Names & Taxonomy
- Uniprot ID:
- O60931
- Entry Name:
- CTNS_HUMAN
- Status:
- reviewed
- Protein Names:
- Cystinosin
- Gene Names:
- CTNS
- Gene Names Primary:
- CTNS
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 367
- Sequence:
- MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGYDQLN
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Isoform 1: Lysosome membrane
Function
- Function:
- Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR.
- Cross Reference Drug Bank:
- DB00138
- Gene Ontology Go:
- extracellular exosome
integral component of membrane
intermediate filament cytoskeleton
intracellular membrane-bounded organelle
late endosome
lysosomal membrane
lysosome
melanosome
plasma membrane
L-cystine transmembrane transporter activity
adult walking behavior
ATP metabolic process
brain development
cellular amino acid metabolic process
cognition
glutathione metabolic process
grooming behavior
ion transport
L-cystine transport
lens development in camera-type eye
long-term memory
melanin biosynthetic process
transmembrane transport
visual learning - Gene Ontology Biological Process:
- adult walking behavior
ATP metabolic process
brain development
cellular amino acid metabolic process
cognition
glutathione metabolic process
grooming behavior
ion transport
L-cystine transport
lens development in camera-type eye
long-term memory
melanin biosynthetic process
transmembrane transport
visual learning - Gene Ontology Molecular Function:
- L-cystine transmembrane transporter activity
- Gene Ontology Cellular Component:
- extracellular exosome
integral component of membrane
intermediate filament cytoskeleton
intracellular membrane-bounded organelle
late endosome
lysosomal membrane
lysosome
melanosome
plasma membrane - Keywords:
- Alternative splicing
Cell membrane
Complete proteome
Disease mutation
Glycoprotein
Lysosome
Melanin biosynthesis
Membrane
Polymorphism
Reference proteome
Repeat
Transmembrane
Transmembrane helix
Transport