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Cystinosin (CTNS)
Function:
- thought to transport cystine out of lysosomes
Structure:
- some simililarity to yeast ERS1, thought to be involved in retention of luminal endoplasmic reticulum proteins [1]
- belongs to the cystinosin family
- contains 2 PQ-loop domains (123-189 & 263-328) both spanning 2 transmembrane domains a cytoplasmic loop & the initial part of an exoplasmic loop
Compartment:
- lysosome membrane; multi-pass membrane protein
Alternative splicing: named isoforms=2
Expression:
- strongly expressed in pancreas, kidney (adult & fetal) & in skeletal muscle
- expressed at lower levels in placenta & heart
- weakly expressed in lung, liver & brain (adult & fetal)
Pathology:
- defects in CTNS are the cause of nephropathic cystinosis
Laboratory:
- CTNS gene mutation
Related
CTNS gene
General
glycoprotein
transmembrane 7 protein
Properties
SIZE: entity length = 367 aa
MW = 42 kD
COMPARTMENT: lysosome
MOTIF: exoplasmic domain {1-121}
MOTIF: N-glycosylation site {N36}
N-glycosylation site {N41}
N-glycosylation site {N51}
N-glycosylation site {N66}
N-glycosylation site {N84}
N-glycosylation site {N104}
N-glycosylation site {N107}
transmembrane domain {122-142}
cytoplasmic loop {143-161}
transmembrane domain {162-182}
exoplasmic loop {183-205}
transmembrane domain {206-226}
cytoplasmic loop {227-237}
transmembrane domain {238-258}
exoplasmic loop {259-261}
transmembrane domain {262-282}
cytoplasmic loop {283-297}
transmembrane domain {298-318}
exoplasmic loop {319-335}
transmembrane domain {336-356}
cytoplasmic domain {357-367}
MOTIF: Lysosomal targeting motif {362-366}
Database Correlations
OMIM correlations
MORBIDMAP 606272
UniProt O60931
Entrez Gene 1497
Kegg hsa:1497
References
- Town M et al
A novel gene encoding an integral membrane protein is mutated
in nephropathic cystinosis.
Nature Genet 18:319-24, 1998
PMID: 19430480
- UniProt :accession O60931
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/CTNS