Gene
polr1c
- ID
- ZDB-GENE-040426-1495
- Name
- RNA polymerase I and III subunit C
- Symbol
- polr1c Nomenclature History
- Previous Names
-
- zgc:65973
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to contribute to RNA polymerase I activity and RNA polymerase III activity. Involved in cartilage development; embryonic viscerocranium morphogenesis; and ribosome biogenesis. Predicted to localize to RNA polymerase I complex and RNA polymerase III complex. Used to study Treacher Collins syndrome. Human ortholog(s) of this gene implicated in Treacher Collins syndrome and hypomyelinating leukodystrophy 11. Is expressed in several structures, including head; immature eye; midbrain; midbrain hindbrain boundary; and segmental plate. Orthologous to human POLR1C (RNA polymerase I and III subunit C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6908483 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hypomyelinating leukodystrophy 11 | Alliance | Leukodystrophy, hypomyelinating, 11 | 616494 |
| Treacher Collins syndrome 3 | Alliance | Treacher Collins syndrome 3 | 248390 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR001514 | DNA-directed RNA polymerase, 30-40kDa subunit, conserved site |
| Domain | IPR011262 | DNA-directed RNA polymerase, insert domain |
| Domain | IPR011263 | DNA-directed RNA polymerase, RpoA/D/Rpb3-type |
| Family | IPR022842 | DNA-directed RNA polymerase subunit Rpo3/Rpb3/RPAC1 |
| Family | IPR033901 | DNA-directed RNA polymerases I and III subunit AC40 |
| Family | IPR050518 | Archaeal Rpo3/Eukaryotic RPB3 RNA Polymerase Subunit |
| Homologous_superfamily | IPR036603 | RNA polymerase, RBP11-like subunit |
| Homologous_superfamily | IPR036643 | DNA-directed RNA polymerase, insert domain superfamily |
Domain Details Per Protein
| Protein | Length | Archaeal Rpo3/Eukaryotic RPB3 RNA Polymerase Subunit | DNA-directed RNA polymerase, 30-40kDa subunit, conserved site | DNA-directed RNA polymerase, insert domain | DNA-directed RNA polymerase, insert domain superfamily | DNA-directed RNA polymerase, RpoA/D/Rpb3-type | DNA-directed RNA polymerases I and III subunit AC40 | DNA-directed RNA polymerase subunit Rpo3/Rpb3/RPAC1 | RNA polymerase, RBP11-like subunit |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q6PHE7
|
347 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
polr1c-201
(1)
|
Ensembl | 1,323 nt | ||
| mRNA |
polr1c-202
(1)
|
Ensembl | 843 nt |
Interactions and Pathways
No data available
Plasmids
No data available