Recombinant Human Lysine-specific demethylase 6A (KDM6A), partial

1. The histone demethylase UTX/KDM6A is mutated in up to 10% of cases of multiple myeloma, activating genes by removing the H3K27me3 repressive histone mark, counteracting EZH2 activity. PMID: 30166694
2. Lymphomas with low UTX expression express high levels of Efnb1, and cause significantly poor survival. PMID: 30006524
3. data suggest that haploinsufficiency for KDM6A due to mosaic X chromosome monosomy may be responsible for hyperinsulinism in Turner syndrome. PMID: 29902804
4. High UTX expression is independently associated with a better prognosis in patients with esophageal squamous cell carcinoma (ESCC) and downregulation of UTX increases ESCC cell growth and decreases E-cadherin expression. Our results suggest that UTX may be a novel therapeutic target for patients with ESCC. PMID: 29351209
5. Depletion of KDM6A inhibits the expression of SOX9, Col2a1, ACAN and results in increased H3K27me3 and decreased H3K4me3 levels. PMID: 29171124
6. Rebalance of Histone h3 lysine 27 methylation 3 levels at specific genes through EZH2 inhibitors may be a therapeutic strategy in multiple myeloma cases harboring UTX mutations. PMID: 29045832
7. both UTX and UTY function as dose-dependent suppressors of urothelial bladder cancer development PMID: 27533081
8. Two novel missense mutations: p.G325A in the KDM6A gene responsible for Kabuki syndrome and p.G1877V in the SCN1A gene responsible for generalized epilepsy with febrile seizures plus were identified using the TruSight One sequencing panel. PMID: 28442529
9. inactivating mutations of KDM6A, which are common in urothelial bladder carcinoma, are potentially targetable by inhibiting EZH2. PMID: 28228601
10. Study presents a mutation screening of patients with Kabuki syndrome type 1 which identified 208 mutations in KMT2D. Two of the KDM6A mutations were maternally inherited and nine were shown to be de novo. PMID: 27302555
11. Data show that more mutations in the histone lysine demethylase KDM6A were present in non-invasive tumors from females than males. PMID: 29136510
12. Here, we discuss the roles of lysine 27 demethylases, JMJD3 and UTX, in cancer and potential therapeutic avenues targeting these enzymes. Despite a high degree of sequence similarity in the catalytic domain between JMJD3 and UTX, numerous studies revealed surprisingly contrasting roles in cellular reprogramming and cancer, particularly leukemia PMID: 27151432
13. we identified a novel de novo deletion of KDM6A in a Chinese girl with KS. We consider her allergic skin manifestations to be part of the phenotypic spectrum of KS PMID: 27028180
14. KDM6A and p21CIP1 expression are essential to curb E7 induced replication stress to levels that do not markedly interfere with cell viability PMID: 28968467
15. Study identified a feed-forward loop between UTX and ER in the regulation of hormonally responsive breast carcinogenesis. PMID: 28534508
16. Mutation in KDM6A gene is associated with cancer more frequently in males. PMID: 27869828
17. Pathogenic variants in KMT2D resulting in protein truncation in 43% (6/14; of which 3 are novel) of all cases were detected, while analysis of KDM6A was negative. MLPA analysis was negative in all instances. PMID: 26841933
18. Kdm6a and Kdm6b were found to be significantly overexpressed in Malignant pleural mesothelioma (MPM) at the mRNA level. However, tests examining if targeting therapeutically Kdm6a/b using a specific small molecule inhibitor was potentially useful for treating MPM, revealed that members of the Kdm6 family may not be suitable candidates for therapy PMID: 28197626
19. The results define UTX as a bivalency-resolving histone modifier necessary for stem cell differentiation PMID: 26762983
20. UTX gene expression in renal cell carcinoma and bladder cancer. PMID: 27983522
21. Mutations of the epigenetic genes KMT2D and KDM6A cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome PMID: 26898171
22. UTX positively regulates E-cadherin expression in colon cancer cells. PMID: 26819089
23. UTX is a prominent tumour suppressor that functions as a negative regulator of EMT-induced Cancer Stem Cell-like properties by epigenetically repressing epithelial-mesenchymal transition -TFs. PMID: 26303947
24. Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A. PMID: 26049589
25. Our results provide further support for the similar roles of KMT2D and KDM6A in the etiology of KS by using a vertebrate model organism to provide direct evidence of their roles in the development of organs and tissues affected in KS patients. PMID: 25972376
26. Turner Syndrome subjects, who are predisposed to chronic ear infections, had reduced UTX expression in immune cells and decreased circulating CD4(+) CXCR5(+) T cell frequency. PMID: 26431949
27. A report of novel KDM6A mutations in patients with Kabuki syndrome. PMID: 24527667
28. The KDM6A gene is a histone demethylase specific for histone H3 Lysin 27 and regulates gene transcription [35]. In approximately 24% of urothelial carcinoma, KDM6A is altered. PMID: 26138514
29. This study is the first to identify frequent BAP1 and BRCA pathway alterations in bladder cancer, show TERT promoter alterations are independent of other bladder cancer gene alterations, and show KDM6A loss is a driver of the bladder cancer phenotype. PMID: 25225064
30. One girl had a novel splice-site mutation in KDM6A. PMID: 24739679
31. Mutations in KMT2D gene were identified in 10/16 (62%) of the patients, whereas none of the patients had KDM6A mutations. PMID: 25281733
32. H3K27me3 demethylase UTX is a gender-specific tumor suppressor in T-cell acute lymphoblastic leukemia PMID: 25320243
33. results demonstrate that UTX is implicated in IL-4 mediated transcriptional activation of the ALOX15 gene PMID: 24465480
34. Results show that UTX interacts with the retinoic acid receptor alpha (RARalpha) and this interaction is essential for proper differentiation of leukemic U937 cells in response to retinoic acid. PMID: 25071154
35. Both Ezh2 and Kdm6a were shown to affect expression of master regulatory genes involved in adipogenesis and osteogenesis. PMID: 24123378
36. High levels of UTX or MLL4 are associated with poor prognosis in patients with breast cancer. PMID: 24491801
37. The identification of novel KDM6A mutations in patients with Kabuki syndrome. PMID: 23913813
38. PBRM1, KDM6A, SETD2 and BAP1 were unmethylated in all tumor and normal specimens. PMID: 23644518
39. KDM6A is overexpressed in breast cancer patients with an unfavorable prognosis (mortality at 1 year, p=8.65E-7). PMID: 23266085
40. This study demonistrated that KDM6A mutations were most commonly identified in subgroups in medulloblastoma. PMID: 23184418
41. UTX histone demethylase plays important functional role in epigenetic alteration of HOX clusters during retinoic acid-induced neural differentiation. PMID: 23527641
42. KDM6A contributes to the activation of WNT3 and DKK1 at different differentiation stages when WNT3 and DKK1 are required for mesendoderm and definitive endoderm differentiation. PMID: 22907667
43. UTX regulates stem cell migration and hematopoiesis. PMID: 23365460
44. Microdeletions and microduplications have not been identified in the MLL2 and KDM6A genes of a large cohort of patients with Kabuki syndrome. PMID: 22840376
45. UXT is a potential interactor of HBV Pol. PMID: 21515470
46. PAN RNA interacts with demethylases JMJD3 and UTX, and the histone methyltransferase MLL2 PMID: 22589717
47. identification of Utx as a novel mediator with distinct functions during the re-establishment of pluripotency and germ cell development PMID: 22801502
48. demonstrate that UTX directly associates with the promoters of the Mll1, Runx1, and Scl genes and modulate their transcription by controlling H3K27me3 marks on respective promoter regions. PMID: 22306297
49. This study identifies KDM6A mutations as another cause of Kabuki syndrome and highlights the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly and intellectual-disability syndromes. PMID: 22197486
50. H3K27 demethylation by JMJD3 at a poised enhancer of anti-apoptotic gene BCL2 determines ERalpha ligand dependency PMID: 21841772

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HGNC: 12637

OMIM: 300128

KEGG: hsa:7403

STRING: 9606.ENSP00000367203

UniGene: Hs.522616