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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Cystinosin
Summary
- UniProt ID
- O60931
- Gene Symbol
-
- CTNS
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- O60931
- PubChem
- O60931
- The Human Metabolome Database
- HMDBP10818
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell membrane
- Direct protein sequencing
- Disease variant
- Glycoprotein
- Lysosome
- Melanin biosynthesis
- Protein transport
- Reference proteome
- Repeat
- Signal
- Symport
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| lysosome |
| lysosomal membrane |
| plasma membrane |
| melanosome |
| intracellular membrane-bounded organelle |
| melanosome membrane |
| extracellular exosome |
| late endosome |
| GO Term |
|---|
| L-cystine transmembrane transporter activity |
| solute:proton symporter activity |
Sequence
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGYDQLN
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 36 | N-linked (GlcNAc...) (high mannose) asparagine |
|
||
| 41 | N-linked (GlcNAc...) (high mannose) asparagine |
|
||
| 51 | N-linked (GlcNAc...) (high mannose) asparagine |
|
||
| 66 | N-linked (GlcNAc...) asparagine |
|
||
| 84 | N-linked (GlcNAc...) (high mannose) asparagine |
|
||
| 104 | N-linked (GlcNAc...) (high mannose) asparagine |
|
||
| 107 | N-linked (GlcNAc...) (high mannose) asparagine |
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Miscellaneous transport and binding events | Homo sapiens |
| Transport of inorganic cations/anions and amino acids/oligopeptides | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
| DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
| DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
| DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
| DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
| DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
| DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | |
| DOID:0110295 | autosomal recessive limb-girdle muscular dystrophy type 2U | |
| DOID:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M |
