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)
Sequence
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIGNVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGYDQLN
Glycosylation Sites
Displaying all 7 entries
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
  • ProtVista GlyGen : Glycosylation Site from GlyGen
  • ProtVista UniProt : Glycosylation Site from UniProt
Pathway
Displaying all 2 entries
Pathway Name Organism
Miscellaneous transport and binding events Homo sapiens
Transport of inorganic cations/anions and amino acids/oligopeptides Homo sapiens
Disease
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

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024