InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PHF8

Summary

InnateDB Protein

IDBP-70696.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PHF8

Protein Name

PHD finger protein 8

Synonyms

JHDM1F; MRXSSD; ZNF422;

Species

Homo sapiens

Ensembl Protein

ENSP00000319473

InnateDB Gene

IDBG-70682 (PHF8)

Protein Structure

UniProt Annotation

Function

Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 'Lys-9' residue (H3K9Me1 and H3K9Me2), dimethylated H3 'Lys-27' (H3K27Me2) and monomethylated histone H4 'Lys-20' residue (H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNA transcription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for brain development, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 when nucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activity toward dimethylated H3 'Lys-36' (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activity toward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3. {ECO:0000269PubMed:19843542, ECO:0000269PubMed:20023638, ECO:0000269PubMed:20101266, ECO:0000269PubMed:20208542, ECO:0000269PubMed:20346720, ECO:0000269PubMed:20421419, ECO:0000269PubMed:20531378, ECO:0000269PubMed:20548336, ECO:0000269PubMed:20622853, ECO:0000269PubMed:20622854}.

Subcellular Localization

Nucleus. Nucleus, nucleolus. Note=Recruited to H3K4me3 sites on chromatin during interphase. Dissociates from chromatin when cells enter mitosis.

Disease Associations

Mental retardation, X-linked, syndromic, Siderius type (MRXSSD) [MIM:300263]: A syndrome characterized by mild to borderline mental retardation with or without cleft lip/cleft palate. {ECO:0000269PubMed:16199551, ECO:0000269PubMed:17661819}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.