| Gene Information | |
|---|---|
| Gene Name | CTNS |
| Organism | Homo sapiens (Human) |
| Gene Length | 367 |
| Protein Names | Cystinosin |
| Target Name | cystinosin |
| Target Type | NA |
| Gene Age | 1488 ( ENSG00000040531 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | O60931 |
| Gene Card | CTNS |
| Uniprot ID | O60931 |
| Pfam | PF04193 |
| In ASD | no |
| Allosteric Prediction | yes (0.113304434) |
| Ortholog in Animals | Alpaca_ CTNS ( ortholog_one2one ) Dog_ CTNS ( ortholog_one2one ) GuineaPig_ CTNS ( ortholog_one2one ) Macaque_ CTNS ( ortholog_one2one ) Mouse_ Ctns ( ortholog_one2one ) Pig_ CTNS ( ortholog_one2one ) Rat_ Ctns ( ortholog_one2one ) Rabbit_ CTNS ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes (PubMed:22649030). Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal) (PubMed:22649030). {ECO:0000269|PubMed:22649030}.; [Isoform 2]: Represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions. {ECO:0000269|PubMed:22649030}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | NA |
| DBSNP | rs35086888 rs121908129 rs886040970 rs267606754 rs1555563010 rs113994206 rs121908126 rs1555563446 rs764168489 rs113994207 rs113994208 rs1327959008 rs161400 rs922106812 rs1800527 rs1212133760 rs1263951539 rs746307931 rs908965524 rs121908128 rs121908127 rs757535731 |
| Subcellular location [CC] | [Isoform 1]: Lysosome membrane {ECO:0000269|PubMed:11150305, ECO:0000269|PubMed:11689434, ECO:0000269|PubMed:15128704, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:25753619, ECO:0000269|PubMed:28082515}; Multi-pass membrane protein {ECO:0000255}. Melanosome membrane {ECO:0000269|PubMed:22649030}; Multi-pass membrane protein {ECO:0000255}. Note=AP-3 complex is required for localization to the lysosome. {ECO:0000269|PubMed:25753619}.; [Isoform 2]: Lysosome membrane {ECO:0000269|PubMed:18337546, ECO:0000269|PubMed:27148969}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:18337546, ECO:0000269|PubMed:27148969}; Multi-pass membrane protein {ECO:0000255}. |
| Mouse PG classification | NA |
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