Version 5.4
Homo sapiens Gene: CTNS
Summary
InnateDB Gene IDBG-17400.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CTNS
Gene Name cystinosin, lysosomal cystine transporter
Synonyms CTNS-LSB; PQLC4
Species Homo sapiens
Ensembl Gene ENSG00000040531
Encoded Proteins
IDBP-17404
cystinosin, lysosomal cystine transporter
IDBP-17406
cystinosin, lysosomal cystine transporter
IDBP-230968
cystinosin, lysosomal cystine transporter
IDBP-361762
cystinosin, lysosomal cystine transporter
IDBP-759135
IDBP-759013
IDBP-760257
IDBP-758319
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:3636468-3661542
Strand Forward strand
Band p13.2
Transcripts
ENST00000381870 ENSP00000371294
ENST00000046640 ENSP00000046640
ENST00000399306 ENSP00000382245
ENST00000452111 ENSP00000408652
ENST00000495445
ENST00000467663 ENSP00000461056
ENST00000488623
ENST00000574776 ENSP00000461118
ENST00000576979 ENSP00000458457
ENST00000574218 ENSP00000458912
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0015184 L-cystine transmembrane transporter activity
Biological Process
GO:0002088 lens development in camera-type eye
GO:0006520 cellular amino acid metabolic process
GO:0006749 glutathione metabolic process
GO:0007420 brain development
GO:0007616 long-term memory
GO:0007625 grooming behavior
GO:0007628 adult walking behavior
GO:0008542 visual learning
GO:0015811 L-cystine transport
GO:0046034 ATP metabolic process
GO:0050890 cognition
Cellular Component
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005770 late endosome
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0045111 intermediate filament cytoskeleton
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000005949
View Gene Order
ENSBTAG00000000831
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.187667
RefSeq NM_001031681 NM_004937 XM_005256485 XM_006721463
HUGO
OMIM
CCDS CCDS11031 CCDS32530
HPRD 05885
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca