Entity Details

Primary name CTNS_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60931
EntryNameCTNS_HUMAN
FullNameCystinosin
TaxID9606
Evidenceevidence at protein level
Length367
SequenceStatuscomplete
DateCreated2001-02-21
DateModified2021-06-02

Ontological Relatives

GenesCTNS

GO terms

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GOName
GO:0002088 lens development in camera-type eye
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005770 late endosome
GO:0005774 vacuolar membrane
GO:0005886 plasma membrane
GO:0006520 cellular amino acid metabolic process
GO:0006749 glutathione metabolic process
GO:0006811 ion transport
GO:0007420 brain development
GO:0007616 long-term memory
GO:0007625 grooming behavior
GO:0007628 adult walking behavior
GO:0008542 visual learning
GO:0010730 negative regulation of hydrogen peroxide biosynthetic process
GO:0010918 positive regulation of mitochondrial membrane potential
GO:0015031 protein transport
GO:0015184 L-cystine transmembrane transporter activity
GO:0015295 solute:proton symporter activity
GO:0015811 L-cystine transport
GO:0016021 integral component of membrane
GO:0033162 melanosome membrane
GO:0042438 melanin biosynthetic process
GO:0042470 melanosome
GO:0043231 intracellular membrane-bounded organelle
GO:0045111 intermediate filament cytoskeleton
GO:0046034 ATP metabolic process
GO:0048021 regulation of melanin biosynthetic process
GO:0050890 cognition
GO:0055085 transmembrane transport
GO:0070062 extracellular exosome
GO:1904263 positive regulation of TORC1 signaling

Subcellular Location

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Subcellular Location
Cell membrane
Lysosome membrane
Melanosome membrane

Domains

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DomainNameCategoryType
IPR005282 Lysosomal cystine transporterFamilyFamily
IPR006603 PQ-loop repeatRepeatRepeat

Diseases

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Disease IDSourceNameDescription
219800 OMIMCystinosis, nephropathic type (CTNS)A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications. The disease is caused by variants affecting the gene represented in this entry.
219750 OMIMCystinosis, adult, non-nephropathic type (CTNSANN)A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benign course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals. The disease is caused by variants affecting the gene represented in this entry.
219900 OMIMCystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN)A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis is an intermediated form, manifesting first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00138 CystineDrugbanksmall molecule

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
CTNS_HUMANGNMT_HUMANBioGRID, IntAct32296183 details