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MEN1 Gene

protein-coding   GIFtS: 66
GCID: GC11M064570

Multiple Endocrine Neoplasia I

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Multiple Endocrine Neoplasia I1 2
menin1 2
SCG22 3
MEAI2

External Ids:    HGNC: 70101   Entrez Gene: 42212   Ensembl: ENSG000001338957   OMIM: 6137335   UniProtKB: O002553   

Export aliases for MEN1 gene to outside databases

Previous GC identifers: GC11P067708 GC11M066252 GC11M064821 GC11M064346 GC11M064327 GC11M060898


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (multiple endocrine neoplasia I) is a protein-coding gene. Diseases associated with MEN1 include zollinger-ellison syndrome, and primary hyperparathyroidism. GO annotations related to this gene include sequence-specific DNA binding and transcription regulatory region DNA binding.

UniProtKB/Swiss-Prot: MEN1_HUMAN, O00255
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 Wiki entry for MEN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MEN1 gene promoter:
         PPAR-gamma1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MEN1 promoter sequence
   Search Chromatin IP Primers for MEN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MEN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

MEN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MEN1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M064570:  view genomic region     (about GC identifiers)

Start:
64,570,982 bp from pter      End:
64,578,766 bp from pter
Size:
7,785 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MEN1_HUMAN, O00255 (See protein sequence)
Recommended Name: Menin  
Size: 615 amino acids; 68023 Da
Subunit: 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
Sequence caution: Sequence=ABQ12624.1; Type=Frameshift; Positions=383; Note=The frameshift is caused by a single
nucleotide deletion which is found in a MEN1 kindred; Sequence=ABQ12627.1; Type=Frameshift; Positions=97;
Note=The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred;
Selected PDB 3D structures from and Proteopedia for MEN1 (see all 9):
3U84 (3D)        3U85 (3D)        3U86 (3D)        3U88 (3D)        4GPQ (3D)        4GQ3 (3D)    
Secondary accessions: A5HBC6 A5HBC7 A5HBC8 A5HBC9 A5HBD0 A5HBD1 A5HBD2 O00632 Q9BUF0 Q9BUK2
Alternative splicing: 3 isoforms:  O00255-1   O00255-2   O00255-3   

Explore the universe of human proteins at neXtProt for MEN1: NX_O00255

Explore proteomics data for MEN1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MEN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_000235.2  NP_570711.1  NP_570712.1  NP_570713.1  NP_570714.1  NP_570715.1  NP_570716.1  

    ENSEMBL proteins: 
     ENSP00000366533   ENSP00000366538   ENSP00000366543   ENSP00000308975   ENSP00000323747  
     ENSP00000366530   ENSP00000413944   ENSP00000394933   ENSP00000411218   ENSP00000402752  
     ENSP00000388016   ENSP00000337088   ENSP00000377901   ENSP00000377899   ENSP00000396940  
    Reactome Protein details: O00255

    MEN1 Human Recombinant Protein Products:

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    Novus Biologicals MEN1 Proteins
    Novus Biologicals MEN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MEN1

    MEN1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for MEN1 (Menin)
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    Abcam antibodies for MEN1
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    LSBio Antibodies in human, mouse, rat for MEN1

    MEN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MEN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MEN1
    Cloud-Clone Corp. CLIAs for MEN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007747 Menin

    Graphical View of Domain Structure for InterPro Entry O00255

    ProtoNet protein and cluster: O00255


    MEN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MEN1_HUMAN, O00255
    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

         Genatlas biochemistry entry for MEN1:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000400four-way junction DNA binding IDA15331604
    GO:0000403Y-form DNA binding IDA15331604
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003690double-stranded DNA binding IDA15331604
         
    MEN1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MEN1:
     Decreased viability  Decreased viability with pacli  Enable proliferation in B-Raf  

         15 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Men1):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  muscle  nervous system  reproductive system  tumorigenesis 

    MEN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MEN1: Men1tm1Rvt Men1tm1.1Ctre Men1tm1.1Zqw Men1tm1.1Gfk Men1tm1Zqw Men1tm1Mmey
                                                         Men1tm2.1Gfk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MEN1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MEN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MEN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MEN1:
    hsa-mir-17-5p (MIRT050813), hsa-mir-92a-3p (MIRT049455), hsa-mir-18a-3p (MIRT040940)

