Lysine-specific demethylase 6A

KDM6A belongs to the UTX family of demethylases and contains the JmJC domain. UTX is involved in the demethylation of H3K27me3 and controls the expression of Hox genes during development by altering the recruitment of Polycomb repressive complex 1 (PRC1) to the Hox gene cluster (PMID: 17713478, PMID: 17761849). The UTX gene is present on the X chromosome and is found to escape X inactivation (PMID: 9499428). KDM6A levels are found to be upregulated in Human papilloma virus-associated cancers by a viral oncoprotein E7 and is a potential target for therapy (PMID: 21245294). Mutations in UTX which cause its inactivation are shown to alter transcriptional regulation and result in proliferation of human cancers (PMID: 19330029).

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Lysine-specific demethylase 6A infosheet
UniprotKB AccessionO15550
Alternative Name(s)Histone demethylase UTX, Ubiquitously-transcribed TPR protein on the X chromosome, Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein
Eraser for PTM/s H3K27me3
EC number 1.14.11.-
No. of coding genesLysine-specific demethylase 6A is coded by following 1 non-allelic gene/s
Gene namelysine (K)-specific demethylase 6A
Gene symbolKDM6A
Promoter region (-700 TSS +300)Get sequence
Previous Symbol/sUTX
Aliases
GeneID7403
Chromosomal locationXp11.2
HGNC12637
UnigeneHs.522616
MIM300128
RefSeq mRNANM_021140.2
RefSeq ProteinNP_066963.2
Disease associations
Cancer: ; PMID: 19330029
Cancer: Transitional cell carcinoma (TCC)/ Bladder cancer; PMID: 21822268

Lysine demethylases Histone lysine demethylase PHF8, Lysine-specific demethylase 2A, Lysine-specific demethylase 2B, Lysine-specific demethylase 3A, Lysine-specific demethylase 3B, Lysine-specific demethylase 4A, Lysine-specific demethylase 4B, Lysine-specific demethylase 4C, Lysine-specific demethylase 4D, Lysine-specific demethylase 5A, Lysine-specific demethylase 5B, Lysine-specific demethylase 5C, Lysine-specific demethylase 5D, Lysine-specific demethylase 6A, Lysine-specific demethylase 6B, Lysine-specific demethylase 7, Lysine-specific demethylase 8, Lysine-specific demethylase NO66, Lysine-specific histone demethylase 1A, Lysine-specific histone demethylase 1B