MEN1 Gene (Protein Coding)

Menin 1

GC11M064803
GIFtS:
47
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] See more...

Aliases for MEN1 Gene

Aliases for MEN1 Gene

  • Menin 1 2 3 5
  • Menin 2 3 4
  • SCG2 3 4
  • Multiple Endocrine Neoplasia I 2
  • MEAI 3
  • MEN1 5

External Ids for MEN1 Gene

Previous GeneCards Identifiers for MEN1 Gene

  • GC11P067708
  • GC11M066252
  • GC11M064821
  • GC11M064346
  • GC11M064327
  • GC11M064570
  • GC11M060898

Summaries for MEN1 Gene

Entrez Gene Summary for MEN1 Gene

  • 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]

CIViC Summary for MEN1 Gene

GeneCards Summary for MEN1 Gene

MEN1 (Menin 1) is a Protein Coding gene. Diseases associated with MEN1 include Multiple Endocrine Neoplasia, Type I and Pituitary Adenoma 1, Multiple Types. Among its related pathways are Signaling by GPCR and RHO GTPases activate IQGAPs. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and transcription regulatory region DNA binding.

UniProtKB/Swiss-Prot Summary for MEN1 Gene

  • 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

Additional gene information for MEN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MEN1 Gene

Genomics for MEN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MEN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MEN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MEN1

Top Transcription factor binding sites by QIAGEN in the MEN1 gene promoter:
  • PPAR-gamma1

Genomic Locations for MEN1 Gene

Latest Assembly
chr11:64,803,510-64,811,294
(GRCh38/hg38)
Size:
7,785 bases
Orientation:
Minus strand

Previous Assembly
chr11:64,570,986-64,578,766
(GRCh37/hg19 by Entrez Gene)
Size:
7,781 bases
Orientation:
Minus strand

chr11:64,570,982-64,578,766
(GRCh37/hg19 by Ensembl)
Size:
7,785 bases
Orientation:
Minus strand

Genomic View for MEN1 Gene

Genes around MEN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEN1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MEN1 Gene

Proteins for MEN1 Gene

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  • Protein details for MEN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00255-MEN1_HUMAN
    Recommended name:
    Menin
    Protein Accession:
    O00255
    Secondary Accessions:
    • A5HBC6
    • A5HBC7
    • A5HBC8
    • A5HBC9
    • A5HBD0
    • A5HBD1
    • A5HBD2
    • O00632
    • Q9BUF0
    • Q9BUK2

    Protein attributes for MEN1 Gene

    Size:
    615 amino acids
    Molecular mass:
    68023 Da
    Quaternary structure:
    • 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 (via MBM motif); inhibits the interaction of JUND with MAPK10 and the phosphorylation of JUND by MAP kinases MAPK8 and MAPK10 (PubMed:9989505, PubMed:22327296). Interacts with SMAD3, but not with SMAD2, nor SMAD4. Directly interacts with NFKB1, NFKB2 and RELA. Interacts with KMT2A (via MBM motif) (PubMed:25305204, PubMed:22936661, PubMed:22327296). The KMT2A-MEN1 complex interacts with PSIP1 with a greater affinity as MEN1 enhances interaction of KMT2A with PSIP1 (PubMed:25305204, PubMed:22327296). Interacts with the fusion protein KMT2A-MLLT3 (PubMed:25305204, PubMed:22936661).
    SequenceCaution:
    • Sequence=ABQ12624.1; Type=Frameshift; Note=The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred.; Evidence={ECO:0000305}; Sequence=ABQ12627.1; Type=Frameshift; Note=The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MEN1 Gene

    Alternative splice isoforms for MEN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MEN1 Gene

Protein Expression for MEN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MEN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MEN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MEN1 Gene

Domains & Families for MEN1 Gene

Gene Families for MEN1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MEN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MEN1 Gene

GenScript: Design optimal peptide antigens:
  • Menin variant (C9DZM4_HUMAN)
  • Menin (MEN1_HUMAN)
  • Menin (Q7Z5Y5_HUMAN)
  • Truncated menin (Q7Z6F9_HUMAN)
genes like me logo Genes that share domains with MEN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MEN1 Gene

Function for MEN1 Gene

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  3. miRNA products for research
  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for MEN1 Gene

UniProtKB/Swiss-Prot 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:
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

Phenotypes From GWAS Catalog for MEN1 Gene

Gene Ontology (GO) - Molecular Function for MEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000400 four-way junction DNA binding IDA 15331604
GO:0000403 Y-form DNA binding IBA,IDA 15331604
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 20484083
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA 21873635
genes like me logo Genes that share ontologies with MEN1: view
genes like me logo Genes that share phenotypes with MEN1: view

Human Phenotype Ontology for MEN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MEN1 Gene

MGI Knock Outs for MEN1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MEN1

Clone products for research

  • Addgene plasmids for MEN1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MEN1 Gene

Localization for MEN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEN1 Gene

Nucleus. Note=Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MEN1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
endoplasmic reticulum 4
extracellular 2
cytoskeleton 2
mitochondrion 2
golgi apparatus 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region ISS --
GO:0000785 chromatin IDA 12837246
GO:0005634 nucleus IEA,IDA 9465067
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 11500056
genes like me logo Genes that share ontologies with MEN1: view

Pathways & Interactions for MEN1 Gene

genes like me logo Genes that share pathways with MEN1: view

Pathways by source for MEN1 Gene

1 BioSystems pathway for MEN1 Gene
1 Cell Signaling Technology pathway for MEN1 Gene

SIGNOR curated interactions for MEN1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for MEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 9989505
GO:0000165 MAPK cascade IDA 12226747
GO:0000278 mitotic cell cycle IEA --
GO:0001933 negative regulation of protein phosphorylation IDA 12226747
GO:0002076 osteoblast development IGI 15563473
genes like me logo Genes that share ontologies with MEN1: view

Drugs & Compounds for MEN1 Gene

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  1. Drug products for research

(22) Drugs for MEN1 Gene - From: ClinicalTrials, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cinacalcet Approved Pharma 79
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1046
Pancrelipase Approved, Investigational Pharma 1275
Parathyroid hormone Approved, Investigational Pharma 372
Somatostatin Approved, Investigational Pharma Influences growth hormone release 263

(3) Additional Compounds for MEN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for MEN1 Gene

Compound Action Cas Number
MI-2 Menin-MLL Inhibitor 1271738-62-5
MI-3 Menin-MLL Inhibitor 1271738-59-0
genes like me logo Genes that share compounds with MEN1: view

Drug products for research

Transcripts for MEN1 Gene

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mRNA/cDNA for MEN1 Gene

13 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MEN1

Clone products for research