Sequence Detail

ID/Version

P57757 (UniProt | EBI)

Last sequence update: 2001-02-21
Last annotation update: 2024-01-24

Sequence description from provider

RecName: Full=Cystinosin {ECO:0000303|PubMed:11121245};Flags: Precursor;

Provider

SWISS-PROT

Sequence

Polypeptide 367 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Ctns	cystinosis, nephropathic	58	96	3	7

Sequence references in MGI

J:66375 Cherqui S, et al., Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. BMC Genomics. 2000;1(1):2
J:79610 Cherqui S, et al., Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol Cell Biol. 2002 Nov;22(21):7622-32
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:149574 Maurice T, et al., Cystine accumulation in the CNS results in severe age-related memory deficits. Neurobiol Aging. 2009 Jun;30(6):987-1000
J:179515 Simpson J, et al., Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse. Mol Vis. 2011;17:2212-20
J:244209 Chiaverini C, et al., Cystinosin is a melanosomal protein that regulates melanin synthesis. FASEB J. 2012 Sep;26(9):3779-89
J:246019 Zhang J, et al., Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A. J Biol Chem. 2017 Jun 23;292(25):10328-10346
J:302462 Andrzejewska Z, et al., Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling. J Am Soc Nephrol. 2016 Jun;27(6):1678-88