External Ids for MEN1 Gene
Previous GeneCards Identifiers 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 (Menin 1) is a Protein Coding gene. Diseases associated with MEN1 include Multiple Endocrine Neoplasia 1 and Hyperparathyroidism, Familial Primary. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and RHO GTPases activate IQGAPs. 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.