PHF1 Gene Summary [Human]
This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Details
| Type | Protein Coding |
| Official Symbol | PHF1 |
| Official Name | PHD finger protein 1 [Source:HGNC Symbol;Acc:HGNC:8919] |
| Ensembl ID | ENSG00000112511 |
| Bio databases IDs | |
| Aliases | PHD finger protein 1, tudor domain containing 19C, polycomb-like 1 |
| Synonyms | D17Ertd455e, hPHF1, MTF2L2, PCL1, PHD finger protein 1, PHF2, TCTEX3, TDRD19C |
| 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 PHF1 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
- histone binding
- transcription regulator
- protein binding activity, bridging
- enzyme binding
- chromatin binding
- PHD finger superfamily
- transcription factor binding
- protein binding
- identical protein binding
- Tudor domain superfamily
- Jumonji domain-containing protein 2A Tudor domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- breast cancer
- atopic dermatitis
- endometrial stromal sarcoma
- endometrial sarcoma cancer
role in cell
- expression in
- growth
- apoptosis
- degradation in
- stabilization in
- binding in
- trimethylation in
- turnover 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
- centrosome
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of gene expression, epigenetic
Cellular Component
Where in the cell the gene product is active
- nucleus
- centrosome
- site of double-strand break
- ESC/E(Z) complex
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- transcription corepressor binding
- DNA binding
- identical protein binding
- protein binding
- metal ion binding
- methylated histone residue binding
- chromatin binding