PHF8 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PHF8 |
| Official Name | PHD finger protein 8 [Source:HGNC Symbol;Acc:HGNC:20672] |
| Ensembl ID | ENSG00000172943 |
| Bio databases IDs | |
| Aliases | PHD finger protein 8, jumonji C domain-containing histone demethylase 1F, histone lysine demethylase PHF8 |
| Synonyms | 9830141C09Rik, JHDM1F, KDM7B, LOC102550078, mKIAA1111, MRXSSD, PHD finger protein 8, RGD1561065, ZNF422 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PHF8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PHD zinc finger
- Jumonji helical domain
- histone binding
- 2-oxoglutarate:oxygen oxidoreductase
- protein binding activity, bridging
- iron ion binding
- chromatin binding
- enzyme
- protein binding
- RmlC-like cupin superfamily
- zinc ion binding
- PHD finger superfamily
- histone demethylase activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- Siderius X-linked mental retardation syndrome
- mental retardation
- hereditary disorder
- rotator cuff injury
role in cell
- binding in
- expression in
- proliferation
- accumulation in
- number
- G1/S phase transition
- formation
- invasion by
- transactivation in
- formation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nucleoli
- nuclear envelope
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHF8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of chromatin silencing at rDNA
- chromatin remodeling
- protein demethylation
- positive regulation of transcription, DNA-dependent
- G1/S transition of mitotic cell cycle
- brain development
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of transcription from RNA polymerase I promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear membrane
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- histone demethylase activity (H4-K20 specific)
- methylated histone residue binding
- oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
- chromatin binding
- protein binding
- transcription cofactor activity
- iron ion binding
- histone demethylase activity (H3-K9 specific)
- histone demethylase activity
- histone demethylase activity (H3-K27 specific)
- histone demethylase activity (H3-K36 specific)