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 enable DNA binding activity and protein dimerization activity. Predicted to contribute to DNA-directed 5'-3' RNA polymerase activity. Acts upstream of or within cartilage development; embryonic viscerocranium morphogenesis; and ribosome biogenesis. Predicted to be located in nucleoplasm. Predicted to be part of RNA polymerase I complex and RNA polymerase III complex. Is expressed in several structures, including head; immature eye; midbrain; midbrain hindbrain boundary; and segmental plate. Used to study Treacher Collins syndrome. Human ortholog(s) of this gene implicated in Treacher Collins syndrome 3 and hypomyelinating leukodystrophy 11. 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hi1124Tg | Transgenic insertion | Exon 2 | Unknown | DNA | |
| hi1883Tg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| la012339Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa22319 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa31932 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-polr1c | N/A | (2) |
| MO2-polr1c | N/A | Kwong et al., 2017 |
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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 | Additional Resources | 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 | InterPro | 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
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-67N3 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:6908483 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:65973 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_200566 (1) | 1332 nt | ||
| Genomic | GenBank:AL928951 (1) | 183050 nt | ||
| Polypeptide | UniProtKB:Q6PHE7 (1) | 347 aa |
- Ulhaq, Z.S., You, M.S., Jiang, Y.J., Tse, W.K.F. (2024) p53 inhibitor or antioxidants reduce the severity of ethmoid plate deformities in zebrafish Type 3 Treacher Collins syndrome model. International journal of biological macromolecules. 266(Pt 2):131216
- Calo, E., Gu, B., Bowen, M.E., Aryan, F., Zalc, A., Liang, J., Flynn, R.A., Swigut, T., Chang, H.Y., Attardi, L.D., Wysocka, J. (2018) Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders. Nature. 554:112-117
- Kwong, E.M.L., Ho, J.C.H., Lau, M.C.C., You, M.S., Jiang, Y.J., Tse, W.K.F. (2017) Restoration of polr1c in early embryogenesis rescues the Type 3 Treacher Collins Syndrome facial malformation phenotype in zebrafish. The American journal of pathology. 188(2):336-342
- Lau, M.C., Kwong, E.M., Lai, K.P., Li, J.W., Ho, J.C., Chan, T.F., Wong, C.K., Jiang, Y.J., Tse, W.K. (2016) Pathogenesis of POLR1C-dependent type 3 treacher Collins syndrome revealed by a zebrafish model. Biochimica et biophysica acta. Molecular basis of disease. 1862(6):1147-58
- Noack Watt, K.E., Achilleos, A., Neben, C.L., Merrill, A.E., Trainor, P.A. (2016) The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome. PLoS Genetics. 12:e1006187
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Amsterdam, A., Nissen, R.M., Sun, Z., Swindell, E., Farrington, S., and Hopkins, N. (2004) Identification of 315 genes essential for early zebrafish development. Proceedings of the National Academy of Sciences of the United States of America. 101(35):12792-12797
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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