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MEN1 menin 1 [ Homo sapiens (human) ]

Gene ID: 4221, updated on 4-Jan-2025

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
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Genomic context

See MEN1 in Genome Data Viewer
Location:
11q13.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64803516..64811294, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64796826..64804601, complement)
RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables R-SMAD binding PubMed 
enables Y-form DNA binding  
enables Y-form DNA binding PubMed 
enables chromatin binding  
enables double-stranded DNA binding PubMed 
enables four-way junction DNA binding PubMed 
enables phosphoprotein binding PubMed 
enables protein binding PubMed 
enables protein-macromolecule adaptor activity PubMed 
enables transcription cis-regulatory region binding  
enables transcription cis-regulatory region binding PubMed 
Process Evidence Code Pubs
involved_in DNA damage response PubMed 
involved_in DNA repair PubMed 
involved_in MAPK cascade PubMed 
involved_in T-helper 2 cell differentiation PubMed 
involved_in negative regulation of DNA-binding transcription factor activity PubMed 
involved_in negative regulation of DNA-templated transcription PubMed 
involved_in negative regulation of JNK cascade PubMed 
involved_in negative regulation of cell cycle  
involved_in negative regulation of cell cycle PubMed 
involved_in negative regulation of cell population proliferation  
involved_in negative regulation of cell population proliferation PubMed 
involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity PubMed 
acts_upstream_of_or_within negative regulation of osteoblast differentiation PubMed 
involved_in negative regulation of protein phosphorylation PubMed 
involved_in negative regulation of transcription by RNA polymerase II PubMed 
acts_upstream_of_or_within osteoblast development PubMed 
involved_in positive regulation of transcription by RNA polymerase II PubMed 
involved_in positive regulation of transforming growth factor beta receptor signaling pathway PubMed 
involved_in regulation of transcription by RNA polymerase II  
involved_in response to UV PubMed 
involved_in response to gamma radiation PubMed 
involved_in transcription initiation-coupled chromatin remodeling PubMed 
Component Evidence Code Pubs
part_of MLL1 complex PubMed 
part_of MLL1/2 complex PubMed 
located_in chromatin  
located_in chromatin PubMed 
located_in chromosome, telomeric region  
located_in cleavage furrow PubMed 
located_in cytoplasm PubMed 
located_in cytosol PubMed 
located_in cytosol  
located_in endoplasmic reticulum lumen  
part_of histone methyltransferase complex  
part_of histone methyltransferase complex PubMed 
located_in nuclear matrix PubMed 
located_in nucleoplasm  
located_in nucleoplasm  
located_in nucleus PubMed 
part_of protein-containing complex PubMed 
part_of transcription repressor complex PubMed 

NCBI Reference Sequences (RefSeq)

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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
    UniProtKB/TrEMBL
    A0A8C8KI72
    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, A0A8C8KI72
    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
    UniProtKB/TrEMBL
    A0A8C8KI72
    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
    UniProtKB/TrEMBL
    A0A8C8KI72
    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
    A0A8C8KI72, 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
    A0A8C8KI72, 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, A0A8C8KI72
  9. NM_001407143.1NP_001394072.1  menin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP001462
    Consensus CDS
    CCDS91503.1
    UniProtKB/TrEMBL
    A0A5F9ZHS3, A0A8C8KI72
  10. NM_001407144.1NP_001394073.1  menin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP001462
    UniProtKB/TrEMBL
    A0A5F9ZHS3, A0A8C8KI72
  11. NM_001407145.1NP_001394074.1  menin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AP001462
    UniProtKB/TrEMBL
    A0A8C8KI72
  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
    UniProtKB/TrEMBL
    A0A8C8KI72
    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
    UniProtKB/TrEMBL
    A0A8C8KI72
  14. NM_001407148.1NP_001394077.1  menin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP001462
    UniProtKB/TrEMBL
    A0A8C8KI72, A0AA75I0P0
  15. NM_001407149.1NP_001394078.1  menin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP001462
    UniProtKB/TrEMBL
    A0A8C8KI72, 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
    UniProtKB/TrEMBL
    A0A8C8KI72
  17. NM_001407151.1NP_001394080.1  menin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AP001462
    UniProtKB/TrEMBL
    A0A8C8KI72
  18. NM_001407152.1NP_001394081.1  menin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AP001462
    UniProtKB/TrEMBL
    A0A8C8KI72, 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
    UniProtKB/TrEMBL
    A0A8C8KI72
    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
    UniProtKB/TrEMBL
    A0A8C8KI72
  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
    UniProtKB/TrEMBL
    A0A8C8KI72
  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
    UniProtKB/TrEMBL
    A0A8C8KI72
    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
    UniProtKB/TrEMBL
    A0A8C8KI72
  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
    UniProtKB/TrEMBL
    A0A8C8KI72

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_2024_08

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

    UniProtKB/TrEMBL
    A0A8C8KI72
  2. XM_054368827.1XP_054224802.1  menin isoform X1

    UniProtKB/TrEMBL
    A0A8C8KI72
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