MOUSE:CTNS

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Ctns
Protein Name(s)	Cystinosin
External Links
UniProt	P57757
EMBL	AJ250670 AK078511 BC005479
CCDS	CCDS25001.1
RefSeq	NP_112541.1 XP_006534596.1 XP_006534597.1 XP_006536368.1 XP_006536369.1
UniGene	Mm.259852
SMR	P57757
PRIDE	P57757
Ensembl	ENSMUST00000006103 ENSMUST00000108476
GeneID	83429
KEGG	mmu:83429
UCSC	uc007kae.1
CTD	1497
MGI	MGI:1932872
eggNOG	NOG266153
HOGENOM	HOG000192503
HOVERGEN	HBG003083
InParanoid	P57757
KO	K12386
OMA	FQVTSQN
OrthoDB	EOG7T1RBM
PhylomeDB	P57757
TreeFam	TF313589
NextBio	350546
PRO	PR:P57757
Proteomes	UP000000589
Bgee	P57757
CleanEx	MM_CTNS
ExpressionAtlas	P57757
Genevestigator	P57757
GO	GO:0070062 GO:0016021 GO:0045111 GO:0005770 GO:0005765 GO:0005764 GO:0042470 GO:0005886 GO:0015184 GO:0007628 GO:0046034 GO:0007420 GO:0006749 GO:0007625 GO:0015811 GO:0002088 GO:0007616 GO:0042438 GO:0008542
InterPro	IPR005282 IPR006603
PANTHER	PTHR13131
Pfam	PF04193
SMART	SM00679
TIGRFAMs	TIGR00951