    Block miRNA regulation of human, mouse, rat MEN1 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate MEN1:
    hsa-miR-3155 hsa-miR-1238 hsa-miR-24 hsa-miR-3155b hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmidMEN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MEN1
    Predesigned siRNA for gene silencing in human, mouse, rat MEN1

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): MEN1 (NM_130799)
    Sino Biological Human cDNA Clone for MEN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MEN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MEN1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MEN1_HUMAN, O00255: Nucleus. Note=Concentrated in nuclear body-like structures. Relocates to the nuclear matrix
    upon gamma irradiation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    mitochondrion2
    cytoskeleton1
    extracellular1
    golgi apparatus1
    lysosome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin IDA12874027
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    MEN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MEN1 About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Loss of Function of SMAD2/3 in Cancer
    Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer0.72
    Signaling by TGF-beta Receptor Complex0.60
    SMAD2/SMAD3-SMAD4 heterotrimer regulates transcription0.72
    TGFBR1 KD Mutants in Cancer0.60
    Loss of Function of SMAD2/3 in Cancer0.60
    SMAD2/3 MH2 Domain Mutants in Cancer0.60
    Loss of Function of SMAD4 in Cancer0.60
    SMAD2/3 Phosphorylation Motif Mutants in Cancer0.60
    2Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    3Cell cycle
    Cell cycle0.59
    4Signaling by GPCR
    Signal Transduction0.58
    5Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for MEN1
        Chromatin Regulation / Acetylation

    1 BioSystems Pathway for MEN1
        Cell cycle


    3 Reactome Pathways for MEN1
        deactivation of the beta-catenin transactivating complex
    formation of the beta-catenin:TCF transactivating complex
    SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription


    1 Kegg Pathway  (Kegg details for MEN1):
        Transcriptional misregulation in cancer


    MEN1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MEN1: 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Telomeres & Telomerase in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MEN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MEN1 (O002551, 2, 3 ENSP000003370884) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
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    Gene Ontology (GO): Selected biological process terms (see all 45):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA9989505
    GO:0000165MAPK cascade IDA12226747
    GO:0001503ossification ----
    GO:0001776leukocyte homeostasis IEA--
    GO:0001933negative regulation of protein phosphorylation IDA12226747

    MEN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MEN1

    9 Novoseek inferred chemical compound relationships for MEN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rpa 2 50 1 15691381 (1)
    diepoxybutane 37.2 1 10915021 (1)
    estrogen 5.33 5 16651450 (3), 17024155 (1)
    thymidine 0 2 12459032 (1), 12021209 (1)
    calcium 0 4 19421129 (1), 17158076 (1)
    tyrosine 0 1 17373213 (1)
    serine 0 1 17050672 (1)
    vegf 0 2 14690153 (1), 17382271 (1)
    vitamin d 0 2 19729047 (1), 16651450 (1)



    MEN1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MEN1 gene (7 alternative transcripts): 
    NM_000244.3  NM_130799.2  NM_130800.2  NM_130801.2  NM_130802.2  NM_130803.2  NM_130804.2  

    Unigene Cluster for MEN1:

    Multiple endocrine neoplasia I
    Hs.423348  [show with all ESTs]
    Unigene Representative Sequence: NM_130803
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377316 ENST00000377321 ENST00000377326 ENST00000312049(uc001obm.3)
    ENST00000315422(uc001obl.3) ENST00000377313 ENST00000478548 ENST00000487019
    ENST00000440873 ENST00000450708 ENST00000413626 ENST00000429702 ENST00000424912
    ENST00000337652(uc001obr.3) ENST00000394376(uc001obq.3) ENST00000394374(uc001obj.3 uc001obk.3 uc001obo.3)
    ENST00000443283(uc001obn.3)
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate MEN1:
    hsa-miR-3155 hsa-miR-1238 hsa-miR-24 hsa-miR-3155b hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmidMEN1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 7): MEN1 (NM_130799)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MEN1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MEN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MEN1
      QuantiTect SYBR Green Assays in human, mouse, rat MEN1
      QuantiFast Probe-based Assays in human, mouse, rat MEN1

    Additional mRNA sequence: 

