Cystinosin, lysosomal cystine transporter (Q21154758)

http://www.ebi.ac.uk/interpro/protein/O60931

porter

1 reference

Transporter Classification Database ID

2.A.43.1.1

retrieved

2 October 2019

based on heuristic

hierarchical database ID heuristic

PQ-loop repeat, protein family

1 reference

based on heuristic

inferred from protein domain or family

1 reference

13 November 2019

1 reference

13 November 2019

L-cystine transmembrane transporter activity

4 references

26 September 2017

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

26 September 2017

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

26 September 2017

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

26 September 2017

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

L-cystine transmembrane transporter activity

5 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

8 April 2019

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

intermediate filament cytoskeleton

IDA

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

integral component of membrane

IDA

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

intracellular membrane-bounded organelle

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

8 April 2019

The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

5 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

Immunolocalization of cystinosin, the protein defective in cystinosis

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

Large-scale proteomics and phosphoproteomics of urinary exosomes

IDA

extracellular exosome

1 reference

26 September 2017

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

5 references

26 September 2017

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

26 September 2017

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

26 September 2017

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

26 September 2017

The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

26 September 2017

Integral and associated lysosomal membrane proteins

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

6 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

Integral and associated lysosomal membrane proteins

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

Large-scale proteomics and phosphoproteomics of urinary exosomes

extracellular exosome

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

8 April 2019

Non-verbal deficits in young children with a genetic metabolic disorder: WPPSI-III performance in cystinosis

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

melanin biosynthetic process

IMP

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

transmembrane transport

1 reference

8 April 2019

glutathione metabolic process

TAS

1 reference

8 April 2019

Altered status of glutathione and its metabolites in cystinotic cells

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

8 April 2019

Non-verbal deficits in young children with a genetic metabolic disorder: WPPSI-III performance in cystinosis

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

lens development in camera-type eye

IMP

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

adult walking behavior

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts

TAS

ATP metabolic process

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

cellular amino acid metabolic process

IMP

1 reference

8 April 2019

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

5 references

26 September 2017

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

26 September 2017

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

26 September 2017

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

26 September 2017

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

26 September 2017

Identification and subcellular localization of a new cystinosin isoform

GOA

curator

Mouse Genome Informatics

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

1 reference

26 September 2017

http://www.ebi.ac.uk/QuickGO/annotations?protein=O60931&geneProductId=UniProtKB:O60931

negative regulation of hydrogen peroxide biosynthetic process

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

positive regulation of mitochondrial membrane potential

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

negative regulation of reactive oxygen species biosynthetic process

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

5 references

8 April 2019

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:O60931

1 reference

InterPro Release 71.0