POLR1C Gene Summary [Human]
The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | POLR1C |
| Official Name | RNA polymerase I and III subunit C [Source:HGNC Symbol;Acc:HGNC:20194] |
| Ensembl ID | ENSG00000171453 |
| Bio databases IDs | |
| Aliases | RNA polymerase I and III subunit C |
| Synonyms | Ac2-127, AC40, AL024089, HLD11, Polr1e, polymerase (RNA) I polypeptide C, RNA polymerase I and III subunit C, RPA39, RPA40, RPA5, RPAC1, RPC40, RPO1-1, TCS3 |
| 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 POLR1C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerases D
- DNA-directed RNA polymerase
- RNA polymerase Rpb3/Rpb11 dimerization domain
- enzyme
- protein binding
- RNA polymerase Rpb3/RpoA insert domain
- RPB11 and RPB3 subunits of RNA polymerase
Pathways
Biological processes and signaling networks where the POLR1C 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
- hereditary disorder
- hypomyelinating leukodystrophy type 11
- Treacher Collins syndrome type 3
- Treacher Collins-Franceschetti syndrome
- colorectal adenoma
- colorectal adenoma formation
- complete testicular feminization syndrome
role in cell
- apoptosis
- binding 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
- fibrillar center
- Cytoplasm
- cytosol
- nuclear foci
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POLR1C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transcription from RNA polymerase III promoter
- transcription from RNA polymerase I promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- DNA-directed RNA polymerase I complex
- cytoplasm
- cytosol
- fibrillar center
- DNA-directed RNA polymerase III complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- RNA polymerase III activity
- protein binding
- RNA polymerase I activity
- DNA-directed RNA polymerase activity
- protein dimerization activity