PRDM8

This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Description

PR/SET domain 8

Tissue specificity

Tissue enhanced (prostate, retina, seminal vesicle)

Subcell location

Nucleoplasm, Nuclear bodies

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

4 (80183879 - 80204329)

Ensembl ID

ENSG00000152784  (ver. 103.38)

Orthologs

Mouse Prdm8: ENSMUSG00000035456

UniProt

Q9NQV8

neXtProt

NX_Q9NQV8

Human splice variants
Mouse splice variants

Protein structure