InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MEN1

Summary

InnateDB Protein

IDBP-241710.6

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

ENSP00000377899

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:0003690	double-stranded DNA binding
GO:0005515	protein binding
GO:0018024	histone-lysine N-methyltransferase activity
GO:0030674	protein binding, bridging
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:0001933	negative regulation of protein phosphorylation
GO:0002076	osteoblast development
GO:0006281	DNA repair
GO:0006351	transcription, DNA-templated
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0006974	cellular response to DNA damage stimulus
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0008285	negative regulation of cell proliferation
GO:0009411	response to UV
GO:0010332	response to gamma radiation
GO:0010467	gene expression
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway
GO:0032092	positive regulation of protein binding
GO:0034968	histone lysine methylation
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045668	negative 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:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0046329	negative regulation of JNK cascade
GO:0051974	negative regulation of telomerase activity

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