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    MEN1 menin 1 [ Homo sapiens (human) ]

    Gene ID: 4221, updated on 25-Aug-2016
    Official Symbol
    MEN1provided by HGNC
    Official Full Name
    menin 1provided by HGNC
    Primary source
    HGNC:HGNC:7010
    See related
    Ensembl:ENSG00000133895 HPRD:00564; MIM:613733; Vega:OTTHUMG00000045366
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MEAI; SCG2
    Summary
    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]
    Orthologs
    Location:
    11q13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (64803514..64811294, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64570986..64578766, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene splicing factor 1 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 2 Neighboring gene CDC42 binding protein kinase gamma Neighboring gene EH domain containing 1

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MEN1 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Multiple endocrine neoplasia, type 1 Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2015-11-16)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2015-11-16)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat SKIP and c-Myc interact with menin and the MLL1 complex. HIV-1 Tat transactivation requires menin, but not MLL1 or Ash2L PubMed

    Go to the HIV-1, Human Interaction Database

    • Cell cycle, organism-specific biosystem (from WikiPathways)
      Cell cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
    • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
      Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
    • Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystem (from REACTOME)
      Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystemOnce in the nucleus, beta-catenin is recruited to WNT target genes through interaction with TCF/LEF transcription factors. This family, which consists of TCF7 (also known as TCF1), TCF7L1 (also known...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases activate IQGAPs, organism-specific biosystem (from REACTOME)
      RHO GTPases activate IQGAPs, organism-specific biosystemIQGAPs constitute a family of scaffolding proteins characterized by a calponin homology (CH) domain, a polyproline binding region (WW domain), a tandem of four IQ (isoleucine and glutamine-rich) repe...
    • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystem (from REACTOME)
      SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription, organism-specific biosystemAfter phosphorylated SMAD2 and/or SMAD3 form a heterotrimer with SMAD4, SMAD2/3:SMAD4 complex translocates to the nucleus (Xu et al. 2000, Kurisaki et al. 2001, Xiao et al. 2003). In the nucleus, lin...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
      Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
      TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
    • Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystem (from REACTOME)
      Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer, organism-specific biosystemIn the nucleus, SMAD2/3:SMAD4 heterotrimer complex acts as a transcriptional regulator. The activity of SMAD2/3 complex is regulated both positively and negatively by association with other transcrip...
    • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
      Transcriptional misregulation in cancer, organism-specific biosystem
      Transcriptional misregulation in cancer
    • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
      Transcriptional misregulation in cancer, conserved biosystem
      Transcriptional misregulation in cancer
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    R-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Y-form DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    four-way junction DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to histone-lysine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding, bridging IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-catenin-TCF complex assembly TAS
    Traceable Author Statement
    more info
     
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to peptide hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    decidualization IEA
    Inferred from Electronic Annotation
    more info
     
    histone lysine methylation IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell cycle G1/S phase transition IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cyclin-dependent protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of osteoblast differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of telomerase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    osteoblast development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    positive regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of type B pancreatic cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to transforming growth factor beta IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    type B pancreatic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cleavage furrow IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    histone methyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone methyltransferase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome, telomeric region ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    menin
    Names
    multiple endocrine neoplasia I

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008929.1 RefSeqGene

      Range
      5001..12781
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_509

    mRNA and Protein(s)

    1. NM_000244.3NP_000235.2  menin isoform 1

      See identical proteins and their annotated locations for NP_000235.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), representing the first transcript identified for this gene, has a unique 5' UTR and encodes the longer isoform (1).
      Source sequence(s)
      AA877856, AP001462, BC002664, BE267140, U93236
      Consensus CDS
      CCDS8083.1
      UniProtKB/Swiss-Prot
      O00255
      UniProtKB/TrEMBL
      A0A024R5D2
      Conserved Domains (2) summary
      cd14456
      Location:3463
      Menin; Scaffolding protein menin encoded by the MEN1 gene
      pfam05053
      Location:2613
      Menin; Menin
    2. NM_130799.2NP_570711.1  menin isoform 2

      See identical proteins and their annotated locations for NP_570711.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs from variant 1 by using an alternative splice site in exon 2. Use of this splice site results in the loss of 15 nt at the end of exon 2. Isoform 2 is missing an internal 5 aa as compared to isoform 1.
      Source sequence(s)
      AA877856, AP001462, BC002664, U93236
      Consensus CDS
      CCDS31600.1
      UniProtKB/Swiss-Prot
      O00255
      UniProtKB/TrEMBL
      A0A024R5E3
      Related
      ENSP00000308975, OTTHUMP00000042868, ENST00000312049, OTTHUMT00000105354
      Conserved Domains (2) summary
      pfam05053
      Location:2610
      Menin; Menin
      cd14456
      Location:3458
      Menin; Scaffolding protein menin encoded by the MEN1 gene
    3. NM_130800.2NP_570712.1  menin isoform 1

      See identical proteins and their annotated locations for NP_570712.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1B) encodes the same isoform as variant 1. This variant has a distinct 5' UTR from variant 1, but shares some 5' UTR sequence with variant e1C.
      Source sequence(s)
      AA877856, AJ297485, BC002664, BE267140, U93236
      Consensus CDS
      CCDS8083.1
      UniProtKB/Swiss-Prot
      O00255
      UniProtKB/TrEMBL
      A0A024R5D2, Q9GZQ5
      Conserved Domains (2) summary
      cd14456
      Location:3463
      Menin; Scaffolding protein menin encoded by the MEN1 gene
      pfam05053
      Location:2613
      Menin; Menin
    4. NM_130801.2NP_570713.1  menin isoform 1

