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Aliases for MEN1 Gene

Aliases for MEN1 Gene

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

External Ids for MEN1 Gene

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]

GeneCards Summary for MEN1 Gene

MEN1 (Multiple Endocrine Neoplasia I) is a Protein Coding gene. Diseases associated with MEN1 include multiple endocrine neoplasia and multiple endocrine neoplasia 1. Among its related pathways are Signaling by GPCR and Disease. 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MEN1 Gene

Genomics for MEN1 Gene

Genomic Location for MEN1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MEN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEN1 Gene

Regulatory Elements 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

Proteomics data for MEN1 Gene at MOPED

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 for MEN1 Gene

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 Gene Families and 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.

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 --
GO:0003682 chromatin binding IBA --
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

Animal Models for MEN1 Gene

MGI Knock Outs for MEN1:

miRNA for MEN1 Gene

miRTarBase miRNAs that target MEN1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for MEN1 Gene COMPARTMENTS Subcellular localization image for MEN1 gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 2
cytoskeleton 1
extracellular 1
golgi apparatus 1
lysosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MEN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 12874027
GO:0005634 nucleus IDA 14508515
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MEN1: view

Pathways for MEN1 Gene

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

Pathways by source for MEN1 Gene

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

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:0001503 ossification --
GO:0001776 leukocyte homeostasis IEA --
GO:0001933 negative regulation of protein phosphorylation IDA 12226747
genes like me logo Genes that share ontologies with MEN1: view

Compounds for MEN1 Gene

(9) Novoseek inferred chemical compound relationships for MEN1 Gene

Compound -log(P) Hits PubMed IDs
rpa 2 50 1
diepoxybutane 37.2 1
estrogen 5.33 4
thymidine 0 2
calcium 0 2
genes like me logo Genes that share compounds with MEN1: view

Transcripts for MEN1 Gene

Unigene Clusters for MEN1 Gene

Multiple endocrine neoplasia I:
Representative Sequences:

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 for MEN1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MEN1 Gene

SOURCE GeneReport for Unigene cluster for MEN1 Gene Hs.423348

mRNA Expression by UniProt/SwissProt for MEN1 Gene

O00255-MEN1_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with MEN1: view

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 35
  • 99.57 (n)
  • 99.67 (a)
MEN1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MEN1 35
  • 90.93 (n)
  • 98.69 (a)
MEN1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MEN1 35
  • 90.73 (n)
  • 98.37 (a)
MEN1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Men1 35
  • 88.96 (n)
  • 96.72 (a)
Men1 16
Men1 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MEN1 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Men1 35
  • 88.47 (n)
  • 97.05 (a)
lizard
(Anolis carolinensis)
Reptilia MEN1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia men1 35
  • 66.6 (n)
  • 73.94 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
men1 35
  • 67.69 (n)
  • 72.65 (a)
men1 36
  • 66 (a)
OneToMany
men1 36
  • 67 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008130 35
  • 60.14 (n)
  • 53.68 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mnn1 35
  • 57.29 (n)
  • 51.16 (a)
Mnn1 36
  • 35 (a)
OneToOne
Mnn1 37
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for MEN1:
  • 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 MAF
rs504195 -- 64,806,728(+) CTCCT(A/G)CCACA intron-variant
rs509606 -- 64,810,148(+) AGCCG(C/G)GGGAG intron-variant
rs607969 Benign, - 64,808,033(+) CATCC(C/T)GGAGA missense, reference
rs622720 -- 64,808,970(+) aaaaa(A/T)TTTCA intron-variant
rs624975 -- 64,809,482(+) CCCTG(C/T)CATGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv897694 CNV Loss 21882294
nsv528506 CNV Loss 19592680
dgv1171n71 CNV Loss 21882294
dgv1172n71 CNV Loss 21882294
dgv153n27 CNV Loss 19166990
nsv832189 CNV Loss 17160897
nsv469962 CNV Loss 18288195
nsv897702 CNV Loss 21882294
nsv897703 CNV Loss 21882294
dgv72n21 CNV Loss 19592680
nsv825949 CNV Gain 20364138

Relevant External Links for MEN1 Gene

HapMap Linkage Disequilibrium report
MEN1
Human Gene Mutation Database (HGMD)
MEN1
Locus Specific Mutation Databases (LSDB)
MEN1

