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MEN1 menin 1 [ Homo sapiens (human) ]

Gene ID: 4221, updated on 5-May-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
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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