Domain

KMT2D, ePHD1 domain (IPR041961)

Short name: KMT2D_ePHD1

Overlapping homologous superfamilies

Domain relationships

Description

This entry represents the first ePHD finger of Histone-lysine N-methyltransferase 2D (KMT2D).

The extended plant homeodomain (ePHD) zinc finger is characterized as Cys2HisCys5HisCys2His. KMT2D, also known as ALR or MLL4, is a fourth human homologue of Drosophila trithorax, located on chromosome 12 [PMID: 9247308]. KMT2D enzymatically generates trimethylated histone H3 at Lys 4 (H3K4me3). It acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription [PMID: 16603732]. It is also a part of activating signal cointegrator-2 (ASC-2)-containing complex (ASCOM) that contains the transcriptional coactivator nuclear receptor coactivator 6 (NCOA6), KMT2C and KMT2D. The ASCOM complex is critical for nuclear receptor (NR) activation of bile acid transporter genes and is down regulated in cholestasis [PMID: 12482968]. KMT2D contains the catalytic domain SET, five PHD fingers, two ePHD fingers, a RING finger, an HMG (high-mobility group)-binding motif, and two FY-rich regions.

Mutations in the KMT2D gene have been linked to Kabuki syndrome [PMID: 30514738, PMID: 21280141].

Contributing signatures

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