POLR1D
POLR1D Gene Summary
The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
Details
| Type | Processed Transcript |
| Official Symbol | POLR1D |
| Official Name | RNA polymerase I and III subunit D [Source:HGNC Symbol;Acc:HGNC:20422] |
| Ensembl ID | ENSG00000186184 |
| Bio databases IDs | |
| Aliases | RNA polymerase I and III subunit D |
| Synonyms | 1110003G10RIK,AC19,MGC9850,POLR1C,polymerase (RNA) I polypeptide D,RNA Polymerase I, 16kDa,RNA polymerase I and III subunit D,RPA16,RPA19,RPA9,RPAC2,RPC16,RPO1-3,TCS2 |
| Species | Human, Homo sapiens |
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 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 Rpb3/Rpb11 dimerization domain
- enzyme
- protein binding
- RPB11 and RPB3 subunits of RNA polymerase
Pathways
Biological processes and signaling networks where the POLR1D gene 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.
binds
- MAPRE2
- POLR2C
- MED4
- POLR3E
- CRCP
- CEBPA
- CASP6
- POLR1B
- POLR1C
- ZRANB1
disease
- non-insulin-dependent diabetes mellitus
- diffuse large B-cell lymphoma
- acute myeloid leukemia
- Treacher Collins-Franceschetti syndrome
- Treacher Collins syndrome type 2
- autosomal recessive Treacher Collins syndrome type 2
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
regulated by
- FLI1
- TCF7L2
- ERBB2
- SIRT1 inhibitor III
- atamparib
- STK11
- hexamethylene bisacetamide
- 9HTEo- cells
regulates
- DDX21
role in cell
- cell viability
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
- cytosol
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the POLR1D 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 elongation from RNA polymerase I promoter
CELLULAR COMPONENT
Where in the cell the gene product is active
- DNA-directed RNA polymerase I complex
- cytosol
- DNA-directed RNA polymerase III complex
- nucleoplasm
MOLECULAR FUNCTION
What the gene product does at the molecular level
- RNA polymerase III activity
- DNA binding
- protein binding
- RNA polymerase I activity
- protein dimerization activity