Recombinant Human Lysine-specific demethylase 5C (KDM5C), partial

1. SETD2 and KDM5C mutations were associated with prolonged overall survival in patients with metastatic clear cell renal cell carcinoma PMID: 28408295
2. KDM5C expression was generally lower in cancer lesions compared with matched nontumor tissues. KDM5C has a vital function in inhibiting cell mobility, which is at least partially controlled by the p53. PMID: 26858085
3. Mutation in KDM5C gene is associated with cancer more frequently in males. PMID: 27869828
4. In vitro models indicated that KDM5C suppressed miR-320a transcription by directly binding to the promoter of miR-320a to prevent histone methylation. KITLG, an essential gene for ovarian development and primordial germ cell survival, was a direct target of miR-320a and that it was downregulated in 45,X fetal gonadal tissues. PMID: 27896428
5. The two mutations are present on the same maternal haplotype, suggesting that a postzygotic somatic mutation or a reversion error occurred at an early embryonic stage in the mother, leading to switched KDM5C mutations in the affected siblings. PMID: 26919706
6. The predicted structure of KDM5C was used to investigate the effects of disease-causing mutations, and it was shown that the mutations alter domain stability and inter-domain interactions. PMID: 27696497
7. Results suggest that KDM5C mutations predispose to X-linked intellectual disability which accounts for 1-4% of cases in male patient. PMID: 27211531
8. the extent of the duplicated regions in each case encompassing a minimum of three known disease genes TSPYL2, KDM5C and IQSEC2, is reported. PMID: 26059843
9. KDM5C is overexpressed in breast cancer cells and miR-138 regulates its expression. PMID: 26621457
10. study of non-synonymous mutations in the KDM5C ARID domain and evaluates effects of 2 syndromic Claes-Jensen-type disease-associated missense mutations (A77T and D87G) and 3 non-classified missense mutations (R108W, N142S, and R179H); analysis indicates, among the non-classified mutations, R108W is possibly a disease-associated mutation, and N142S and R179H are probably harmless PMID: 26580603
11. Findings reveal a RACK7/KDM5C-regulated, dynamic interchange between histone H3K4me1 and H3K4me3 at active enhancers, representing an additional layer of regulation of enhancer activity. Authors propose that RACK7/KDM5C functions as an enhancer "brake" to ensure appropriate enhancer activity, which, when compromised, could contribute to tumorigenesis. PMID: 27058665
12. Expression of KDM5C in hepatocellular carcinoma tumor cells promoted cell migration and tumor invasion. PMID: 26503415
13. Characterization of a Linked Jumonji Domain of the KDM5/JARID1 Family of Histone H3 Lysine 4 Demethylases. PMID: 26645689
14. these data suggest that inactivation of JARID1C in renal cancer leads to heterochromatin disruption, genomic rearrangement, and aggressive ccRCCs. PMID: 26551685
15. Mutations in KDM5C gene in patients are described and their effect on gene expression, stability and catalytic activity is examined. Patient fibroblasts do not show global changes in histone methylation but several up-regulated genes were identified. PMID: 25666439
16. BRMS1 expression in human breast cancer is negatively correlated with JARID1C expression. Our results, for the first time, portray a pivotal role of JARID1C in regulating metastatic behaviors of breast cancer cells PMID: 26182878
17. Data indicate the role for histone demethylase KDM5C/JARID1C in a specific phase of DNA replication in mammalian cells, through its demethylase activity on histone H3K4me3. PMID: 25712104
18. KDM5C is functionally involved in proliferation control of prostate cancer cells PMID: 25016185
19. These findings suggest that E2 recruits histone-modifying cellular proteins to the HPV LCR, resulting in transcriptional repression of E6 and E7. PMID: 25222147
20. Results indicate a KDM5C pathogenic mutational frequency of 0.7% among males with probable X-linked intellectual disability (XLID). PMID: 24583395
21. Mutation frequencies among CT images of clear cell RCCs were as follows: KDM5C, 6.9% (16 of 233). PMID: 24029645
22. DNA methylation at these three genes in blood correlated with dosage of KDM5C. PMID: 23356856
23. We established that ARX polyA alterations damage the regulation of KDM5C expression. PMID: 23246292
24. Herein we present a large family with X Linked Intellectual Disability caused by a novel mutation c.2T > C in the start codon of the KDM5C gene PMID: 22326837
25. The KDM5C mutation carriers had higher mean scores on the abstract/visual and quantitative sections of the Stanford-Binet Intelligence Scale: Fourth Edition and lower mean short term memory scores. PMID: 22611640
26. we describe clinical and genetic findings of a Brazilian family co-segregating a novel nonsense mutation (c.2172C>A) in exon 15 of KDM5C gene PMID: 21575681
27. the JmjN domain of Jhd2 is important for its protein stability, and the plant homeodomain (PHD) finger mediates its chromatin association independent of H3K4 methylation PMID: 20538609
28. The two novel changes impair JARID1C protein function and are disease-causing mutations in the families reported. PMID: 19826449
29. JARID1C may have a role in X-Linked Mental Retardation PMID: 16538222
30. JARID1C appears to be one of the more frequently mutated genes in X-linked mental retardation. PMID: 16541399
31. We show that the X-linked mental retardation gene SMCX, which encodes a JmjC-domain protein, reversed histone H3 lysine 4 to di- and mono- but not unmethylated products. PMID: 17320160
32. has H3K4 tri-demethylase activity; functions as transcriptional repressor; loss of JARID1C/SMCX activity impairs REST-mediated neuronal gene regulation, thereby contributing to SMCX-associated X-linked mental retardation PMID: 17468742
33. Thus, SMCX is a novel Smad3 corepressor that may antagonize the tumor suppressing activity of the TGF-beta/Smad3 signaling pathway and thereby contribute to tumorigenesis. PMID: 18078810
34. male patients with mental retardation, short stature and hyperreflexia should be considered candidates for mutations in the JARID1C gene. PMID: 18697827
35. human NOT4 can polyubiquitinate human JARID1C/SMCX, a homolog of Jhd2, suggesting that this is likely a conserved mechanism PMID: 19346402

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HGNC: 11114

OMIM: 300534

KEGG: hsa:8242

STRING: 9606.ENSP00000364550

UniGene: Hs.631768