      See identical proteins and their annotated locations for NP_570713.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1C) encodes the same isoform as variant 1. This variant has a distinct 5' UTR from variant 1, but shares some 5' UTR sequence with variant e1B.
      Source sequence(s)
      AA877856, AJ297486, BC002664, BE267140, U93236
      Consensus CDS
      CCDS8083.1
      UniProtKB/Swiss-Prot
      O00255
      UniProtKB/TrEMBL
      A0A024R5D2, Q9GZQ5
      Related
      ENSP00000366530, OTTHUMP00000070184, ENST00000377313, OTTHUMT00000143889
      Conserved Domains (2) summary
      cd14456
      Location:3463
      Menin; Scaffolding protein menin encoded by the MEN1 gene
      pfam05053
      Location:2613
      Menin; Menin
    5. NM_130802.2NP_570714.1  menin isoform 1

      See identical proteins and their annotated locations for NP_570714.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1D) encodes the same isoform as variant 1. This variant has a unique 5' UTR different from that of variant 1.
      Source sequence(s)
      AA877856, AJ297487, AP001462, BC002664, BE267140, U93236
      Consensus CDS
      CCDS8083.1
      UniProtKB/Swiss-Prot
      O00255
      UniProtKB/TrEMBL
      A0A024R5D2, Q9GZQ5
      Related
      ENSP00000377899, ENST00000394374
      Conserved Domains (2) summary
      cd14456
      Location:3463
      Menin; Scaffolding protein menin encoded by the MEN1 gene
      pfam05053
      Location:2613
      Menin; Menin
    6. NM_130803.2NP_570715.1  menin isoform 1

      See identical proteins and their annotated locations for NP_570715.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1E) encodes the same isoform as variant 1. This variant has a distinct 5' UTR from variant 1, but shares some 5' UTR sequence with variant e1F1.
      Source sequence(s)
      AA877856, AJ297488, BC002664, BE267140, U93236
      Consensus CDS
      CCDS8083.1
      UniProtKB/Swiss-Prot
      O00255
      UniProtKB/TrEMBL
      A0A024R5D2, Q9GZQ5
      Related
      ENSP00000337088, ENST00000337652
      Conserved Domains (2) summary
      cd14456
      Location:3463
      Menin; Scaffolding protein menin encoded by the MEN1 gene
      pfam05053
      Location:2613
      Menin; Menin
    7. NM_130804.2NP_570716.1  menin isoform 1

      See identical proteins and their annotated locations for NP_570716.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1F1) encodes the same isoform as variant 1. This variant has a distinct 5' UTR from variant 1, but shares some 5' UTR sequence with variant e1E.
      Source sequence(s)
      AA877856, AJ297489, BC002664, BE267140, U93236
      Consensus CDS
      CCDS8083.1
      UniProtKB/Swiss-Prot
      O00255
      UniProtKB/TrEMBL
      A0A024R5D2, Q9GZQ5
      Related
      ENSP00000377901, ENST00000394376
      Conserved Domains (2) summary
      cd14456
      Location:3463
      Menin; Scaffolding protein menin encoded by the MEN1 gene
      pfam05053
      Location:2613
      Menin; Menin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      64803514..64811294 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274001.4XP_005274058.1  

      UniProtKB/Swiss-Prot
      O00255
      Related
      ENSP00000323747, OTTHUMP00000070176, ENST00000315422, OTTHUMT00000143881
      Conserved Domains (2) summary
      pfam05053
      Location:2610
      Menin; Menin
      cd14456
      Location:3458
      Menin; Scaffolding protein menin encoded by the MEN1 gene
    2. XM_011545040.1XP_011543342.1  

      See identical proteins and their annotated locations for XP_011543342.1

      Conserved Domains (2) summary
      pfam05053
      Location:2652
      Menin; Menin
      cd14456
      Location:3500
      Menin; Scaffolding protein menin encoded by the MEN1 gene
    3. XM_017017765.1XP_016873254.1  

    4. XM_017017768.1XP_016873257.1  

    5. XM_017017769.1XP_016873258.1  

      Related
      ENSP00000366538, OTTHUMP00000070175, ENST00000377321, OTTHUMT00000143880
    6. XM_011545041.2XP_011543343.1  

      See identical proteins and their annotated locations for XP_011543343.1

      Conserved Domains (2) summary
      pfam05053
      Location:2652
      Menin; Menin
      cd14456
      Location:3500
      Menin; Scaffolding protein menin encoded by the MEN1 gene
    7. XM_017017766.1XP_016873255.1  

    8. XM_017017767.1XP_016873256.1  

    9. XM_011545042.2XP_011543344.1  

      See identical proteins and their annotated locations for XP_011543344.1

      Conserved Domains (2) summary
      pfam05053
      Location:2652
      Menin; Menin
      cd14456
      Location:3500
      Menin; Scaffolding protein menin encoded by the MEN1 gene
    10. XM_017017770.1XP_016873259.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      64454762..64462538 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)