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Protein: MEN1_MOUSE

Menin

FUNCTION: Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4) (By similarity). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression (By similarity). Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity (By similarity). Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA (By similarity). Positively regulates HOXC8 and HOXC6 gene expression (By similarity). May be involved in normal hematopoiesis through the activation of HOXA9 expression. May be involved in DNA repair. more...

SUBUNIT: Component of MLL-containing complexes (named MLL, ASCOM, MLL2/MLL3 or MLL3/MLL4 complex): at least composed ASH2L, RBBP5, DPY30, WDR5, one or several histone methyltransferases (MLL, MLL2, MLL3 and/or MLL4), and the facultative components MEN1, HCFC1, HCFC2, NCOA6, KDM6A, PAXIP1/PTIP and C16orf53/PA1. Interacts with POLR2A phosphorylated at 'Ser-5', but not with the unphosphorylated, nor 'Ser-2' phosphorylated POLR2A forms (By similarity). Interacts with FANCD2 and DBF4 (By similarity). Interacts with SMAD3, but not with SMAD2, nor SMAD4 (By similarity). Directly interacts with NFKB1, NFKB2 and RELA (By similarity). Interacts with JUND.

SUBCELLULAR LOCATION: Nucleus. Note=May be perinuclear in testis (PubMed:9824159).

ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O88559-1; Sequence=Displayed; Name=2; IsoId=O88559-2; Sequence=VSP_041100; Note=No experimental confirmation available;

TISSUE SPECIFICITY: Widely expressed, with high levels in hippocampus, cerebral cortex, testis and thymus (at protein level). Also expressed at high levels in pancreatic islets, ovary and bone marrow. In the brain, highest expression in hippocampus pyramidal nerve cells (at protein level). In the testis, may be expressed in spermatogonia (at protein level). Low expression, if any, in skeletal muscle. DEVELOPMENTAL STAGE: First detected at 7 dpc. At 13.5 dpc, expressed throughout the embryo, including forelimb, gut, head, heart and lung. At 17 dpc, expression becomes more restricted, with high levels mainly in the thymus, skeletal muscle, brain and spinal cord. DISRUPTION PHENOTYPE: Homozygous mice die in utero at 11.5-12.5 dpc. At 9 months of age, heterozygous mice develop pancreatic islet lesions, from hyperplasia to insulin-producing islet cell tumors, and frequently parathyroid adenomas. Larger, more numerous tumors involving pancreatic islets, parathyroids, thyroid, adrenal cortex and pituitary are seen by 16 months. All tumors show loss of the wild-type allele.

SEQUENCE CAUTION: Sequence=BAE32542.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.

 

Organism:

  • Mus musculus

Gene Symbol:

  • Men1

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