Gene
polr1a
- ID
- ZDB-GENE-030131-5286
- Name
- RNA polymerase I subunit A
- Symbol
- polr1a Nomenclature History
- Previous Names
-
- fa26a03
- sb:cb935
- wu:fa26a03
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable DNA binding activity and nucleotidyltransferase activity. Predicted to contribute to DNA-directed RNA polymerase activity. Acts upstream of or within embryonic viscerocranium morphogenesis; neural crest cell development; and rRNA transcription. Predicted to be located in chromosome and nucleolus. Predicted to be part of RNA polymerase I complex. Is expressed in several structures, including alar plate midbrain region; digestive system; nervous system; pectoral fin musculature; and segmental plate. Used to study acrofacial dysostosis Cincinnati type. Human ortholog(s) of this gene implicated in acrofacial dysostosis Cincinnati type and hypomyelinating leukodystrophy. Orthologous to human POLR1A (RNA polymerase I subunit A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb935 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
hi3639Tg | Transgenic insertion | 5' UTR | Unknown | DNA | |
la012505Tg | Transgenic insertion | Unknown | Unknown | DNA | |
sa1376 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa2745 | Allele with one point mutation | Donor Splice Site | Splice Site | ENU | |
sa12570 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa22458 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa22459 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa22460 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa45512 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
acrofacial dysostosis Cincinnati type | Alliance | Acrofacial dysostosis, Cincinnati type | 616462 |
Leukodystrophy, hypomyelinating, 27 | 620675 |
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Human Disease | Fish | Conditions | Citations |
---|---|---|---|
acrofacial dysostosis Cincinnati type | polr1ahi3639Tg/hi3639Tg | control | Watt et al., 2018 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | DNA-directed RNA pol I, largest subunit, C-terminal domain | DNA-directed RNA pol I, largest subunit, N-terminal domain | DNA-directed RNA polymerase, subunit beta-prime | RNA polymerase, alpha subunit | RNA polymerase, N-terminal | RNA polymerase Rpb1, clamp domain superfamily | RNA polymerase Rpb1, domain 1 | RNA polymerase Rpb1, domain 3 | RNA polymerase Rpb1, domain 3 superfamily | RNA polymerase Rpb1, domain 4 | RNA polymerase Rpb1, domain 5 | RNA polymerase Rpb1, funnel domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A0R4I9V4 | InterPro | 1693 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
polr1a-201
(1)
|
Ensembl | 5,286 nt | ||
mRNA |
polr1a-202
(1)
|
Ensembl | 7,583 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH73-87E17 | ZFIN Curated Data | |
Contained in | BAC | CH211-2M15 | ZFIN Curated Data | |
Encodes | EST | cb935 | ZFIN Curated Data | |
Encodes | EST | fa26a03 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_001922804 (1) | 5283 nt | ||
Genomic | GenBank:AL929267 (1) | 148174 nt | ||
Polypeptide | UniProtKB:A0A0R4I9V4 (1) | 1693 aa |
- White, R.J., Mackay, E., Wilson, S.W., Busch-Nentwich, E.M. (2022) Allele-specific gene expression can underlie altered transcript abundance in zebrafish mutants. eLIFE. 11:
- Watt, K.E.N., Neben, C.L., Hall, S., Merrill, A.E., Trainor, P.A. (2018) tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis - Cincinnati type. Human molecular genetics. 27(15):2628-2643
- Diotel, N., Viales, R.R., Armant, O., März, M., Ferg, M., Rastegar, S., Strähle, U. (2015) Comprehensive expression map of transcription regulators in the adult zebrafish telencephalon reveals distinct neurogenic niches. The Journal of comparative neurology. 523(8):1202-21
- Petit, D., Teppa, E., Mir, A., Vicogne, D., Thisse, C., Thisse, B., Filloux, C., Harduin-Lepers, A. (2015) Integrative view of α2,3-sialyltransferases (ST3Gal) molecular and functional evolution in deuterostomes: significance of lineage specific losses. Mol. Biol. Evol.. 32(4):906-27
- Weaver, K.N., Watt, K.E., Hufnagel, R.B., Navajas Acedo, J., Linscott, L.L., Sund, K.L., Bender, P.L., König, R., Lourenco, C.M., Hehr, U., Hopkin, R.J., Lohmann, D.R., Trainor, P.A., Wieczorek, D., Saal, H.M. (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. American journal of human genetics. 96(5):765-74
- Kettleborough, R.N., Busch-Nentwich, E.M., Harvey, S.A., Dooley, C.M., de Bruijn, E., van Eeden, F., Sealy, I., White, R.J., Herd, C., Nijman, I.J., Fényes, F., Mehroke, S., Scahill, C., Gibbons, R., Wali, N., Carruthers, S., Hall, A., Yen, J., Cuppen, E., and Stemple, D.L. (2013) A systematic genome-wide analysis of zebrafish protein-coding gene function. Nature. 496(7446):494-7
- 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
- Stuckenholz, C., Lu, L., Thakur, P., Kaminski, N., and Bahary, N. (2009) FACS-Assisted Microarray Profiling Implicates Novel Genes and Pathways in Zebrafish Gastrointestinal Tract Development. Gastroenterology. 137(4):1321-1332
- 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
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