Family

Histone demethylase UTY (IPR029516)

Short name: KDM6C

Family relationships

None.

Description

UTX (also known as lysine-specific demethylase 6A, KDM6A), JMJD3 (also known as KDM6B) and UTY (also known as KDM6C) are the members of the JmjC (Jumonji C) subfamily of the histone lysine demethylases family (KDM). They are histone demethylases that catalyse demethylation of H3K27, a mark important for transcriptional repression [PMID: 24798337].

This entry consists of UTX and UTY. UTX is involved in regulating animal anterior-posterior development [PMID: 17851529]. The demethylation of H3K27 by KDM6A also regulates polycomb recruitment and H2A ubiquitination [PMID: 17761849]. Despite earlier reports stating that UTY is inactive as a KDM, it has been shown to have reduced levels of catalytic activity when compared to KDM6A/B in vitro [PMID: 24798337]. The UTY gene is the male counterpart of UTX. It is localised on the Y chromosome and has been characterised as a male-specific N{epsilon}-methyl lysyl-demethylase [PMID: 24798337].

Mutations in the KDM6A gene have been linked to the Kabuki syndrome 2 (KABUK2). Kabuki syndrome (KS) is a rare genetic disease that causes developmental delay and congenital anomalies [PMID: 22197486].

GO terms

Biological Process

GO:0071557 histone H3-K27 demethylation
GO:0010468 regulation of gene expression

Molecular Function

GO:0071558 histone demethylase activity (H3-K27 specific)
GO:0046872 metal ion binding

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER