lysine-specific demethylase 6A; histone demethylase UTX; ubiquitously-transcribed TPR protein on the X chromosome; ubiquitously-transcribed X chromosome tetratricopeptide repeat protein (KDM6A, UTX)

Function

• histone demethylase
• specifically demethylates Lys-27 of histone H3, thus playing a role in histone code
• demethylates trimethylated & dimethylated Lys-27 of histone H3
• does not demethylate monomethylated Lys-27 of histone H3
• role in regulation of posterior development, by regulating HOX gene expression
• demethylation of Lys-27 of histone H3 is concomitant with methylation of Lys-4 of histone H3, & regulates recruitment of the PRC1 complex & monoubiquitination of histone H2A
• interacts with TLE1 (putative)
• component of the MLL3/MLL4 complex

Cofactor:

• ascorbate
• Fe+2

Structure

• belongs to the UTX family
• contains 1 JmjC domain
• contains 8 TPR repeats

Compartment

nucleus (probable)

Pathology

• defects in KDM6A are the cause of Kabuki syndrome type 2

Genetics

• escapes X chromosome inactivation

More general terms

• tetratricopeptide repeat protein
• phosphoprotein
• histone demethylase

Component of

• MLL3/MLL4 complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7403
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7403
• OMIM: https://mirror.omim.org/entry/300128
• OMIM: https://mirror.omim.org/entry/300867
• UniProt: http://www.uniprot.org/uniprot/O15550.html