功能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.
疾病相关Defects in MEN1 are the cause of 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. Defects in MEN1 are the cause of familial isolated hyperparathyroidism (FIHP) [MIM:145000]; also known as hyperparathyroidism type 1 (HRPT1). FIHP is an autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.
翻译后修饰Phosphorylated upon DNA damage, probably by ATM or ATR.
细胞定位Nucleus. Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.
Western blot - Anti-Menin antibody [EPR3986] (ab92443)
Predicted band size : 68 kDa
Lane 1: Wild-type HAP1 cell lysate (20 µg) Lane 2: Menin knockout HAP1 cell lysate (20 µg) Lane 3: Jurkat cell lysate (20 µg) Lane 4: A431 cell lysate (20 µg) Lanes 1 - 4: Merged signal (red and green). Green - ab92443 observed at 74 kDa. Red - loading control, ab8245, observed at 37 kDa. ab92443 was shown to recognize Menin when Menin knockout samples were used, along with additional cross-reactive bands. Wild-type and Menin knockout samples were subjected to SDS-PAGE. ab92443 and ab8245 (loading control to GAPDH) were diluted 1/10 000 and 1/2000 respectively and incubated overnight at 4°C. Blots were developed with goat anti-rabbit IgG (H + L) and goat anti-mouse IgG (H + L) secondary antibodies at 1/10 000 dilution for 1 h at room temperature before imaging.
Western blot - Menin antibody [EPR3986] (ab92443)
All lanes : Anti-Menin antibody [EPR3986] (ab92443) at 1/10000 dilution
Lane 1 : Jurkat cell lysate Lane 2 : 293T cell lysate Lane 3 : K-562 cell lysate Lane 4 : A431 cell lysate Lane 5 : HeLa cell lysate
Lysates/proteins at 10 µg per lane.
Secondary HRP labelled goat anti-rabbit at 1/2000 dilution