This family has 10 members: 1 Arabidopsis thaliana, 1 Caenorhabditis elegans, 1 Danio rerio, 1 Dictyostelium discoideum, 1 Drosophila melanogaster, 1 Gallus gallus, 1 Homo sapiens, 1 Mus musculus, 1 Rattus norvegicus, 1 Saccharomyces cerevisiae.
| Protein | Publication | Curator Notes | |
|---|
| UniProtKB:P17261 · SGD:S000000671 |  15885099 Gao XD, et al. ERS1 encodes a functional homologue of the human lysosomal cystine transporter. FEBS J. 2005 May;272(10):2497-511. | The H. sapiens protein O60931 complements a homologous mutation in S. cerevisiae. |
| OMIM (3) |
|---|
| UniProtKB:O60931 · ENSEMBL:ENSG00000040531 | #219750 CYSTINOSIS, ADULT NONNEPHROPATHIC;;CYSTINOSIS, OCULAR NONNEPHROPATHIC;;CYSTINOSIS, BENIGN NONNEPHROPATHIC |
| UniProtKB:P17261 · SGD:S000000671 | #219900 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE;;CYSTINOSIS, INTERMEDIATE |
| #219800 CYSTINOSIS, NEPHROPATHIC; CTNS;;LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF;;CYSTINOSIN, DEFECT OFCYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED |
| SGD Disease Papers (3) |
|---|
| UniProtKB:P17261 · SGD:S000000671 | 9537412 Town M, et al. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18(4):319-24 |
| 19184773 Dijck PV (2009) Nutrient sensing G protein-coupled receptors: interesting targets for antifungals? Med Mycol1-10 |
| 11689434 Kalatzis V, et al. (2001) Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J 20(21):5940-9 |
