGCC(A/G)AGCTG reference, missense
VAR_005428 Familial multiple endocrine neoplasia type I (MEN1)
VAR_005429 Familial multiple endocrine neoplasia type I (MEN1)

Structural Variations from Database of Genomic Variants (DGV) for MEN1 Gene

Variant ID Type Subtype PubMed ID
nsv897694 CNV Loss 21882294
nsv528506 CNV Loss 19592680
dgv1171n71 CNV Loss 21882294
dgv1172n71 CNV Loss 21882294
dgv153n27 CNV Loss 19166990
nsv832189 CNV Loss 17160897
nsv469962 CNV Loss 18288195
nsv897702 CNV Loss 21882294
nsv897703 CNV Loss 21882294
dgv72n21 CNV Loss 19592680
nsv825949 CNV Gain 20364138

Variation tolerance for MEN1 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.43; 28.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MEN1 Gene

Human Gene Mutation Database (HGMD)
MEN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEN1 Gene

Disorders for MEN1 Gene

MalaCards: The human disease database

(59) MalaCards diseases for MEN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
multiple endocrine neoplasia 1
  • multiple endocrine neoplasia type 1
hyperparathyroidism, familial primary
  • hyperparathyroidism 3
hyperparathyroidism 3
  • familial primary hyperparathyroidism
multiple endocrine neoplasia
  • multiple endocrine neoplasia type 1
prolactinoma
  • pituitary adenoma, prolactin-secreting
- elite association - COSMIC cancer census association via MalaCards
Search MEN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MEN1_HUMAN
  • Familial isolated hyperparathyroidism (FIHP) [MIM:145000]: Autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors. {ECO:0000269 PubMed:10634381, ECO:0000269 PubMed:10664521, ECO:0000269 PubMed:12016470, ECO:0000269 PubMed:12699448, ECO:0000269 PubMed:9792884, ECO:0000269 PubMed:9843042, ECO:0000269 PubMed:9888389}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]: Autosomal 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. {ECO:0000269 PubMed:10090472, ECO:0000269 PubMed:10229909, ECO:0000269 PubMed:10534569, ECO:0000269 PubMed:10576763, ECO:0000269 PubMed:10617276, ECO:0000269 PubMed:10660339, ECO:0000269 PubMed:10664520, ECO:0000269 PubMed:10849016, ECO:0000269 PubMed:10993647, ECO:0000269 PubMed:11102994, ECO:0000269 PubMed:11134142, ECO:0000269 PubMed:11241849, ECO:0000269 PubMed:12050235, ECO:0000269 PubMed:12112656, ECO:0000269 PubMed:12417605, ECO:0000269 PubMed:12652570, ECO:0000269 PubMed:12746426, ECO:0000269 PubMed:12791038, ECO:0000269 PubMed:14686752, ECO:0000269 PubMed:14992727, ECO:0000269 PubMed:15714081, ECO:0000269 PubMed:15730416, ECO:0000269 PubMed:17555499, ECO:0000269 PubMed:9103196, ECO:0000269 PubMed:9215689, ECO:0000269 PubMed:9215690, ECO:0000269 PubMed:9463336, ECO:0000269 PubMed:9506756, ECO:0000269 PubMed:9671267, ECO:0000269 PubMed:9683585, ECO:0000269 PubMed:9709921, ECO:0000269 PubMed:9709976, ECO:0000269 PubMed:9709985, ECO:0000269 PubMed:9740255, ECO:0000269 PubMed:9747036, ECO:0000269 PubMed:9820618, ECO:0000269 PubMed:9832038, ECO:0000269 PubMed:9888389, ECO:0000269 PubMed:9989505}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for MEN1 Gene

endocrine neoplasia,multiple,type 1,hyperparathyroidism,gastrinoma,somatotrophinoma,prolactinoma,Wermer syndrome (MEN1 defect),including somatic mutations in sporadic neuroendocrine and pancreatic tumors,and carcinoid tumors of lungs and in fore foregut neoplasms,excluding the sporadic hyperplastic or neoplastic lesions of the adrenal cortex

Relevant External Links for MEN1

Genetic Association Database (GAD)
MEN1
Human Genome Epidemiology (HuGE) Navigator
MEN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MEN1
genes like me logo Genes that share disorders with MEN1: view

Publications for MEN1 Gene

  1. Identification of MEN1 and HRPT2 somatic mutations in paraffin- embedded (sporadic) parathyroid carcinomas. (PMID: 17555500) Haven C.J. … Morreau H. (Clin. Endocrinol. (Oxf.) 2007) 3 4 48 67
  2. Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age? (PMID: 20058152) Skandarajah A. … Henry J.F. (World J Surg 2010) 3 23
  3. Decreased expression and promoter methylation of the menin tumor suppressor in pancreatic ductal adenocarcinoma. (PMID: 19170121) Cavallari I. … D'Agostino D.M. (Genes Chromosomes Cancer 2009) 3 23
  4. Recapitulation of pancreatic neuroendocrine tumors in human multiple endocrine neoplasia type I syndrome via Pdx1-directed inactivation of Men1. (PMID: 19208834) Shen H.C. … Libutti S.K. (Cancer Res. 2009) 3 23
  5. An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein. (PMID: 19391077) Drori-Herishanu L. … Stratakis C.A. (Horm. Metab. Res. 2009) 3 23

Products for MEN1 Gene

Sources for MEN1 Gene

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