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    MEN1 menin 1 [ Homo sapiens (human) ]

    Gene ID: 4221, updated on 7-Apr-2024

    Summary

    Official Symbol
    MEN1provided by HGNC
    Official Full Name
    menin 1provided by HGNC
    Primary source
    HGNC:HGNC:7010
    See related
    Ensembl:ENSG00000133895 MIM:613733; AllianceGenome:HGNC:7010
    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 tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019]
    Expression
    Ubiquitous expression in spleen (RPKM 7.6), lymph node (RPKM 7.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MEN1 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64803516..64811294, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64796826..64804601, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64570988..64578766, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64532334-64533208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64533209-64534081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64534082-64534955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64545791-64546392 Neighboring gene splicing factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64557481-64557982 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 2 Neighboring gene Sharpr-MPRA regulatory region 11124 Neighboring gene MPRA-validated peak1298 silencer Neighboring gene Sharpr-MPRA regulatory region 2965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4917 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64594480-64594980 Neighboring gene CDC42 binding protein kinase gamma Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64609163-64609975 Neighboring gene Sharpr-MPRA regulatory region 8286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64610788-64611600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4921 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64620804-64621802 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64622049-64623248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4925 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64630869-64631680 Neighboring gene EH domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4928 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64641208-64641398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64644230-64645006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3499 Neighboring gene microRNA 10392

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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 2022-01-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-01-12)

