cystinosin, lysosomal cystine transporter
| UniProt | Protein Name |
|---|---|
| A0A0S2Z3I9 |
|
| I3L4A9 |
|
| O60931 |
|
| A0A0S2Z3K3 |
|
| A0A669KB82 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| lens development in camera-type eye | ||
| amino acid metabolic process | ||
| glutathione metabolic process | ||
| monoatomic ion transport | ||
| ion transport |
| GO Term | Evidence Code | PMID |
|---|---|---|
| lysosome | ||
| lysosomal membrane | ||
| lysosomal membrane | ||
| lysosomal membrane | ||
| lysosomal membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| L-cystine transmembrane transporter activity | ||
| L-cystine transmembrane transporter activity | ||
| L-cystine transmembrane transporter activity | ||
| L-cystine transmembrane transporter activity |
| Gene Ontology |
|---|
| L-cystine transmembrane transporter activity |
| InterPro |
|---|
| Lysosomal cystine transporter |
| PQ-loop repeat |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:1064 | cystinosis |
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000026 | Male hypogonadism |
| HP:0000083 | Renal insufficiency |
| HP:0000093 | Proteinuria |
| HP:0000103 | Polyuria |
| HP:0000114 | Proximal tubulopathy |
| HP:0000117 | Renal phosphate wasting |
| HP:0000124 | Renal tubular dysfunction |
| HP:0000479 | Abnormal retinal morphology |
| HP:0000481 | Abnormal cornea morphology |
| Disease ID | Disease Name |
|---|---|
| ORPHA:411641 |
|
| OMIM:219900 |
|
| ORPHA:411629 |
|
| OMIM:219800 |
|
| OMIM:219750 |
|
| ORPHA:411634 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 6, 2026