POLR1A Gene Summary [Human]
The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]
Details
| Type | Protein Coding |
| Official Symbol | POLR1A |
| Official Name | RNA polymerase I subunit A [Source:HGNC Symbol;Acc:HGNC:17264] |
| Ensembl ID | ENSG00000068654 |
| Bio databases IDs | |
| Aliases | RNA polymerase I subunit A |
| Synonyms | 2900087K15Rik, 3010014K16RIK, A190, AFDCIN, HLD27, LOC105242680, LOC90784, mRPA1, polymerase (RNA) I polypeptide A, RNA polymerase I subunit A, RPA1, RPA190, RPA194, RPO1-4 |
| 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 POLR1A 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 polymerase Rpb1, domain 1
- Largest subunit of RNA polymerase (RNAP), C-terminal domain
- RNA polymerase Rpb1, domain 3
- DNA-directed RNA polymerase
- nucleic acid binding
- RNA polymerase Rpb1, domain 4
- chromatin binding
- enzyme
- protein binding
- magnesium ion binding
- RNA polymerase Rpb1, domain 5
- zinc ion binding
- RNA polymerase Rpb1, domain 2
- Largest subunit of RNA polymerase (RNAP), N-terminal domain
- RNA polymerase I subunit A N-terminus
- DNA-directed RNA polymerase, subunit A''
Pathways
Biological processes and signaling networks where the POLR1A 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
- hypomyelinating leukodystrophy type 27
- Cincinnati type acrofacial dysostosis
role in cell
- apoptosis
- degradation in
- cell viability
- binding in
- stabilization in
- processing 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
- chromosome
- nucleoplasm
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POLR1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transcription from RNA polymerase I promoter
Cellular Component
Where in the cell the gene product is active
- DNA-directed RNA polymerase I complex
- chromosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- DNA binding
- zinc ion binding
- RNA polymerase I activity
- DNA-directed RNA polymerase activity
- protein binding
- DNA/RNA hybrid binding
- chromatin binding