Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MEN1 Gene

Aliases for MEN1 Gene

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

External Ids for MEN1 Gene

Previous GeneCards Identifiers for MEN1 Gene

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

Summaries for MEN1 Gene

Entrez Gene Summary for MEN1 Gene

  • 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]

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 1 and Hyperparathyroidism 3. Among its related pathways are RHO GTPases activate IQGAPs and Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer. GO annotations related to this gene include sequence-specific DNA binding and transcription regulatory region DNA binding.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for MEN1 Gene

Genomics for MEN1 Gene

Regulatory Elements for MEN1 Gene

Enhancers for MEN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H065470 2.7 VISTA FANTOM5 Ensembl ENCODE dbSUPER 38.1 -678.8 -678790 39 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 MCM3 SF1 ZFPL1 POLA2 LOC105369352 SART1 PCNX3 EIF1AD KAT5 SF3B2 MUS81
GH11H065414 2.2 FANTOM5 Ensembl ENCODE dbSUPER 20.8 -612.9 -612888 18 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 MEF2D SF1 LOC105369352 ZFPL1 KAT5 SART1 MUS81 EIF1AD PCNX3 POLA2 SF3B2
GH11H064846 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -45.8 -45760 20 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B ZNF207 EHD1 EHBP1L1 MAP4K2 MIR192 MEN1 MAJIN GPHA2 MAP3K11 CDC42EP2 CDC42BPG
GH11H064758 1.5 Ensembl ENCODE dbSUPER 16.2 +49.0 49015 6 PKNOX1 ARID4B FEZF1 ZNF2 GLIS2 ZNF143 RUNX3 DEK PAF1 ZNF202 MEN1 SF1 POLA2 ZFPL1 PCNX3 VPS51 ENSG00000257086 SYVN1 SSSCA1 KAT5
GH11H065774 1.6 Ensembl ENCODE dbSUPER 13.3 -967.1 -967114 8 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 CBX5 ZNF207 ZNF143 FOS RBM14 ENSG00000258297 LOC105369352 RBM4 SF1 SF3B2 ENSG00000254461 PCNX3 ZFPL1 RNASEH2C
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MEN1 on UCSC Golden Path with GeneCards custom track

Promoters for MEN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040732 794 1401 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YY1 ZNF766 ZNF207 ZNF143

Genomic Location for MEN1 Gene

Chromosome:
11
Start:
64,803,510 bp from pter
End:
64,811,294 bp from pter
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 StructureGene Density

RefSeq DNA sequence for MEN1 Gene

Proteins for MEN1 Gene

  • 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. Interacts with SMAD3, but not with SMAD2, nor SMAD4. Directly interacts with NFKB1, NFKB2 and RELA.
    SequenceCaution:
    • Sequence=ABQ12624.1; Type=Frameshift; Positions=383; 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; Positions=97; 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

Post-translational modifications for MEN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MEN1 Gene

Function for MEN1 Gene

Molecular function for MEN1 Gene

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
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.

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 IDA 15331604
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA,IEA --
GO:0003690 double-stranded DNA binding IDA 15331604
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 Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MEN1
  • Applied Biological Materials Clones for MEN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
nucleus 5
cytosol 5
endoplasmic reticulum 4
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region ISS --
GO:0000785 chromatin IDA 12874027
GO:0000790 nuclear chromatin IDA 12837246
GO:0005634 nucleus IDA 9465067
GO:0005654 nucleoplasm TAS --
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

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 from RNA polymerase II promoter 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1977
Miconazole Approved, Investigational, Vet_approved Pharma Antagonist, Pore Blocker 3778
Pancrelipase Approved Pharma 996
Sirolimus Approved, Investigational Pharma Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1977
Somatostatin Approved Pharma Influences growth hormone release 244

(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

Transcripts for MEN1 Gene

Unigene Clusters for MEN1 Gene

Multiple endocrine neoplasia I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MEN1
  • Applied Biological Materials Clones for MEN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MEN1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b
SP1: - - - - - - - -
SP2: - - - - - - -
SP3:
SP4: - - -
SP5: - - - - - - - -
SP6: - - - -
SP7: - -
SP8:
SP9:

Relevant External Links for MEN1 Gene

GeneLoc Exon Structure for
MEN1
ECgene alternative splicing isoforms for
MEN1

Expression for MEN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MEN1 Gene

Protein differential expression in normal tissues from HIPED for MEN1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.1), Lymph node (13.3), and CD8 Tcells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MEN1 Gene



Protein tissue co-expression partners for MEN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MEN1 Gene:

MEN1

SOURCE GeneReport for Unigene cluster for MEN1 Gene:

Hs.423348

mRNA Expression by UniProt/SwissProt for MEN1 Gene:

O00255-MEN1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MEN1 Gene

  • Liver(4.5)
  • Blood(4.4)
  • Nervous system(3.8)
  • Thyroid gland(3.6)
  • Pancreas(3.2)
  • Adrenal gland(2.7)
  • Intestine(2.6)
  • Stomach(2.4)
  • Lymph node(2.3)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MEN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MEN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MEN1 Gene

Orthologs for MEN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MEN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MEN1 33 34
  • 99.57 (n)
cow
(Bos Taurus)
Mammalia MEN1 33 34
  • 90.93 (n)
dog
(Canis familiaris)
Mammalia MEN1 33 34
  • 90.73 (n)
mouse
(Mus musculus)
Mammalia Men1 33 16 34
  • 88.96 (n)
rat
(Rattus norvegicus)
Mammalia Men1 33
  • 88.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MEN1 34
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MEN1 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia men1 33
  • 66.6 (n)
zebrafish
(Danio rerio)
Actinopterygii men1 33 34 34
  • 67.69 (n)
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008130 33
  • 60.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mnn1 35 33 34
  • 57.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToOne
Species where no ortholog for MEN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MEN1 Gene

ENSEMBL:
Gene Tree for MEN1 (if available)
TreeFam:
Gene Tree for MEN1 (if available)

Paralogs for MEN1 Gene

No data available for Paralogs for MEN1 Gene

Variants for MEN1 Gene

Sequence variations from dbSNP and Humsavar for MEN1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs104894256 Pathogenic, Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] 64,810,045(-) GCGCC(G/T)GTTTG reference, missense
rs104894259 Pathogenic, Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] 64,805,078(-) TGGGC(A/C/T)GGGCC upstream-variant-2KB, reference, missense
rs104894263 Pathogenic, Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] 64,809,695(-) GGGCC(C/G)ACATC reference, missense
rs104894264 Pathogenic, Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100], Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] 64,805,132(-) TCTAC(A/C/G)ACGGC upstream-variant-2KB, reference, missense
rs2071312 Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] 64,806,272(-) GGGAA(A/G)CCCTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MEN1 Gene

Variant ID Type Subtype PubMed ID
dgv153n27 CNV loss 19166990
dgv1965n54 CNV loss 21841781
dgv1967n54 CNV loss 21841781
dgv1968n54 CNV loss 21841781
dgv72n21 CNV loss 19592680
nsv469962 CNV loss 18288195
nsv528506 CNV loss 19592680
nsv825949 CNV gain 20364138
nsv832189 CNV loss 17160897
nsv951013 CNV deletion 24416366

Variation tolerance for MEN1 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.43; 28.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MEN1 Gene

Human Gene Mutation Database (HGMD)
MEN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEN1 Gene

Disorders for MEN1 Gene