Homo sapiens Gene: MEN1
Summary
InnateDB Gene IDBG-55362.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MEN1
Gene Name multiple endocrine neoplasia I
Synonyms MEAI; SCG2
Species Homo sapiens
Ensembl Gene ENSG00000133895
Encoded Proteins
multiple endocrine neoplasia I
multiple endocrine neoplasia I
multiple endocrine neoplasia I
multiple endocrine neoplasia I
multiple endocrine neoplasia I
multiple endocrine neoplasia I
multiple endocrine neoplasia I
multiple endocrine neoplasia I
multiple endocrine neoplasia I
multiple endocrine neoplasia I
multiple endocrine neoplasia I
multiple endocrine neoplasia I
multiple endocrine neoplasia I
multiple endocrine neoplasia I
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:64803510-64811294
Strand Reverse strand
Band q13.1
Transcripts
ENST00000315422 ENSP00000323747
ENST00000312049 ENSP00000308975
ENST00000377326 ENSP00000366543
ENST00000377321 ENSP00000366538
ENST00000377316 ENSP00000366533
ENST00000337652 ENSP00000337088
ENST00000377313 ENSP00000366530
ENST00000394376 ENSP00000377901
ENST00000394374 ENSP00000377899
ENST00000440873 ENSP00000413944
ENST00000450708 ENSP00000394933
ENST00000413626 ENSP00000411218
ENST00000429702 ENSP00000402752
ENST00000424912 ENSP00000388016
ENST00000478548
ENST00000487019
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription pathway
Generic Transcription Pathway pathway
SMAD4 MH2 Domain Mutants in Cancer pathway
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
Signaling by WNT in cancer pathway
Loss of Function of SMAD4 in Cancer pathway
Loss of Function of SMAD2/3 in Cancer pathway
Signaling by TGF-beta Receptor Complex in Cancer pathway
Signaling by Wnt pathway
deactivation of the beta-catenin transactivating complex pathway
TGFBR2 MSI Frameshift Mutants in Cancer pathway
Signal Transduction pathway
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer pathway
SMAD2/3 MH2 Domain Mutants in Cancer pathway
Loss of Function of TGFBR2 in Cancer pathway
SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway
TCF dependent signaling in response to WNT pathway
TGFBR1 KD Mutants in Cancer pathway
RNF mutants show enhanced WNT signaling and proliferation pathway
Loss of Function of TGFBR1 in Cancer pathway
formation of the beta-catenin:TCF transactivating complex pathway
TGFBR1 LBD Mutants in Cancer pathway
TGFBR2 Kinase Domain Mutants in Cancer pathway
XAV939 inhibits tankyrase, stabilizing AXIN pathway
Gene Expression pathway
Disease pathway
Signaling by TGF-beta Receptor Complex pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.423348
RefSeq NM_000244 NM_130799 NM_130800 NM_130801 NM_130802 NM_130803 NM_130804 XM_005274001 XM_005274002 XM_005274003 XM_006718557
HUGO
OMIM
CCDS CCDS31600 CCDS8083
HPRD 00564
IMGT
EMBL
GenPept
RNA Seq Atlas