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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:0014667 | disease of metabolism | |
| DOID:0050336 | hypophosphatemia | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0060891 | Parkinson's disease 19A | |
| DOID:0060895 | Parkinson's disease 4 | |
| DOID:0060896 | Parkinson's disease 23 | |
| DOID:0080001 | bone disease | |
| DOID:0080348 | Alzheimer's disease 1 | |
| DOID:0110035 | Alzheimer's disease 2 | |
| DOID:0110037 | Alzheimer's disease 5 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000821 | Hypothyroidism |
| HP:0000823 | Delayed puberty |
| HP:0000832 | Primary hypothyroidism |
| HP:0000897 | Rachitic rosary |
| HP:0000966 | Hypohidrosis |
| HP:0001010 | Hypopigmentation of the skin |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001507 | Growth abnormality |
| 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 |
|---|---|---|---|
| 100669881 | LOXAF07846 | ||
| 100060554 | HORSE03110 | ||
| 100515235 | PIGXX03131 | ||
| 613527 | BOVIN12569 | ||
| 102187709 | CAPHI10245 | ||
| 101122533 | SHEEP02647 | ||
| 105983465 | DIPOR08657 | ||
| 83429 | MGI:1932872 | MOUSE07194 | |
| 287478 | RGD:1308466 | RATNO00724 | |
| 101721174 | HETGA14366 |
