Gene
prpf4
- ID
- ZDB-GENE-030131-5143
- Name
- pre-mRNA splicing tri-snRNP complex factor PRPF4
- Symbol
- prpf4 Nomenclature History
- Previous Names
-
- mg:ab03a02
- zgc:65943
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable U4 snRNA binding activity and U6 snRNA binding activity. Acts upstream of or within chordate embryonic development; mRNA splicing, via spliceosome; and sensory system development. Predicted to be located in nuclear speck. Predicted to be part of U4/U6 x U5 tri-snRNP complex. Is expressed in brain; eye; head; posterior lateral line primordium; and spinal cord. Used to study retinitis pigmentosa. Human ortholog(s) of this gene implicated in retinitis pigmentosa 70. Orthologous to human PRPF4 (pre-mRNA splicing tri-snRNP complex factor PRPF4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:65943 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-prpf4 | Wang et al., 2018 | |
CRISPR2-prpf4 | Zhang et al., 2024 | |
MO1-prpf4 | N/A | (3) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
retinitis pigmentosa 70 | Alliance | Retinitis pigmentosa 70 | 615922 |
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Human Disease | Fish | Conditions | Citations |
---|---|---|---|
retinitis pigmentosa | WT + MO1-prpf4 | standard conditions | Linder et al., 2011 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR019775 | WD40 repeat, conserved site |
Domain | IPR014906 | Pre-mRNA processing factor 4 (PRP4)-like |
Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
Homologous_superfamily | IPR036285 | PRP4-like superfamily |
Homologous_superfamily | IPR036322 | WD40-repeat-containing domain superfamily |
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Domain Details Per Protein
Protein | Additional Resources | Length | G-protein beta WD-40 repeat | Pre-mRNA processing factor 4 (PRP4)-like | PRP4-like superfamily | WD40 repeat | WD40 repeat, conserved site | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q6PH45 | InterPro | 507 |
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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 | CH211-69I3 | ZFIN Curated Data | |
Contained in | BAC | CH211-202F5 | ZFIN Curated Data | |
Contains | SNP | rs3727904 | ZFIN Curated Data | |
Contains | SNP | rs3727905 | ZFIN Curated Data | |
Contains | SNP | rs3727906 | ZFIN Curated Data | |
Contains | SNP | rs3727907 | ZFIN Curated Data | |
Encodes | EST | ab03a02 | ||
Encodes | cDNA | MGC:65943 | ZFIN Curated Data | |
Encodes | cDNA | MGC:174498 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_199755 (1) | 1820 nt | ||
Genomic | GenBank:BX510338 (1) | 209337 nt | ||
Polypeptide | UniProtKB:Q6PH45 (1) | 507 aa |
- Zhang, Y., Liu, Y., Qin, W., Zheng, S., Xiao, J., Xia, X., Yuan, X., Zeng, J., Shi, Y., Zhang, Y., Ma, H., Varshney, G.K., Fei, J.F., Liu, Y. (2024) Cytosine base editors with increased PAM and deaminase motif flexibility for gene editing in zebrafish. Nature communications. 15:95269526
- Lee, Y.R., Khan, K., Armfield-Uhas, K., Srikanth, S., Thompson, N.A., Pardo, M., Yu, L., Norris, J.W., Peng, Y., Gripp, K.W., Aleck, K.A., Li, C., Spence, E., Choi, T.I., Kwon, S.J., Park, H.M., Yu, D., Do Heo, W., Mooney, M.R., Baig, S.M., Wentzensen, I.M., Telegrafi, A., McWalter, K., Moreland, T., Roadhouse, C., Ramsey, K., Lyons, M.J., Skinner, C., Alexov, E., Katsanis, N., Stevenson, R.E., Choudhary, J.S., Adams, D.J., Kim, C.H., Davis, E.E., Schwartz, C.E. (2020) Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nature communications. 11:3698
- Wang, Y., Han, Y., Xu, P., Ding, S., Li, G., Jin, H., Meng, Y., Meng, A., Jia, S. (2018) prpf4 is essential for cell survival and posterior lateral line primordium migration in zebrafish. Journal of genetics and genomics = Yi chuan xue bao. 45(8):443-453
- Chen, X., Liu, Y., Sheng, X., Tam, P.O., Zhao, K., Chen, X., Rong, W., Liu, Y., Liu, X., Pan, X., Chen, L.J., Zhao, Q., Vollrath, D., Pang, C.P., and Zhao, C. (2014) PRPF4 mutations cause autosomal dominant retinitis pigmentosa. Human molecular genetics. 23(11):2926-39
- Linder, B., Hirmer, A., Gal, A., Rüther, K., Bolz, H.J., Winkler, C., Laggerbauer, B., Fischer, U. (2014) Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa. PLoS One. 9:e111754
- Linder, B., Dill, H., Hirmer, A., Brocher, J., Lee, G.P., Mathavan, S., Bolz, H.J., Winkler, C., Laggerbauer, B., and Fischer, U. (2011) Systemic splicing factor deficiency causes tissue-specific defects: A zebrafish model for Retinitis pigmentosa. Human molecular genetics. 20(2):368-377
- Tallafuss, A., Hale, L.A., Yan, Y.L., Dudley, L., Eisen, J.S., and Postlethwait, J.H. (2006) Characterization of retinoid-X receptor genes rxra, rxrba, rxrbb and rxrg during zebrafish development. Gene expression patterns : GEP. 6(5):556-565
- Woods, I.G., Wilson, C., Friedlander, B., Chang, P., Reyes, D.K., Nix, R., Kelly, P.D., Chu, F., Postlethwait, J.H., and Talbot, W.S. (2005) The zebrafish gene map defines ancestral vertebrate chromosomes. Genome research. 15(9):1307-1314
- 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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