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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:0110038 | Alzheimer's disease 6 | |
| DOID:0110039 | Alzheimer's disease 7 | |
| DOID:0110041 | Alzheimer's disease 8 | |
| DOID:0110043 | Alzheimer's disease 10 | |
| DOID:0110044 | Alzheimer's disease 11 | |
| DOID:0110045 | Alzheimer's disease 12 | |
| DOID:0110046 | Alzheimer's disease 13 | |
| DOID:0110047 | Alzheimer's disease 14 | |
| DOID:0110048 | Alzheimer's disease 15 | |
| DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004396 | Poor appetite |
| HP:0004911 | Episodic metabolic acidosis |
| HP:0004912 | Hypophosphatemic rickets |
| HP:0004918 | Hyperchloremic metabolic acidosis |
| HP:0005599 | Hypopigmentation of hair |
| HP:0007663 | Reduced visual acuity |
| HP:0007814 | Retinal pigment epithelial mottling |
| HP:0010639 | Elevated alkaline phosphatase of bone origin |
| HP:0011106 | Hypovolemia |
| HP:0011314 | Abnormal long bone 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 |
|---|---|---|---|
| 174308 | WB:WBGene00008052 | ||
| 42723 | FB:FBgn0039045 | ||
| 100187335 | CIOIN10021 | ||
| 103183486 | CALMI27654 | ||
| 102362641 | LATCH17786 | ||
| 553594 | ZFIN:ZDB-GENE-050522-352 | DANRE02414 | |
| 103043999 | ASTMX02927 | ||
| 108271312 | ICTPU01685 | ||
| 113574465 | ELEEL14498 | ||
| 106613706 | SALSA10341 |
