Cystinosin, lysosomal cystine transporter (Q21154758)

InterPro Release 71.0

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

porter

1 reference

Transporter Classification Database ID

2.A.43.1.1

hierarchical database ID heuristic

2 October 2019

based on 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

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

4 references

26 September 2017

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

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

5 references

8 April 2019

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

cell component

late endosome

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

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

1 reference

8 April 2019

integral component of membrane

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

1 reference

8 April 2019

intracellular membrane-bounded organelle

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

1 reference

8 April 2019

early endosome

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

membrane

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

1 reference

8 April 2019

melanosome

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

1 reference

8 April 2019

lysosome

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

5 references

8 April 2019

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

extracellular exosome

1 reference

26 September 2017

Large-scale proteomics and phosphoproteomics of urinary exosomes

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

lysosomal membrane

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

5 references

26 September 2017

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

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

26 September 2017

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

lysosomal membrane

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

6 references

8 April 2019

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

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

8 April 2019

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

HDA

vacuolar membrane

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

plasma membrane

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

1 reference

8 April 2019

extracellular exosome

HDA

1 reference

8 April 2019

Large-scale proteomics and phosphoproteomics of urinary exosomes

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

HDA

biological process

cognition

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

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

1 reference

8 April 2019

transmembrane transport

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

1 reference

8 April 2019

glutathione metabolic process

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

visual learning

1 reference

8 April 2019

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

long-term memory

1 reference

8 April 2019

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

brain development

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

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

ion transport

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

1 reference

8 April 2019

ATP metabolic process

1 reference

8 April 2019

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

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

cellular amino acid metabolic process

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

grooming behavior

1 reference

8 April 2019

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

L-cystine transport

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

5 references

26 September 2017

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

transport

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

1 reference

26 September 2017

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

L-cystine transport

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

5 references

8 April 2019

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

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

Identifiers

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

13 November 2019

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

Transporter Classification Database ID

2.A.43.1.1

2 references

Transporter Classification database

13 March 2020

Transporter Classification database