Protein detail
CTNS
Cystinosin
Entry name CTNS | UniProt ID | EVMP confidence score 0.53 |
Supporting publications (n) 1 | Transmembrane count 7 | Protein classification |
Annotation confidence score; open for threshold definitions.
Extremely high >= 0.70High >= 0.60Medium >= 0.40Low >= 0.30Basic Information
Protein Names
Cystinosin
Protein Function (6)
- Predicted intracellular proteins
- Potential drug targets
- Transporters:Electrochemical Potential-driven transporters
- Disease related genes
- Human disease related genes:Congenital disorders of metabolism:Lysosomal storage diseases
- Human disease related genes:Congenital disorders of metabolism:Congenital disorders of amino acid metabolism
Transmembrane
126..150; Helical; 160..179; Helical; 203..225; Helical; 235..257; Helical; 264..289; Helical; 299..308; Helical; 332..354; Helical
Transmembrane Count
7
Ensembl
Entrez Gene Symbol
Supporting publications (n)
1
EVMP confidence score
0.53
Fluorescence & Localization
Tissue Specificchoroid plexusBrain Regional Specificchoroid plexusCell SpecificChoroid plexus epithelial cellsSingle-Nuclei Brain Specificchoroid plexus epithelial cell
Function & Pathway
Protein Function (6)
- Predicted intracellular proteins
- Potential drug targets
- Transporters:Electrochemical Potential-driven transporters
- Disease related genes
- Human disease related genes:Congenital disorders of metabolism:Lysosomal storage diseases
- Human disease related genes:Congenital disorders of metabolism:Congenital disorders of amino acid metabolism
Cellular Component (8)
Molecular Function (3)
Biological Process (3)
Reactome (3)
Mediation Categories (4)
Clinical-translation mediationFusion and delivery mediationImmune mediationMetabolism mediation
Relations & Evidence17
Ligand-Receptor Signaling (16)
16 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| receptor | receptor | OmniPath | Yes | ||||
| intracellular | intracellular | GO_Intercell | |||||
| intracellular | intracellular | UniProt_location | |||||
| intracellular | intracellular | OmniPath | |||||
| transmembrane | transmembrane | UniProt_location | |||||
| transmembrane | transmembrane | UniProt_topology | |||||
| transmembrane | transmembrane | UniProt_keyword | |||||
| transmembrane | transmembrane | OPM | |||||
| transmembrane | transmembrane | TopDB | |||||
| transmembrane | transmembrane | LOCATE |
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Isolation & Detection Technology (1)
1 record.
| EV Isolation Method | Detection Method | Number of References | References |
|---|---|---|---|
| Differential Ultracentrifugation | Mass spectrometry | 1 | 31805958 |
Sequence, Structure & Domains
Sequences
Length
367
Mass
41,738
Sequence
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGYDQLN
Alternative Products
Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60931-1; Sequence=Displayed; Name=2; Synonyms=cystinosin-LKG; IsoId=O60931-2; Sequence=VSP_038377
Alternative Sequence
363..367; YDQLN -> LQAARTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG (in isoform 2)
3D Structural Models
Turn
139..141; 261..263; 328..331; 333..338
Helix
121..138; 142..152; 160..181; 184..193; 203..225; 235..257; 264..290; 299..322; 339..355
Beta Strand
30..35; 39..43; 45..48; 54..56; 58..62; 64..67; 69..71; 76..78; 86..91; 93..101; 106..108; 112..119; 156..158; 258..260
3D Structure
Electron microscopy (5); X-ray crystallography (1)
Domain & Motif Annotations
Motif
362..366; Lysosomal targeting motif
Domain (CC)
The lysosomal targeting motif, together with the second PQ-loop mediate targeting to the lysosome.
Domain (FT)
123..189; PQ-loop 1; 263..328; PQ-loop 2
Protein Families
Cystinosin family
Sequence Similarities
Belongs to the cystinosin family.
Clinical Relevance
Related Diseases
Biomarker
Clinical trial
Supporting Publications1
| PMID | Title | Related sentences |
|---|---|---|
| 32384937 | Alzheimer's disease progression characterized by alterations in the molecular profiles and biogenesis of brain extracellular vesicles. | No related sentences available |