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0015811		PMID:25586965^[1]	ECO:0000315					As seen in Figure 1, there is an increase in accumulation of autophagosomes because there is a decrease in CNTS (cystine transporter cystinosin).	complete CACAO 10669
involved_in	GO:0015811	L-cystine transport	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1932872 PANTHER:PTN000319849 RGD:1308466 SGD:S000000671 UniProtKB:O60931 WB:WBGene00008052	P		Seeded From UniProt	complete
enables	GO:0015184	L-cystine transmembrane transporter activity	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1932872 PANTHER:PTN000319849 SGD:S000000671 UniProtKB:O60931	F		Seeded From UniProt	complete
part_of	GO:0005774	vacuolar membrane	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000319849 TAIR:locus:2168843	C		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000319798 UniProtKB:O60931 WB:WBGene00008052	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1903427	negative regulation of reactive oxygen species biosynthetic process	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1308466	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0050890	cognition	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0046034	ATP metabolic process	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931	P		Seeded From UniProt	complete
part_of	GO:0045111	intermediate filament cytoskeleton	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931	C		Seeded From UniProt	complete
part_of	GO:0043231	intracellular membrane-bounded organelle	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0015811	L-cystine transport	PMID:21897743^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2388945	P	occurs_in:(EMAPA:17161)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0015811	L-cystine transport	PMID:17977621^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2388945	P	occurs_in:(EMAPA:32845)\|occurs_in:(EMAPA:17787)\|occurs_in:(EMAPA:16895)\|occurs_in:(EMAPA:32678)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0015811	L-cystine transport	PMID:12370309^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2388945	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0015811	L-cystine transport	PMID:12370309^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0015811	L-cystine transport	PMID:18337546^[6]	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931-2	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0015811	L-cystine transport	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0015811	L-cystine transport	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1308466	P		Seeded From UniProt	complete
enables	GO:0015184	L-cystine transmembrane transporter activity	PMID:17977621^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2388945	F	occurs_in:(EMAPA:17787)\|occurs_in:(EMAPA:32678)\|occurs_in:(EMAPA:32845)\|occurs_in:(EMAPA:16895)	Seeded From UniProt	complete
enables	GO:0015184	L-cystine transmembrane transporter activity	PMID:12370309^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2388945	F		Seeded From UniProt	complete
enables	GO:0015184	L-cystine transmembrane transporter activity	PMID:12370309^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0015184	L-cystine transmembrane transporter activity	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931	F		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0010918	positive regulation of mitochondrial membrane potential	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1308466	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0010730	negative regulation of hydrogen peroxide biosynthetic process	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:1308466	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0008542	visual learning	PMID:17977621^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2388945	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007628	adult walking behavior	PMID:17977621^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2388945	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007625	grooming behavior	PMID:17977621^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2388945	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007616	long-term memory	PMID:17977621^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2388945	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007420	brain development	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0006749	glutathione metabolic process	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:18337546^[6]	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931-2	C		Seeded From UniProt	complete
part_of	GO:0005770	late endosome	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931	C		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931	C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	PMID:12370309^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	PMID:18337546^[6]	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931-2	C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	PMID:18337546^[6]	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931-1	C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:O60931	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0002088	lens development in camera-type eye	PMID:21897743^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2388945	P	results_in_development_of:(EMAPA:17161)	Seeded From UniProt	complete
involved_in	GO:1903427	negative regulation of reactive oxygen species biosynthetic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:D3ZG79 ensembl:ENSRNOP00000031580	P		Seeded From UniProt	complete
involved_in	GO:0015811	L-cystine transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:D3ZG79 ensembl:ENSRNOP00000031580	P		Seeded From UniProt	complete
involved_in	GO:0010918	positive regulation of mitochondrial membrane potential	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:D3ZG79 ensembl:ENSRNOP00000031580	P		Seeded From UniProt	complete
involved_in	GO:0010730	negative regulation of hydrogen peroxide biosynthetic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:D3ZG79 ensembl:ENSRNOP00000031580	P		Seeded From UniProt	complete
involved_in	GO:0050890	cognition	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O60931 ensembl:ENSP00000371294	P		Seeded From UniProt	complete
involved_in	GO:0046034	ATP metabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O60931 ensembl:ENSP00000371294	P		Seeded From UniProt	complete
part_of	GO:0045111	intermediate filament cytoskeleton	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O60931 ensembl:ENSP00000371294	C		Seeded From UniProt	complete
part_of	GO:0043231	intracellular membrane-bounded organelle	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O60931 ensembl:ENSP00000371294	C		Seeded From UniProt	complete
involved_in	GO:0015811	L-cystine transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O60931 ensembl:ENSP00000371294	P		Seeded From UniProt	complete
enables	GO:0015184	L-cystine transmembrane transporter activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O60931 ensembl:ENSP00000371294	F		Seeded From UniProt	complete
involved_in	GO:0007420	brain development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O60931 ensembl:ENSP00000371294	P		Seeded From UniProt	complete
involved_in	GO:0006749	glutathione metabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O60931 ensembl:ENSP00000371294	P		Seeded From UniProt	complete
part_of	GO:0005770	late endosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O60931 ensembl:ENSP00000371294	C		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O60931 ensembl:ENSP00000371294	C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O60931 ensembl:ENSP00000371294	C		Seeded From UniProt	complete
part_of	GO:0045111	intermediate filament cytoskeleton	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A0A0S2Z3I9 ensembl:ENSP00000371294	C		Seeded From UniProt	complete
part_of	GO:0043231	intracellular membrane-bounded organelle	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:A0A0S2Z3I9 ensembl:ENSP00000371294	C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0458	C		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
involved_in	GO:0042438	melanin biosynthetic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0470	P		Seeded From UniProt	complete
part_of	GO:0042470	melanosome	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0161	C		Seeded From UniProt	complete
part_of	GO:0005765	lysosomal membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0157	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Napolitano, G et al. (2015) Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. EMBO Mol Med 7 158-74 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^3.0 ^3.1 Simpson, J et al. (2011) Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse. Mol. Vis. 17 2212-20 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 Maurice, T et al. (2009) Cystine accumulation in the CNS results in severe age-related memory deficits. Neurobiol. Aging 30 987-1000 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 Cherqui, S et al. (2002) Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol. Cell. Biol. 22 7622-32 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 Taranta, A et al. (2008) Identification and subcellular localization of a new cystinosin isoform. Am. J. Physiol. Renal Physiol. 294 F1101-8 PubMed GONUTS page

[PMID:25586965-1] Napolitano, G et al. (2015) Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. EMBO Mol Med 7 158-74 PubMed GONUTS page

[PMID:21873635-2] 2.0 ^2.1 ^2.2 ^2.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:21897743-3] 3.0 ^3.1 Simpson, J et al. (2011) Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse. Mol. Vis. 17 2212-20 PubMed GONUTS page

[PMID:17977621-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 Maurice, T et al. (2009) Cystine accumulation in the CNS results in severe age-related memory deficits. Neurobiol. Aging 30 987-1000 PubMed GONUTS page

[PMID:12370309-5] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 Cherqui, S et al. (2002) Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol. Cell. Biol. 22 7622-32 PubMed GONUTS page

[PMID:18337546-6] 6.0 ^6.1 ^6.2 ^6.3 Taranta, A et al. (2008) Identification and subcellular localization of a new cystinosin isoform. Am. J. Physiol. Renal Physiol. 294 F1101-8 PubMed GONUTS page

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MOUSE:CTNS

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