Version 5.4
Homo sapiens Protein: MEN1
Summary
InnateDB Protein IDBP-55374.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MEN1
Protein Name multiple endocrine neoplasia I
Synonyms MEAI; SCG2;
Species Homo sapiens
Ensembl Protein ENSP00000337088
InnateDB Gene IDBG-55362 (MEN1)
Protein Structure
UniProt Annotation
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. {ECO:0000250, ECO:0000269PubMed:11274402, ECO:0000269PubMed:11526476, ECO:0000269PubMed:12837246, ECO:0000269PubMed:12874027, ECO:0000269PubMed:14992727}.
Subcellular Localization Nucleus {ECO:0000269PubMed:12874027}. Note=Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.
Disease Associations 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:0000269PubMed:10090472, ECO:0000269PubMed:10229909, ECO:0000269PubMed:10534569, ECO:0000269PubMed:10576763, ECO:0000269PubMed:10617276, ECO:0000269PubMed:10660339, ECO:0000269PubMed:10664520, ECO:0000269PubMed:10849016, ECO:0000269PubMed:10993647, ECO:0000269PubMed:11102994, ECO:0000269PubMed:11134142, ECO:0000269PubMed:11241849, ECO:0000269PubMed:12050235, ECO:0000269PubMed:12112656, ECO:0000269PubMed:12417605, ECO:0000269PubMed:12652570, ECO:0000269PubMed:12746426, ECO:0000269PubMed:12791038, ECO:0000269PubMed:14686752, ECO:0000269PubMed:14992727, ECO:0000269PubMed:15714081, ECO:0000269PubMed:15730416, ECO:0000269PubMed:17555499, ECO:0000269PubMed:9103196, ECO:0000269PubMed:9215689, ECO:0000269PubMed:9215690, ECO:0000269PubMed:9463336, ECO:0000269PubMed:9506756, ECO:0000269PubMed:9671267, ECO:0000269PubMed:9683585, ECO:0000269PubMed:9709921, ECO:0000269PubMed:9709976, ECO:0000269PubMed:9709985, ECO:0000269PubMed:9740255, ECO:0000269PubMed:9747036, ECO:0000269PubMed:9820618, ECO:0000269PubMed:9832038, ECO:0000269PubMed:9888389, ECO:0000269PubMed: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:0000269PubMed:10634381, ECO:0000269PubMed:10664521, ECO:0000269PubMed:12016470, ECO:0000269PubMed:12699448, ECO:0000269PubMed:9792884, ECO:0000269PubMed:9843042, ECO:0000269PubMed:9888389}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitous.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 102 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 102 [view]
Protein-Protein 99 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000400 four-way junction DNA binding
GO:0000403 Y-form DNA binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003690 double-stranded DNA binding
GO:0005515 protein binding
GO:0018024 histone-lysine N-methyltransferase activity
GO:0030674 protein binding, bridging
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0047485 protein N-terminus binding
GO:0070412 R-SMAD binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000165 MAPK cascade
GO:0001503 ossification
GO:0001776 leukocyte homeostasis
GO:0001933 negative regulation of protein phosphorylation
GO:0002051 osteoblast fate commitment
GO:0002076 osteoblast development
GO:0006281 DNA repair
GO:0006338 chromatin remodeling
GO:0006351 transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006974 cellular response to DNA damage stimulus
GO:0007050 cell cycle arrest
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007420 brain development
GO:0008285 negative regulation of cell proliferation
GO:0009411 response to UV
GO:0010332 response to gamma radiation
GO:0010467 gene expression
GO:0016571 histone methylation
GO:0030097 hemopoiesis
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0031062 positive regulation of histone methylation
GO:0032092 positive regulation of protein binding
GO:0032925 regulation of activin receptor signaling pathway
GO:0034968 histone lysine methylation
GO:0043065 positive regulation of apoptotic process
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045597 positive regulation of cell differentiation
GO:0045668 negative regulation of osteoblast differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0045786 negative regulation of cell cycle
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046329 negative regulation of JNK cascade
GO:0046621 negative regulation of organ growth
GO:0048704 embryonic skeletal system morphogenesis
GO:0051781 positive regulation of cell division
GO:0051974 negative regulation of telomerase activity
GO:0060021 palate development
GO:0060135 maternal process involved in female pregnancy
Cellular Component
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016363 nuclear matrix
GO:0032154 cleavage furrow
GO:0035097 histone methyltransferase complex
GO:0043234 protein complex
Protein Structure and Domains
PDB ID
InterPro IPR007747 Menin
PFAM PF05053
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O00255
PhosphoSite PhosphoSite-O00255
TrEMBL Q9GZQ5
UniProt Splice Variant
Entrez Gene 4221
UniGene Hs.423348
RefSeq NP_570715
HUGO HGNC:7010
OMIM 613733
CCDS CCDS8083
HPRD 00564
IMGT
EMBL AJ297485 AJ297486 AJ297487 AJ297488 AJ297489 AP001462 BC002544 BC002664 EF443091 EF443092 EF443093 EF443094 EF443095 EF443096 EF443097 U93236 U93237
GenPept AAC51228 AAC51229 AAC51230 AAH02544 AAH02664 ABQ12621 ABQ12622 ABQ12623 ABQ12624 ABQ12625 ABQ12626 ABQ12627 CAC14129 CAC14130 CAC14131 CAC14132 CAC14133

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca