PHF8

The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

Description

PHD finger protein 8

Tissue specificity

Tissue enhanced (epididymis)

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (53936676 - 54048958)

Ensembl ID

ENSG00000172943  (ver. 103.38)

Orthologs

Mouse Phf8: ENSMUSG00000041229

UniProt

Q9UPP1

neXtProt

NX_Q9UPP1

Human splice variants
Mouse splice variants

Protein structure