    AJ297485.1 AJ297486.1 AJ297487.1 AJ297488.1 AJ297489.1 BC002544.2 BC002664.2 U93236.1 
    Y12338.1 

    14 DOTS entries:

    DT.97763709  DT.317546  DT.100028453  DT.100655505  DT.100028456  DT.100655496  DT.100028454  DT.91760399 
    DT.91760392  DT.97846333  DT.40110073  DT.100712842  DT.91760395  DT.95123923 

    Selected AceView cDNA sequences (see all 277):

    AW008903 BU730594 AA831698 N90077 BX345103 AW157832 AJ297486 BX103683 
    AI310413 CD515360 AI201282 AI275473 BE267140 CR598705 BU608681 CA450369 
    AJ297488 AI208562 AA877856 AI633641 BQ021832 CF130250 AJ297489 BQ066743 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MEN1 (see all 9)    About this scheme

    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:              -     -     -     -     -     -     -     -                                                                                                   


    ECgene alternative splicing isoforms for MEN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MEN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MEN1 Expression
    About this image

    MEN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MEN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.423348

    UniProtKB/Swiss-Prot: MEN1_HUMAN, O00255
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MEN1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MEN1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Men11 , 5 multiple endocrine neoplasia 11, 5 88.96(n)1
    96.72(a)1
      19 (4.45 cM)5
    172831  NM_008583.21  NP_032609.11 
     63349795 
    lizard
    (Anolis carolinensis)
    Reptilia MEN16
    multiple endocrine neoplasia I
    87(a)
    1 ↔ 1
    GL344552.1(266-9560)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU916366.12   -- 72.92(n)    BU916366.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF212919.12   -- 76.27(n)   30130  AF212919.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mnn11 , 3 Menin 11 46(a)3
    57.29(n)1
    51.16(a)1
      27D73
    339911  NM_001042877.21  NP_001036342.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MEN1 (see all 367)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs20713121,2,,4
    C,HFamilial multiple endocrine neoplasia type I (MEN1)4 --64573744(-) GGGAAG/ACCCTG 14 /T /A mis14Minor allele frequency- A:0.00NS EA NA 268
    rs289316121,2,,4
    CFamilial multiple endocrine neoplasia type I (MEN1)4 other164577506(-) CTGCCA/GAGCTG 14 K E mis1 ese30--------
    VAR_0651564
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0651562 W C mis40--------
    VAR_0396394
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0396392 W S mis40--------
    VAR_0395954
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0395952 A T mis40--------
    VAR_0396474
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0396472 S R mis40--------
    VAR_0054464
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0054462 L P mis40--------
    VAR_0396404
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0396402 S R mis40--------
    VAR_0054304
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0054302 E G mis40--------
    VAR_0054254
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0054252 P L mis40--------

    HapMap Linkage Disequilibrium report for MEN1 (64570982 - 64578766 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MEN1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv897702CNV Loss21882294
    dgv72n21CNV Loss19592680
    dgv1172n71CNV Loss21882294
    nsv528506CNV Loss19592680
    nsv897703CNV Loss21882294
    nsv469962CNV Loss18288195
    nsv897694CNV Loss21882294
    nsv832189CNV Loss17160897
    dgv153n27CNV Loss19166990
    dgv1171n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): MEN1
    Locus Specific Mutation Databases (LSDB): MEN1

    Selected Site Specific Mutation Identification with PCR Assays for MEN1 (see all 14):
    Cosmic IdAA Change
    22577p.I85fs*33
    22570p.L89R
    22640p.K119del
    22580p.I125fs*54
    22638p.G42S
    SeqTarget long-range PCR primers for resequencing MEN1
    DNA2.0 Custom Variant and Variant Library Synthesis for MEN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613733   
    OMIM disorders: 131100  
    UniProtKB/Swiss-Prot: MEN1_HUMAN, O00255
  • 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Familial isolated hyperparathyroidism (FIHP) [MIM:145000]: Autosomal dominant disorder characterized by
    hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for MEN1 (see all 95):    
    About MalaCards
    zollinger-ellison syndrome    primary hyperparathyroidism    pediatric ependymoma    angiofibroma, somatic
    adrenal adenoma, somatic    wermer syndrome    parathyroid gland disease    multiple endocrine neoplasia
    carcinoid tumor of lung    parathyroid adenoma, somatic    lipoma, somatic    follicular adenoma
    gastrinoma    familial isolated hyperparathyroidism    chromosome 1p deletion    parathyroid adenoma
    duodenal gastrinoma    parathyroid carcinoma    uremia    hyperparathyroidism

