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Tbio
CTNS
Cystinosin

Protein Summary
Description
Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000046640
  • ENSP00000046640
  • ENSG00000040531
  • ENST00000381870
  • ENSP00000371294

Symbol
  • PQLC4
  • SLC66A4
  • CTNS-LSB
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.89
biological process
0.79
cellular component
0.74
transcription factor perturbation
0.74
tissue sample
0.71


Related Tools
RESOLUTE
RESOLUTE is a public-private partnership with the goal of escalating research on solute carriers (SLCs) and to establish SLCs as a tractable target class for medical research and development.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 238.17   (req: < 5)
Gene RIFs: 39   (req: <= 3)
Antibodies: 186   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 238.17   (req: >= 5)
Gene RIFs: 39   (req: > 3)
Antibodies: 186   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 17
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
cystinosin, lysosomal cystine transporter
VGNC:12075
748043
Macaque
cystinosin, lysosomal cystine transporter
706721
Mouse
MGI:1932872
83429
Rat
RGD:1308466
287478
Dog
cystinosin, lysosomal cystine transporter
VGNC:39703
100856090
Species
Name
OMA
EggNOG
Inparanoid
Chimp
cystinosin, lysosomal cystine transporter
Macaque
cystinosin, lysosomal cystine transporter
Mouse
Rat
Dog
cystinosin, lysosomal cystine transporter
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-O60931-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (5)
Miscellaneous transport and binding events (R-HSA-5223345)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Miscellaneous transport and binding events
Reactome
SLC-mediated transmembrane transport
Reactome
Transport of inorganic cations/anions and amino acids/oligopeptides
Reactome
Transport of small molecules
Name
Explore in Pharos
Explore in Source
Miscellaneous transport and binding events
SLC-mediated transmembrane transport
Transport of inorganic cations/anions and amino acids/oligopeptides
Transport of small molecules
Gene Ontology Terms (27)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Mutant Phenotype (IMP)
UniProtKB
Protein-Protein Interactions (34)
1 – 10 of 34
SHPK
Tbio
Family: Kinase
Novelty: 0.16166855
Score: 0.906
Data Source: STRINGDB
PQLC2
Tbio
Novelty: 0.19332453
Score: 0.874
Data Source: STRINGDB
FGGY
Tbio
Family: Kinase
Novelty: 0.05162577
Score: 0.718
Data Source: STRINGDB
NIPAL4
Tbio
Novelty: 0.05110099
Score: 0.688
Data Source: STRINGDB
GNG13
Tbio
Novelty: 0.13011919
Score: 0.686
Data Source: STRINGDB
TNNI3
Tbio
Novelty: 0.00020053
Score: 0.665
Data Source: STRINGDB
TRPV1
Tclin
Family: IC
Novelty: 0.00039493
Score: 0.64
Data Source: STRINGDB
BTG3
Tbio
Novelty: 0.01541026
Score: 0.64
Data Source: STRINGDB
PQLC1
Tdark
Novelty: 2.22573447
Score: 0.636
Data Source: STRINGDB
PI4K2B
Tbio
Family: Enzyme
Novelty: 0.19272599
Score: 0.615
Data Source: STRINGDB
Publication Statistics
PubMed Score  238.17

PubMed score by year
PubTator Score  132.19

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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