Gene
polr1b
- ID
- ZDB-GENE-040426-1598
- Name
- RNA polymerase I subunit B
- Symbol
- polr1b Nomenclature History
- Previous Names
-
- wu:fc91a05
- zgc:66298 (1)
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Enables RNA polymerase I activity. Involved in neural crest cell migration. Predicted to be located in nucleus. Predicted to be part of RNA polymerase I complex. Is expressed in several structures, including alar plate midbrain region; eye; liver; musculature system; and optic tectum. Used to study Treacher Collins syndrome. Human ortholog(s) of this gene implicated in Treacher Collins syndrome 4. Orthologous to human POLR1B (RNA polymerase I subunit B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:113960 (16 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Sanchez et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa42280 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Treacher Collins syndrome 4 | Alliance | Treacher-Collins syndrome 4 | 618939 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Treacher Collins syndrome | AB + MO1-polr1b | standard conditions | Sanchez et al., 2019 |
| Treacher Collins syndrome | hu5910Tg + MO1-polr1b | standard conditions | Sanchez et al., 2019 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR007121 | RNA polymerase, beta subunit, conserved site |
| Domain | IPR007120 | DNA-directed RNA polymerase, subunit 2, hybrid-binding domain |
| Domain | IPR007641 | RNA polymerase Rpb2, domain 7 |
| Domain | IPR007642 | RNA polymerase Rpb2, domain 2 |
| Domain | IPR007644 | RNA polymerase, beta subunit, protrusion |
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Domain Details Per Protein
| Protein | Additional Resources | Length | DNA-directed RNA polymerase I subunit RPA2, domain 4 | DNA-directed RNA polymerase, subunit 2 | DNA-directed RNA polymerase, subunit 2, hybrid-binding domain | DNA-directed RNA polymerase, subunit 2, hybrid-binding domain superfamily | RNA polymerase, beta subunit, conserved site | RNA polymerase, beta subunit, protrusion | RNA polymerase Rpb2, domain 2 | RNA polymerase Rpb2, domain 2 superfamily | RNA polymerase Rpb2, domain 3 | RNA polymerase Rpb2, domain 7 | RNA polymerase Rpb2, OB-fold |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q4V967 | InterPro | 1132 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
polr1b-201
(1)
|
Ensembl | 3,529 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 | DKEY-18N13 | ZFIN Curated Data | |
| Encodes | EST | fc91a05 | ||
| Encodes | cDNA | MGC:66298 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:113960 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:158198 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192771 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_200518 (1) | 3527 nt | ||
| Genomic | GenBank:CT583720 (1) | 215665 nt | ||
| Polypeptide | UniProtKB:Q4V967 (1) | 1132 aa |
- Sanchez, E., Laplace-Builhé, B., Mau-Them, F.T., Richard, E., Goldenberg, A., Toler, T.L., Guignard, T., Gatinois, V., Vincent, M., Blanchet, C., Boland, A., Bihoreau, M.T., Deleuze, J.F., Olaso, R., Nephi, W., Lüdecke, H.J., Verheij, J.B.G.M., Moreau-Lenoir, F., Denoyelle, F., Rivière, J.B., Laplanche, J.L., Willing, M., Captier, G., Apparailly, F., Wieczorek, D., Collet, C., Djouad, F., Geneviève, D. (2019) POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genetics in medicine : official journal of the American College of Medical Genetics. 22(3):547-556
- Recher, G., Jouralet, J., Brombin, A., Heuzé, A., Mugniery, E., Hermel, J.M., Desnoulez, S., Savy, T., Herbomel, P., Bourrat, F., Peyriéras, N., Jamen, F., and Joly, J.S. (2013) Zebrafish midbrain slow-amplifying progenitors exhibit high levels of transcripts for nucleotide and ribosome biogenesis. Development (Cambridge, England). 140(24):4860-9
- 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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