Gene
polr1d
- ID
- ZDB-GENE-040930-4
- Name
- RNA polymerase I and III subunit D
- Symbol
- polr1d Nomenclature History
- Previous Names
-
- im:7162148
- zgc:136449 (1)
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable DNA binding activity and protein dimerization activity. Predicted to contribute to DNA-directed RNA polymerase activity. Acts upstream of or within cartilage development; embryonic viscerocranium morphogenesis; and ribosome biogenesis. Predicted to be located in nucleus. Predicted to be part of RNA polymerase I complex and RNA polymerase III complex. Is expressed in eye; lens; midbrain hindbrain boundary; optic tectum; and pharyngeal arch. Used to study Treacher Collins syndrome. Human ortholog(s) of this gene implicated in Treacher Collins syndrome 2. Orthologous to human POLR1D (RNA polymerase I and III subunit D).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7162148 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hi2393Tg | Transgenic insertion | Intron 1 | Unknown | DNA |
1 - 1 of 1
Show
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Treacher Collins syndrome 2 | Alliance | Treacher Collins syndrome 2 | 613717 |
1 - 1 of 1
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Treacher Collins syndrome | polr1dhi2393Tg/hi2393Tg | standard conditions | Noack Watt et al., 2016 |
1 - 1 of 1
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR008193 | DNA-directed RNA polymerase Rpb11, 13-16kDa subunit, conserved site |
| Domain | IPR009025 | DNA-directed RNA polymerase, RBP11-like dimerisation domain |
| Family | IPR022905 | DNA-directed RNA polymerase subunit Rpo11-like |
| Family | IPR033898 | DNA-directed RNA polymerases I and III subunit AC19 |
| Homologous_superfamily | IPR036603 | RNA polymerase, RBP11-like subunit |
1 - 5 of 5
Domain Details Per Protein
| Protein | Additional Resources | Length | DNA-directed RNA polymerase, RBP11-like dimerisation domain | DNA-directed RNA polymerase Rpb11, 13-16kDa subunit, conserved site | DNA-directed RNA polymerases I and III subunit AC19 | DNA-directed RNA polymerase subunit Rpo11-like | RNA polymerase, RBP11-like subunit |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q6DRI4 | InterPro | 112 | |||||
| UniProtKB:A0A8M2B3H3 | InterPro | 81 |
1 - 2 of 2
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
polr1d-201
(1)
|
Ensembl | 667 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-50O20 | ZFIN Curated Data | |
| Contained in | BAC | CH73-119D10 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7162148 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:136449 | ZFIN Curated Data |
1 - 4 of 4
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001003888 (1) | 661 nt | ||
| Genomic | GenBank:AL844570 (1) | 240816 nt | ||
| Polypeptide | UniProtKB:Q6DRI4 (1) | 112 aa |
- 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
- 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
- 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
1 - 5 of 5
Show