cystinosin, lysosomal cystine transporter

Summary
Gene Symbol
  • CTNS
Aliases
  • CTNS-LSB
  • PQLC4
  • SLC66A4
Organism
Homo sapiens (human)
External Links
NCBI Gene
1497
HGNC
2518
KEGG Gene ID
hsa:1497
PubChem
1497
Alliance of Genome Resources
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
Displaying all 4 entries
UniProt Protein Name
O60931
I3L4A9
A0A0S2Z3K3
A0A0S2Z3I9
Gene Ontology (GO)
GO Hierarchy
Displaying entries 6 - 9 of 9 in total
GO Term Evidence Code PMID
extracellular exosome
melanosome membrane
lysosome
late endosome
GO Hierarchy
GO Hierarchy
KEGG BRITE Database
Orthology
K12386
Name
cystinosin
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 102 in total
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
Displaying entries 91 - 99 of 99 in total
HPO ID HPO Term
HP:0011462 Young adult onset
HP:0011968 Feeding difficulties
HP:0012408 Medullary nephrocalcinosis
HP:0012598 Abnormal urine potassium concentration
HP:0012622 Chronic kidney disease
HP:0100511 Abnormality of vitamin D metabolism
HP:0100512 Decreased circulating vitamin D concentration
HP:0100543 Cognitive impairment
HP:0200026 Ocular pain
Displaying all 6 entries
Disease ID Disease Name
OMIM:219800
  • nephropathic cystinosis
ORPHA:411629
  • nephropathic infantile cystinosis
OMIM:219900
  • juvenile nephropathic cystinosis
ORPHA:411641
  • ocular cystinosis
ORPHA:411634
  • juvenile nephropathic cystinosis
OMIM:219750
  • ocular cystinosis

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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