Gene
ctns
- ID
- ZDB-GENE-050522-352
- Name
- cystinosin, lysosomal cystine transporter
- Symbol
- ctns Nomenclature History
- Previous Names
-
- zgc:110194
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable L-cystine transmembrane transporter activity. Acts upstream of or within glomerular filtration; regulation of autophagy; and renal absorption. Predicted to be located in membrane. Predicted to be active in lysosomal membrane. Used to study cystinosis. Human ortholog(s) of this gene implicated in cystinosis. Orthologous to human CTNS (cystinosin, lysosomal cystine transporter).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110194 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 27 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la017981Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa1921 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa4403 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa14661 | Allele with one point mutation | Exon 8 | Premature Stop | ENU | |
| sa21844 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| zh601 | Allele with one deletion | Unknown | Unknown | TALEN |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cystinosis | Alliance | Cystinosis, atypical nephropathic | 219800 |
| cystinosis | Alliance | Cystinosis, late-onset juvenile or adolescent nephropathic | 219900 |
| cystinosis | Alliance | Cystinosis, nephropathic | 219800 |
| cystinosis | Alliance | Cystinosis, ocular nonnephropathic | 219750 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Lysosomal cystine transporter | PQ-loop repeat |
|---|---|---|---|
|
UniProtKB:Q503T0
|
384 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(slc20a1a:ctns-EGFP,myl7:EGFP) |
|
| 1 | Chen et al., 2019 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-224J12 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:110194 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001020571 (1) | 1564 nt | ||
| Genomic | GenBank:AL840638 (1) | 177617 nt | ||
| Polypeptide | UniProtKB:Q503T0 (1) | 384 aa |
- Bondue, T., Khodaparast, L., Khodaparast, L., Cairoli, S., Goffredo, B.M., Gijsbers, R., van den Heuvel, L., Levtchenko, E. (2024) MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis. American journal of physiology. Renal physiology. 326(6):F981-F987
- Bondue, T., Berlingerio, S.P., Siegerist, F., Sendino-Garví, E., Schindler, M., Baelde, H.J., Cairoli, S., Goffredo, B.M., Arcolino, F.O., Dieker, J., Janssen, M.J., Endlich, N., Brock, R., Gijsbers, R., van den Heuvel, L., Levtchenko, E. (2023) Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis. Scientific Reports. 13:2096120961
- Berlingerio, S.P., He, J., De Groef, L., Taeter, H., Norton, T., Baatsen, P., Cairoli, S., Goffredo, B., de Witte, P., van den Heuvel, L., Baelde, H.J., Levtchenko, E. (2021) Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis. International Journal of Molecular Sciences. 22(17):
- Jamalpoor, A., van Gelder, C.A., Yousef Yengej, F.A., Zaal, E.A., Berlingerio, S.P., Veys, K.R., Pou Casellas, C., Voskuil, K., Essa, K., Ammerlaan, C.M., Rega, L.R., van der Welle, R.E., Lilien, M.R., Rookmaaker, M.B., Clevers, H., Klumperman, J., Levtchenko, E., Berkers, C.R., Verhaar, M.C., Altelaar, M., Masereeuw, R., Janssen, M.J. (2021) Cysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis. EMBO Molecular Medicine. 13(7):e13067
- Taranta, A., Elmonem, M.A., Bellomo, F., De Leo, E., Boenzi, S., Janssen, M.J., Jamalpoor, A., Cairoli, S., Pastore, A., De Stefanis, C., Colucci, M., Rega, L.R., Giovannoni, I., Francalanci, P., van den Heuvel, L.P., Dionisi-Vici, C., Goffredo, B.M., Masereeuw, R., Levtchenko, E., Emma, F. (2021) Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis. Cells. 10(12):
- De Leo, E., Elmonem, M.A., Berlingerio, S.P., Berquez, M., Festa, B.P., Raso, R., Bellomo, F., Starborg, T., Janssen, M.J., Abbaszadeh, Z., Cairoli, S., Goffredo, B.M., Masereeuw, R., Devuyst, O., Lowe, M., Levtchenko, E., Luciani, A., Emma, F., Rega, L.R. (2020) Cell-Based Phenotypic Drug Screening Identifies Luteolin as Candidate Therapeutic for Nephropathic Cystinosis. Journal of the American Society of Nephrology : JASN. 31(7):1522-1537
- Chen, Z., Luciani, A., Mateos, J.M., Barmettler, G., Giles, R.H., Neuhauss, S.C.F., Devuyst, O. (2019) Transgenic zebrafish modeling low-molecular-weight proteinuria and lysosomal storage diseases. Kidney International. 97(6):1150-1163
- Festa, B.P., Chen, Z., Berquez, M., Debaix, H., Tokonami, N., Prange, J.A., Hoek, G.V., Alessio, C., Raimondi, A., Nevo, N., Giles, R.H., Devuyst, O., Luciani, A. (2018) Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney. Nature communications. 9:161
- Elmonem, M.A., Khalil, R., Khodaparast, L., Khodaparast, L., Arcolino, F.O., Morgan, J., Pastore, A., Tylzanowski, P., Ny, A., Lowe, M., de Witte, P.A., Baelde, H.J., van den Heuvel, L.P., Levtchenko, E. (2017) Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction. Scientific Reports. 7:42583
- 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
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