Gene
prpf31
- ID
- ZDB-GENE-040426-1561
- Name
- PRP31 pre-mRNA processing factor 31 homolog (yeast)
- Symbol
- prpf31 Nomenclature History
- Previous Names
-
- zgc:66177 (1)
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable U4atac snRNA binding activity. Acts upstream of or within mRNA splicing, via spliceosome; regulation of alternative mRNA splicing, via spliceosome; and retina development in camera-type eye. Predicted to be located in nucleus. Predicted to be part of nucleus. Is expressed in brain; head; retina; and retinal neural layer. Used to study retinitis pigmentosa. Human ortholog(s) of this gene implicated in retinitis pigmentosa 11. Orthologous to human PRPF31 (pre-mRNA processing factor 31).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66177 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hzu12 | Allele with one delins | Unknown | Unknown | CRISPR | |
| sa2865 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa5624 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22886 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa25022 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| retinitis pigmentosa 11 | Alliance | Retinitis pigmentosa 11 | 600138 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| retinitis pigmentosa | WT + MO1-prpf31 | standard conditions | (2) |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Nop, C-terminal domain | Nop domain | Nop domain superfamily | NOSIC | Prp31 C-terminal | U4/U6 small nuclear ribonucleoprotein Prp31 |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q7SXM7 | InterPro | 508 | ||||||
| UniProtKB:B2GS36 | InterPro | 508 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
prpf31-201
(1)
|
Ensembl | 1,867 nt | ||
| mRNA |
prpf31-202
(1)
|
Ensembl | 908 nt | ||
| mRNA |
prpf31-203
(1)
|
Ensembl | 1,542 nt |
Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(rho:1prpf31-mCherry) |
|
| 1 | (3) | |
| Tg(rho:prpf31-mCherry) |
|
| 1 | (3) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-40M6 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:66177 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192452 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_200504 (1) | 1909 nt | ||
| Genomic | GenBank:CR854927 (1) | 217399 nt | ||
| Polypeptide | UniProtKB:B2GS36 (1) | 508 aa |
- Lv, Y., Li, J., Yu, S., Zhang, Y., Hu, H., Sun, K., Jia, D., Han, Y., Tu, J., Huang, Y., Liu, X., Zhang, X., Gao, P., Chen, X., Shaw Williams, M.T., Tang, Z., Shu, X., Liu, M., Ren, X. (2024) The splicing factor Prpf31 is required for hematopoietic stem and progenitor cell expansion during zebrafish embryogenesis. The Journal of biological chemistry. 300(3):105772
- Ulhaq, Z.S., Okamoto, K., Ogino, Y., Fai Tse, W.K. (2023) Dysregulation of spliceosomes complex induces retinitis pigmentosa-like characteristics in sf3b4-depleted zebrafish. The American journal of pathology. 193(9):1223-1233
- Horzmann, K.A., Lin, L.F., Taslakjian, B., Yuan, C., Freeman, J.L. (2022) Anxiety-related behavior and associated brain transcriptome and epigenome alterations in adult female zebrafish exposed to atrazine during embryogenesis. Chemosphere. 308(Pt 3):136431
- Li, J., Liu, F., Lv, Y., Sun, K., Zhao, Y., Reilly, J., Zhang, Y., Tu, J., Yu, S., Liu, X., Qin, Y., Huang, Y., Gao, P., Jia, D., Chen, X., Han, Y., Shu, X., Luo, D., Tang, Z., Liu, M. (2021) Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing. Nucleic acids research. 49(4):2027-2043
- Henson, H.E., Taylor, M.R. (2020) A sart1 Zebrafish Mutant Results in Developmental Defects in the Central Nervous System. Cells. 9(11):
- 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
- 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
- Liu, Y., Chen, X., Qin, B., Zhao, K., Zhao, Q., Staley, J.P., Zhao, C. (2015) Knocking Down Snrnp200 Initiates Demorphogenesis of Rod Photoreceptors in Zebrafish. Journal of ophthalmology. 2015:816329
- 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., 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
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