Histone lysine demethylase PHF8
PHF8 belongs to the JHDM1 family of demethylases that exhibits substrate specificity towards H3K9 dimethylation and is involved in the regulation of ribosomal RNA (PMID: 20531378). PH8 is implicated in X-linked mental retardation associated with cleft lip and cleft palate (PMID: 17594395). It is also shown to be a co-activator of retinoic acid receptor and is important for neuronal differentiation (PMID: 20548336). PHF8 works in conjugation with E2F1 and controls G1-S phase transition. Similarly, inhibition of PHF8 during prophase is important for proper cell cycle progression (PMID: 20622854).
| UniprotKB Accession | Q9UPP1 |
|---|---|
| Alternative Name(s) | PHD finger protein 8 |
| Eraser for PTM/s | H3K9me2, H3K4me3, H4K20me1, H3K27me2 |
| EC number | 1.14.11.27 |
| No. of coding genes | Histone lysine demethylase PHF8 is coded by following 1 non-allelic gene/s |
| Gene name | PHD finger protein 8 |
| Gene symbol | PHF8 |
| Promoter region (-700 TSS +300) | Get sequence |
| Previous Symbol/s | |
| Aliases | ZNF422, KIAA1111, JHDM1F |
| GeneID | 23133 |
| Chromosomal location | Xp11.22 |
| HGNC | 20672 |
| Unigene | Hs.726110 |
| MIM | 300560 |
| RefSeq mRNA | NM_015107.2 |
| RefSeq Protein | NP_055922.1 |
| Disease associations | Mental disorder: X-linked mental retardation; PMID: 16199551 |
Lysine demethylases Histone lysine demethylase PHF8, Lysine-specific demethylase 2A, Lysine-specific demethylase 2B, Lysine-specific demethylase 3A, Lysine-specific demethylase 3B, Lysine-specific demethylase 4A, Lysine-specific demethylase 4B, Lysine-specific demethylase 4C, Lysine-specific demethylase 4D, Lysine-specific demethylase 5A, Lysine-specific demethylase 5B, Lysine-specific demethylase 5C, Lysine-specific demethylase 5D, Lysine-specific demethylase 6A, Lysine-specific demethylase 6B, Lysine-specific demethylase 7, Lysine-specific demethylase 8, Lysine-specific demethylase NO66, Lysine-specific histone demethylase 1A, Lysine-specific histone demethylase 1B