KDM6B - lysine demethylase 6B (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2025-02-02
Description
The protein encoded by the KDM6B gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
Enables histone H3K27me2/H3K27me3 demethylase activity. Predicted to be involved in several processes, including cardiac muscle cell differentiation; mesodermal cell differentiation; and positive regulation of metabolic process. Predicted to act upstream of or within cell fate commitment and cellular response to hydrogen peroxide. Predicted to be located in nucleus. Predicted to be part of MLL3/4 complex. Implicated in Stolerman neurodevelopmental syndrome. Biomarker of breast carcinoma and renal cell carcinoma.
- JMJD3
- NEDCFSA
- NEDSST
- lysine-specific demethylase 6B
- [histone H3]-trimethyl-L-lysine(27) demethylase 6B
- jmjC domain-containing protein 3
- jumonji domain containing 3, histone lysine demethylase
- jumonji domain-containing protein 3
- lysine (K)-specific demethylase 6B
Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code (PMID: 17713478, PMID: 17825402, PMID: 17851529, PMID: 18003914). Demethylates trimethylated and dimethylated H3 'Lys-27' (PMID: 17713478, PMID: 17825402, PMID: 17851529, PMID: 18003914). Plays a central role in regulation of posterior development, by regulating HOX gene expression (PMID: 17851529). Involved in inflammatory response by participating in macrophage differentiation in case of inflammation by regulating gene expression and macrophage differentiation (PMID: 17825402). Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression by acting as a link between T-box factors and the SMARCA4-containing SWI/SNF remodeling complex (By similarity).
Isoform
UniProt ID
RefSeq Accession
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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