Gene
lrpprc
- ID
- ZDB-GENE-030131-7887
- Name
- leucine-rich pentatricopeptide repeat containing
- Symbol
- lrpprc Nomenclature History
- Previous Names
-
- fc13c04
- im:7150924
- im:7151572
- wu:fc13c04
- wu:fj38h02
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable mRNA 3'-UTR binding activity. Predicted to be involved in regulation of mitochondrial translation. Predicted to be active in mitochondrion and nucleus. Is expressed in several structures, including alar plate midbrain region; digestive system; musculature system; nervous system; and segmental plate. Human ortholog(s) of this gene implicated in French Canadian Leigh disease and Leigh disease. Orthologous to human LRPPRC (leucine rich pentatricopeptide repeat containing).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7151572 (9 images)
- IMAGE:7150924 (8 images)
- IMAGE:7165989 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la018371Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| mn0235Gt | Transgenic insertion | Unknown | Frameshift | DNA | |
| sa12060 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17469 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22236 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa22237 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35428 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa42148 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-lrpprc | Ata et al., 2018 | |
| CRISPR2-lrpprc | Ata et al., 2018 | |
| CRISPR3-lrpprc | Ata et al., 2018 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| French Canadian Leigh disease | Alliance | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) | 220111 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Leucine-rich PPR motif-containing protein | Pentatricopeptide repeat | PROP1-like, PPR domain | Tetratricopeptide-like helical domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:A4QNU0 | InterPro | 960 | ||||
| UniProtKB:A0A8N1TT16 | InterPro | 1436 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
lrpprc-201
(1)
|
Ensembl | 4,829 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-55H24 | ZFIN Curated Data | |
| Contained in | BAC | CH211-227C6 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-47M24 | ZFIN Curated Data | |
| Encodes | EST | fc13c04 | ||
| Encodes | EST | fj38h02 | ||
| Encodes | EST | IMAGE:7150924 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7151572 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7165989 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001142592 (1) | 4773 nt | ||
| Genomic | GenBank:AL928999 (2) | 169570 nt | ||
| Polypeptide | UniProtKB:A0A8N1TT16 (1) | 1436 aa |
- Baker, C.E., Marta, A.G., Zimmerman, N.D., Korade, Z., Mathy, N.W., Wilton, D., Simeone, T., Kochvar, A., Kramer, K.L., Stessman, H.A.F., Shibata, A. (2024) CPT2 Deficiency Modeled in Zebrafish: Abnormal Neural Development, Electrical Activity, Behavior, and Schizophrenia-Related Gene Expression. Biomolecules. 14(8):
- Ding, Y., Lang, D., Yan, J., Bu, H., Li, H., Jiao, K., Yang, J., Ni, H., Morotti, S., Le, T., Clark, K.J., Port, J., Ekker, S.C., Cao, H., Zhang, Y., Wang, J., Grandi, E., Li, Z., Shi, Y., Li, Y., Glukhov, A.V., Xu, X. (2022) A phenotype-based forward genetic screen identifies Dnajb6 as a sick sinus syndrome gene. eLIFE. 11:
- Sabharwal, A., Campbell, J.M., Schwab, T.L., WareJoncas, Z., Wishman, M.D., Ata, H., Liu, W., Ichino, N., Hunter, D.E., Bergren, J.D., Urban, M.D., Urban, R.M., Holmberg, S.R., Kar, B., Cook, A., Ding, Y., Xu, X., Clark, K.J., Ekker, S.C. (2022) A Primer Genetic Toolkit for Exploring Mitochondrial Biology and Disease Using Zebrafish. Genes. 13(8):
- Sabharwal, A., Wishman, M.D., Cervera, R.L., Serres, M.R., Anderson, J.L., Holmberg, S.R., Kar, B., Treichel, A.J., Ichino, N., Liu, W., Yang, J., Ding, Y., Deng, Y., Lacey, J.M., Laxen, W.J., Loken, P.R., Oglesbee, D., Farber, S.A., Clark, K.J., Xu, X., Ekker, S.C. (2022) Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality. eLIFE. 11:
- Ellingsen, S., Narawane, S., Fjose, A., Verri, T., Rønnestad, I. (2021) The zebrafish cationic amino acid transporter/glycoprotein-associated family: sequence and spatiotemporal distribution during development of the transport system b0,+ (slc3a1/slc7a9). Fish physiology and biochemistry. 47(5):1507-1525
- Ichino, N., Serres, M.R., Urban, R.M., Urban, M.D., Treichel, A.J., Schaefbauer, K.J., Greif, L.E., Varshney, G.K., Skuster, K.J., McNulty, M.S., Daby, C.L., Wang, Y., Liao, H.K., El-Rass, S., Ding, Y., Liu, W., Anderson, J.L., Wishman, M.D., Sabharwal, A., Schimmenti, L.A., Sivasubbu, S., Balciunas, D., Hammerschmidt, M., Farber, S.A., Wen, X.Y., Xu, X., McGrail, M., Essner, J.J., Burgess, S.M., Clark, K.J., Ekker, S.C. (2020) Building the vertebrate codex using the gene breaking protein trap library. eLIFE. 9:
- Ata, H., Ekstrom, T.L., Martínez-Gálvez, G., Mann, C.M., Dvornikov, A.V., Schaefbauer, K.J., Ma, A.C., Dobbs, D., Clark, K.J., Ekker, S.C. (2018) Robust Activation of Microhomology-mediated End Joining for Precision Gene Editing Applications. PLoS Genetics. 14:e1007652
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Ding, Y., Long, P.A., Bos, J.M., Shih, Y.H., Ma, X., Sundsbak, R.S., Chen, J., Jiang, Y., Zhao, L., Hu, X., Wang, J., Shi, Y., Ackerman, M.J., Lin, X., Ekker, S.C., Redfield, M.M., Olson, T.M., Xu, X. (2016) A modifier screen identifies DNAJB6 as a cardiomyopathy susceptibility gene.. JCI insight. 1(14)
- Garcia-Reyero, N., Escalon, L., Prats, E., Faria, M., Soares, A.M., Raldúa, D. (2016) Targeted Gene Expression in Zebrafish Exposed to Chlorpyrifos-Oxon Confirms Phenotype-Specific Mechanisms Leading to Adverse Outcomes. Bulletin of environmental contamination and toxicology. 96(6):707-713
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