POLR3B Gene Summary [Human]
This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | POLR3B |
| Official Name | RNA polymerase III subunit B [Source:HGNC Symbol;Acc:HGNC:30348] |
| Ensembl ID | ENSG00000013503 |
| Bio databases IDs | |
| Aliases | RNA polymerase III subunit B |
| Synonyms | 2700078H01RIK, A330032P03RIK, C128, C85372, CMT1I, HLD8, INMAP, polymerase (RNA) III (DNA directed) polypeptide B, RGD1565311, RNA polymerase III subunit B, RPC2 |
| 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 POLR3B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ricin-type beta-trefoil lectin domain
- DNA-directed RNA polymerase
- nucleic acid binding
- RNA_pol_B_RPB2
- enzyme
- RNA polymerase beta subunit
- RNA polymerase Rpb2, domain 4
- RNA polymerase Rpb2, domain 5
- RNA polymerase Rpb2, domain 6
- zinc ion binding
- RNA polymerase Rpb2, domain 3
- RNA polymerase Rpb2, domain 2
- DNA-directed RNA polymerase subunit B
- RNA polymerase Rpb2, domain 7
- DNA-directed RNA polymerase, beta subunit
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- preeclampsia
- hereditary disorder
- hypomyelinating leukodystrophy type 8
- hypomyelinating leukodystrophy type 8 without hypodontia and with hypogonadotropic hypogonadism
- hypomyelinating leukodystrophy type 8 with hypodontia and hypogonadotropic hypogonadism
- demyelinating Charcot-Marie-Tooth disease type 1I
- hypomyelinating leukodystrophy type 8 without hypodontia or hypogonadotropic hypogonadism
- central nervous system cancer
- POLR3-related leukodystrophy
- glioblastoma
regulates
- IFN beta
role in cell
- survival
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
- Cytoplasm
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POLR3B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of innate immune response
- positive regulation of interferon-beta production
- innate immune response
- defense response to virus
- snRNA transcription from RNA polymerase III promoter
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
- DNA-directed RNA polymerase III complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- RNA polymerase III activity
- zinc ion binding
- DNA-directed RNA polymerase activity
- ribonucleoside binding
- DNA/RNA hybrid binding