Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about CTNSPROTEIN: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
Cystinosin is a 367-amino acid polytopic membrane protein localized to the lysosomal membrane, where it functions as an H⁺-driven cystine transporter<sup>[1]</sup>.
| Gene Symbol | CTNSPROTEIN |
| Protein Type | Transporter |
| Function | is a lysosomal membrane transporter protein critical for cystine efflux from lysosomes. |
| Subcellular Localization | to the lysosomal membrane, where it functions as an H⁺-driven cystine transporte |
| Molecular Weight | 42 kDa |
| GeneCards | CTNSPROTEIN |
| Human Protein Atlas | CTNSPROTEIN |
| N-terminal domain | Located in the lysosomal lumen, contains 7 N-glycosylation sites |
| Seven transmembrane helices (TM1-TM7) | Span the lysosomal membrane to form the cystine translocation pathway |
| Two PQ-loop motifs | Conserved Pro-Gln sequences in TM2 and TM5 essential for transport |
| C-terminal tail | Cytoplasmic, contains the GYDQL lysosomal sorting motif |
| Intralysosomal loops | Large glycosylated loops between TMs protect against lysosomal proteases |
| Autophagic flux | Reduced autophagosome-lysosome fusion |
| Chaperone-mediated autophagy | Impaired LAMP2A-dependent CMA |
| Endosomal trafficking | Delayed endosomal maturation and cargo sorting |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
CTNSPROTEIN["CTNSPROTEIN"]
neurodegeneration["neurodegeneration"]
CTNSPROTEIN -->|"implicated_in"| neurodegeneration
style CTNSPROTEIN fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| No outgoing edges | |||
| Source | Relation | Type | Str |
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| No incoming edges | |||
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
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Scientific analyses that reference this entity
No analyses mention this entity
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
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| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
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| No papers found | ||||