    15 diseases from the University of Copenhagen DISEASES database for MEN1:
    Wermer syndrome     Hyperparathyroidism     Gastrinoma     Adenoma
    Carney complex     Pituitary adenoma     Pancreatic cancer     Parathyroid adenoma
    Acromegaly     Parathyroid carcinoma     VIPoma     Hypercalcemia
    Hemangioma     Hormone producing pituitary cancer     Lipoma

    MEN1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MEN1 gene (see all 78)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    multiple endocrine neoplasia type 1 97.9 190 10664520 (3), 10849016 (3), 10993647 (3), 10709111 (2) (see all 99)
    multiple endocrine neoplasia 90 17 11167122 (1), 11901838 (1), 16449969 (1), 10565680 (1) (see all 17)
    hrpt2 85.4 18 19474519 (4), 17065424 (3), 16430712 (3), 17338170 (2) (see all 9)
    gastrinoma 85.3 11 15944766 (2), 10548885 (2), 12915685 (1), 17961653 (1) (see all 7)
    hyperparathyroidism 84.8 59 15635078 (3), 11966738 (3), 9843042 (2), 14633735 (2) (see all 33)
    hyperparathyroidism primary 84 18 15292357 (2), 10870030 (2), 20058152 (1), 12016470 (1) (see all 15)
    parathyroid adenoma 83.5 28 10963041 (3), 15168774 (2), 8803711 (2), 10548885 (2) (see all 16)
    pituitary tumors 80.2 21 9543172 (2), 20175454 (1), 19564887 (1), 10424779 (1) (see all 17)
    parathyroid hyperplasia 79.1 5 10993646 (1), 9598800 (1), 10915003 (1), 15870131 (1) (see all 5)
    pituitary adenoma 78 29 11836268 (4), 10424779 (3), 15163308 (2), 15704128 (2) (see all 14)

    Genatlas disease: MEN1
    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

    GeneTests: MEN1
    GeneReviews: MEN1
    Genetic Association Database (GAD): MEN1
    Human Genome Epidemiology (HuGE) Navigator: MEN1 (29 documents)

    Export disorders for MEN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MEN1 gene, integrated from 10 sources (see all 506):
    (articles sorted by number of sources associating them with MEN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of MEN1 and HRPT2 somatic mutations in paraffin- embedded (sporadic) parathyroid carcinomas. (PubMed id 17555500)1, 2, 4 Haven C.J.... Morreau H. (Clin. Endocrinol. (Oxf.) 2007)
    2. Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. (PubMed id 11836268)1, 4, 9 VergA"s B....Calender A. (J. Clin. Endocrinol. Metab. 2002)
    3. Somatic mutation of the MEN1 gene in parathyroid tumours. (PubMed id 9241276)1, 2, 9 Heppner C.... Marx S.J. (Nat. Genet. 1997)
    4. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. (PubMed id 9215689)1, 2, 9 Agarwal S.K.... Marx S.J. (Hum. Mol. Genet. 1997)
    5. Menin associates with FANCD2, a protein involved in repair of DNA damage. (PubMed id 12874027)1, 2, 9 Jin S....Hua X. (Cancer Res. 2003)
    6. Functional interaction between tumor suppressor menin and activator of S-phase kinase. (PubMed id 15374998)1, 2, 9 Schnepp R.W....Hua X. (Cancer Res. 2004)
    7. Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling. (PubMed id 11274402)1, 2, 9 Kaji H.... Hendy G.N. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    8. Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age? (PubMed id 20058152)1, 4, 9 Skandarajah A....Henry J.F. (World J Surg 2010)
    9. Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression. (PubMed id 15199122)1, 2, 9 Yokoyama A.... Cleary M.L. (Mol. Cell. Biol. 2004)
    10. The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation. (PubMed id 11526476)1, 2, 9 Heppner C.... Burns A.L. (Oncogene 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4221 HGNC: 7010 AceView: MEN1 Ensembl:ENSG00000133895 euGenes: HUgn4221
    ECgene: MEN1 Kegg: 4221 H-InvDB: MEN1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MEN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MEN1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MEN1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MEN1 gene:
    Search GeneIP for patents involving MEN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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