CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol

Stable Identifier
R-HSA-5340130
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol, lysosomal lumen, lysosomal membrane
ReviewStatus
5/5
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CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol
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Cystinosin (CTNS) is an integral lysosomal membrane protein which can transport L-cystine (CySS-, the oxidative product of two cysteine molecules linked via a disulfide bond) together with H+ out of lysosomes. CySS- is a component of hair, skin and nails. Defects in CTNS cause cystinosis, lysosomal storage-type diseases due to defective transport of CySS- across the lysosomal membrane (Town et al. 1998, Anikster et al. 1999; review Elmonem et al. 2016). Patients with cystinosis frequently exhibit blond hair and a fair complexion, suggesting an involvement in melanogenesis. Chiaverini et al. show CTNS is also localised to melanosomes. CTNS silencing led to a 75% reduction of melanin synthesis, caused by a degradation of tyrosinase (the enzyme responsible for melanin biosynthesis), thereby identifying a role for CTNS in melanogenesis (Chiaverini et al. 2012).
Literature References
PubMed ID Title Journal Year
27102039 Cystinosis: a review

Elmonem, MA, Veys, KR, Soliman, NA, van Dyck, M, van den Heuvel, LP, Levtchenko, E

Orphanet J Rare Dis 2016
10571941 CTNS mutations in patients with cystinosis

Anikster, Y, Shotelersuk, V, Gahl, WA

Hum. Mutat. 1999
9537412 A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Town, M, Jean, G, Cherqui, S, Attard, M, Forestier, L, Whitmore, SA, Callen, DF, Gribouval, O, Broyer, M, Bates, GP, van't Hoff, W, Antignac, C

Nat. Genet. 1998
22649030 Cystinosin is a melanosomal protein that regulates melanin synthesis

Chiaverini, C, Sillard, L, Flori, E, Ito, S, Briganti, S, Wakamatsu, K, Fontas, E, Berard, E, Cailliez, M, Cochat, P, Foulard, M, Guest, G, Niaudet, P, Picardo, M, Bernard, FX, Antignac, C, Ortonne, JP, Ballotti, R

FASEB J. 2012
Participants
Input
Output
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as an event of
Catalyst Activity

L-cystine transmembrane transporter activity of CTNS [lysosomal membrane]

Physical Entity
CTNS [lysosomal membrane] (Homo sapiens)
Activity
L-cystine transmembrane transporter activity (GO:0015184)
Orthologous Events
CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol (Bos taurus)
CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol (Caenorhabditis elegans)
CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol (Canis familiaris)
CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol (Danio rerio)
CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol (Dictyostelium discoideum)
CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol (Drosophila melanogaster)
CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol (Gallus gallus)
CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol (Mus musculus)
CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol (Rattus norvegicus)
CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol (Saccharomyces cerevisiae)
CTNS cotransports CySS-, H+ from lysosomal lumen to cytosol (Sus scrofa)
Cross References
RHEA
Authored
Jassal, B  (2014-03-10)
Reviewed
D'Eustachio, P  (2015-02-11)
Created
Jassal, B  (2014-03-10)
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