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

Disorders for MEN1 Gene

(1) OMIM Diseases for MEN1 Gene (613733)

UniProtKB/Swiss-Prot

MEN1_HUMAN
  • Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]: Autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia. {ECO:0000269 PubMed:10090472, ECO:0000269 PubMed:10229909, ECO:0000269 PubMed:10534569, ECO:0000269 PubMed:10576763, ECO:0000269 PubMed:10617276, ECO:0000269 PubMed:10660339, ECO:0000269 PubMed:10664520, ECO:0000269 PubMed:10849016, ECO:0000269 PubMed:10993647, ECO:0000269 PubMed:11102994, ECO:0000269 PubMed:11134142, ECO:0000269 PubMed:11241849, ECO:0000269 PubMed:12050235, ECO:0000269 PubMed:12112656, ECO:0000269 PubMed:12417605, ECO:0000269 PubMed:12652570, ECO:0000269 PubMed:12746426, ECO:0000269 PubMed:12791038, ECO:0000269 PubMed:14686752, ECO:0000269 PubMed:14992727, ECO:0000269 PubMed:15714081, ECO:0000269 PubMed:15730416, ECO:0000269 PubMed:17555499, ECO:0000269 PubMed:9103196, ECO:0000269 PubMed:9215689, ECO:0000269 PubMed:9215690, ECO:0000269 PubMed:9463336, ECO:0000269 PubMed:9506756, ECO:0000269 PubMed:9671267, ECO:0000269 PubMed:9683585, ECO:0000269 PubMed:9709921, ECO:0000269 PubMed:9709976, ECO:0000269 PubMed:9709985, ECO:0000269 PubMed:9740255, ECO:0000269 PubMed:9747036, ECO:0000269 PubMed:9820618, ECO:0000269 PubMed:9832038, ECO:0000269 PubMed:9888389, ECO:0000269 PubMed:9989505}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial isolated hyperparathyroidism (FIHP) [MIM:145000]: Autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors. {ECO:0000269 PubMed:10634381, ECO:0000269 PubMed:10664521, ECO:0000269 PubMed:12016470, ECO:0000269 PubMed:12699448, ECO:0000269 PubMed:9792884, ECO:0000269 PubMed:9843042, ECO:0000269 PubMed:9888389}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(78) Novoseek inferred disease relationships for MEN1 Gene

Disease -log(P) Hits PubMed IDs
multiple endocrine neoplasia type 1 97.9 122
multiple endocrine neoplasia 90 17
hrpt2 85.4 17
gastrinoma 85.3 9
hyperparathyroidism 84.8 43

Genatlas disease for MEN1 Gene

endocrine neoplasia,multiple,type 1,hyperparathyroidism,gastrinoma,somatotrophinoma,prolactinoma,Wermer syndrome (MEN1 defect),including somatic mutations in sporadic neuroendocrine and pancreatic tumors,and carcinoid tumors of lungs and in fore foregut neoplasms,excluding the sporadic hyperplastic or neoplastic lesions of the adrenal cortex

Relevant External Links for MEN1

GeneTests
MEN1
GeneReviews
MEN1
Genetic Association Database (GAD)
MEN1
Human Genome Epidemiology (HuGE) Navigator
MEN1
genes like me logo Genes that share disorders with MEN1: view

Publications for MEN1 Gene

  1. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. (PMID: 9215689) Agarwal S.K. … Marx S.J. (Hum. Mol. Genet. 1997) 3 4 23
  2. Somatic mutation of the MEN1 gene in parathyroid tumours. (PMID: 9241276) Heppner C. … Marx S.J. (Nat. Genet. 1997) 3 4 23
  3. Positional cloning of the gene for multiple endocrine neoplasia-type 1. (PMID: 9103196) Chandrasekharappa S.C. … Marx S.J. (Science 1997) 3 4 23
  4. Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas. (PMID: 9740255) Boeni R. … Zhuang Z. (J. Invest. Dermatol. 1998) 3 4 23
  5. A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors. (PMID: 9792884) Teh B.T. … Harris P.E. (Am. J. Hum. Genet. 1998) 3 4 23

Products for MEN1 Gene

  • Addgene plasmids for MEN1

Sources for MEN1 Gene

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