    ClinGen Genome Curation PagePubMed

    EBI 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.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables R-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables Y-form DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables Y-form DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables four-way junction DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA repair NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in T-helper 2 cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of osteoblast differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of telomerase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within osteoblast development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transcription initiation-coupled chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MLL1 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of MLL1/2 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cleavage furrow IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    part_of histone methyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of histone methyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription repressor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000244.4NP_000235.3  menin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the first transcript identified for this gene and has a unique 5' UTR. Variants 1, e1B, e1C, e1D, e1E, e1F, and 12 all encode the same isoform (1).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS8083.1
      Related
      ENSP00000518530.1, ENST00000710881.1
    2. NM_001370251.2NP_001357180.2  menin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 9, 10, and 11, encodes isoform 3.
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS91503.1
      UniProtKB/TrEMBL
      A0A5F9ZHS3
      Related
      ENSP00000500585.1, ENST00000672304.1
    3. NM_001370259.2NP_001357188.2  menin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 2, 5, 6, 13, and 14, encodes isoform 2.
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS31600.1
      UniProtKB/Swiss-Prot
      A5HBC6, A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00255, O00632, Q9BUF0, Q9BUK2
      UniProtKB/TrEMBL
      A0A8C8KI72
      Related
      ENSP00000394933.3, ENST00000450708.7
      Conserved Domains (1) summary
      pfam05053
      Location:2608
      Menin
    4. NM_001370260.2NP_001357189.2  menin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 2, 4, 6, 13, and 14, all encode isoform 2.
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS31600.1
      UniProtKB/Swiss-Prot
      A5HBC6, A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00255, O00632, Q9BUF0, Q9BUK2
      Related
      ENSP00000413944.2, ENST00000440873.6
    5. NM_001370261.2NP_001357190.2  menin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 2, 4, 5, 13, and 14, all encode isoform 2.
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS31600.1
      UniProtKB/Swiss-Prot
      A5HBC6, A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00255, O00632, Q9BUF0, Q9BUK2
      Related
      ENSP00000323747.4, ENST00000315422.9
    6. NM_001370262.2NP_001357191.2  menin isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 8, 15, and 16, encodes isoform 4.
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS91504.1
      UniProtKB/TrEMBL
      A0AA75I0P0
    7. NM_001370263.2NP_001357192.2  menin isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 7, 15, and 16, encodes isoform 4.
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS91504.1
      UniProtKB/TrEMBL
      A0AA75I0P0
      Related
      ENSP00000366538.1, ENST00000377321.5
    8. NM_001407142.1NP_001394071.1  menin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS91503.1
      UniProtKB/TrEMBL
      A0A5F9ZHS3
    9. NM_001407143.1NP_001394072.1  menin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS91503.1
      UniProtKB/TrEMBL
      A0A5F9ZHS3
    10. NM_001407144.1NP_001394073.1  menin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/TrEMBL
      A0A5F9ZHS3
    11. NM_001407145.1NP_001394074.1  menin isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP001462
    12. NM_001407146.1NP_001394075.1  menin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/Swiss-Prot
      A5HBC6, A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00255, O00632, Q9BUF0, Q9BUK2
      Related
      ENSP00000411218.2, ENST00000413626.2
    13. NM_001407147.1NP_001394076.1  menin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/Swiss-Prot
      A5HBC6, A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00255, O00632, Q9BUF0, Q9BUK2
    14. NM_001407148.1NP_001394077.1  menin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/TrEMBL
      A0AA75I0P0
    15. NM_001407149.1NP_001394078.1  menin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/TrEMBL
      A0AA75I0P0
    16. NM_001407150.1NP_001394079.1  menin isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17) encodes the longest isoform (5).
      Source sequence(s)
      AP001462
    17. NM_001407151.1NP_001394080.1  menin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP001462
    18. NM_001407152.1NP_001394081.1  menin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP001462
      UniProtKB/TrEMBL
      E7EN32
      Related
      ENSP00000366533.1, ENST00000377316.6
    19. NM_130799.3NP_570711.2  menin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs from variant 1 by using an alternative splice site in the 5' CDS. It encodes isoform 2, which is missing an internal 5 aa compared to isoform 1. Variants 2, 4, 5, 6, 13, and 14 all encode the same isoform (2).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS31600.1
      UniProtKB/Swiss-Prot
      A5HBC6, A5HBC7, A5HBC8, A5HBC9, A5HBD0, A5HBD1, A5HBD2, O00255, O00632, Q9BUF0, Q9BUK2
      Related
      ENSP00000308975.6, ENST00000312049.11
    20. NM_130800.3NP_570712.2  menin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1B) differs in the 5' UTR compared to variant 1. Variants 1, e1B, e1C, e1D, e1E, e1F, and 12 all encode the same isoform (1).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS8083.1
    21. NM_130801.3NP_570713.2  menin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1C) differs in the 5' UTR from variant 1. Variants 1, e1B, e1C, e1D, e1E, e1F, and 12 all encode the same isoform (1).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS8083.1
    22. NM_130802.3NP_570714.2  menin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1D) differs in the 5' UTR compared to variant 1. Variants 1, e1B, e1C, e1D, e1E, e1F, and 12 all encode the same isoform (1).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS8083.1
      Related
      ENSP00000366530.1, ENST00000377313.7
    23. NM_130803.3NP_570715.2  menin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1E) differs in the 5' UTR compared to variant 1. Variants 1, e1B, e1C, e1D, e1E, e1F, and 12 all encode the same isoform (1).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS8083.1
    24. NM_130804.3NP_570716.2  menin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e1F) differs in the 5' UTR compared to variant 1. Variants 1, e1B, e1C, e1D, e1E, e1F, and 12 all encode the same isoform (1).
      Source sequence(s)
      AP001462
      Consensus CDS
      CCDS8083.1

    RNA

    1. NR_176284.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001462
    2. NR_176285.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001462
      Related
      ENST00000394374.8
    3. NR_176286.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001462
    4. NR_176287.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001462
      Related
      ENST00000672079.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      64803516..64811294 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017768.2XP_016873257.1  menin isoform X1

      UniProtKB/TrEMBL
      A0A8C8KI72
    2. XM_017017767.3XP_016873256.1  menin isoform X1

      UniProtKB/TrEMBL
      A0A8C8KI72
    3. XM_017017766.2XP_016873255.1  menin isoform X1

      UniProtKB/TrEMBL
      A0A8C8KI72

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64796826..64804601 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368826.1XP_054224801.1  menin isoform X1

    2. XM_054368827.1XP_054224802.1  menin isoform X1