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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cystinosin, lysosomal cystine transporter
Summary
- Gene Symbol
-
- CTNS
- Aliases
-
- CTNS-LSB
- PQLC4
- SLC66A4
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell membrane
- Direct protein sequencing
- Disease variant
- Glycoprotein
- Lysosome
- Melanin biosynthesis
- Protein transport
- Proteomics identification
- Reference proteome
- Repeat
- Signal
- Symport
- Transmembrane helix
- Transport
- Proteins
| UniProt | Protein Name |
|---|---|
| O60931 |
|
| I3L4A9 |
|
| A0A0S2Z3K3 |
|
| A0A0S2Z3I9 |
|
Gene Ontology (GO)
GO Hierarchy
biological process
metabolic process [inference]
nitrogen compound metabolic process [inference]
cellular metabolic process [inference]
primary metabolic process [inference]
small molecule metabolic process [inference]
organic substance metabolic process [inference]
cellular process [inference]
localization [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
positive regulation of biological process [inference]
negative regulation of biological process [inference]
regulation of cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| intracellular membrane-bounded organelle | ||
| melanosome | ||
| plasma membrane | ||
| lysosomal membrane | ||
| early endosome |
GO Hierarchy
GO Hierarchy
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:10141 | obsolete asthenopia | |
| DOID:10573 | osteomalacia | |
| DOID:10584 | retinitis pigmentosa | |
| DOID:10609 | rickets | |
| DOID:1062 | Fanconi syndrome | |
| DOID:1064 | cystinosis | |
| DOID:10652 | Alzheimer's disease | |
| DOID:1074 | kidney failure | |
| DOID:10787 | premature menopause | |
| DOID:10952 | nephritis |
- The Human Phenotype Ontology
| 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 |
|---|---|
| OMIM:219800 |
|
| ORPHA:411629 |
|
| OMIM:219900 |
|
| ORPHA:411641 |
|
| ORPHA:411634 |
|
| OMIM:219750 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100443212 | PONAB12322 | ||
| 100856090 | CANLF19189 | ||
| 112911435 | VULVU37655 | ||
| 123776992 | URSAM10038 | ||
| 100464695 | AILME03412 | ||
| 101670843 | MUSPF00573 | ||
| 101092308 | FELCA32631 | ||
| 122207295 | PANLE04243 | ||
| 101316505 | TURTR16210 | ||
| 118886526 | BALMU11293 |
