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

General

histone demethylase phosphoprotein tetratricopeptide repeat protein

Properties

SIZE: entity length = 1401 aa MW = 154 kD COMPARTMENT: cell nucleus MOTIF: alanine-rich region {9-17} MOTIF: alanine residue (SEVERAL) tetratricopeptide repeat {93-126} tetratricopeptide repeat {130-163} tetratricopeptide repeat {170-199} tetratricopeptide repeat {205-238} tetratricopeptide repeat {250-283} tetratricopeptide repeat {284-317} tetratricopeptide repeat {318-351} tetratricopeptide repeat {352-385} Ser phosphorylation site {S769} Ser phosphorylation site {S818} Ser phosphorylation site {S829} Ser phosphorylation site {S1061} JmjC {1095-1258} MOTIF: Iron [Fe]-binding site SITE: 1146-1146 Iron [Fe]-binding site SITE: 1148-1148

Database Correlations

OMIM correlations UniProt O15550 PFAM correlations Entrez Gene 7403 Kegg hsa:7403

References

UniProt :accession O15550