PHC1 Gene Summary [Human]
This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PHC1 |
| Official Name | polyhomeotic homolog 1 [Source:HGNC Symbol;Acc:HGNC:3182] |
| Ensembl ID | ENSG00000111752 |
| Bio databases IDs | |
| Aliases | polyhomeotic homolog 1 |
| Synonyms | Edr, EDR1, HPH1, MCPH11, MPH, Mph1, PH1, polyhomeotic 1, polyhomeotic homolog 1, RAE28 |
| 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 PHC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SPM domain
- Sterile alpha motif
- transcription regulator
- Unstructured region on Polyhomeotic-like protein 1 and 2
- SAM (Sterile alpha motif )
- SAM domain (Sterile alpha motif)
- chromatin binding
- protein binding
- protein transduction domain
Pathways
Biological processes and signaling networks where the PHC1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- nephrosis
- autosomal recessive primary microcephaly 11
- cleft palate syndrome
- stenosis
- collagen-induced arthritis
- hypoplasia
- cleft hard palate
- idiopathic scoliosis
- overriding aorta
- ventricular septal defect
role in cell
- proliferation
- quantity
- activation
- assembly
- development
- signaling in
- killing
- maturation
- differentiation
- abnormal morphology
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
- perichromatin region
- interchromatin space
- nucleoplasm
- nuclear bodies
- sex chromatin
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- negative regulation of transcription, DNA-dependent
- cellular response to retinoic acid
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- PRC1 complex
- PcG protein complex
- sex chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- zinc ion binding
- protein binding
- histone binding
- chromatin binding