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CTNS - cystinosin, lysosomal cystine transporter
Canonical
Pathway
Entrez Gene Name: cystinosin, lysosomal cystine transporter
Entrez GeneID: Human(1497)
, Mouse(83429), Rat(287478)
, Mouse(83429), Rat(287478) Synonyms: AI195360, AW049661, CTNS, CTNS-LSB, CYSTINOSIN, PQLC4
Gene Summary
- Human (1497): This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Role in cell:
| Disease:
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Biological Process
amino acid transmembrane transport, ATP metabolic process, brain development, cellular amino acid metabolic process, cognition, glutathione metabolic process, L-cystine transport, modified amino acid transport, transport
Cellular Components
early endosome, integral to membrane, late endosome, lysosomal membrane, lysosome, membrane
Literature References
- 17554300Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.Nature 2007 06 7;447(7145):661-78
- 19379516Nguyen CQ, Sharma A, Lee BH, She JX, McIndoe RA, Peck AB. Differential gene expression in the salivary gland during development and onset of xerostomia in Sjögren's syndrome-like disease of the C57BL/6.NOD-Aec1Aec2 mouse.Arthritis Res Ther 2009 Jan 01;11(2):R56
- 11689434Kalatzis V, Cherqui S, Antignac C, Gasnier B. Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter.EMBO J 2001 Nov 1;20(21):5940-9
Protein Domains
cystine transporter, Lysosomal Cystine Transporter, lysosomal import sequence, PQ loop repeat, transporter