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Guidelines

MIRAGE

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

HGNC:2518

JoGo

CTNS

TogoVar

CTNS

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 5** entries
UniProt	Protein Name
A0A0S2Z3I9
I3L4A9
O60931
A0A0S2Z3K3
A0A669KB82

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 27 in total

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GO Term	Evidence Code	PMID
lens development in camera-type eye
amino acid metabolic process	NAS
glutathione metabolic process	IMP
brain development	IMP
long-term memory

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

modified amino acid metabolic process [inference]

glutathione metabolic process

sulfur compound metabolic process [inference]

glutathione metabolic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

nucleoside triphosphate metabolic process [inference]

purine nucleoside triphosphate metabolic process [inference]

purine ribonucleoside triphosphate metabolic process [inference]

ATP metabolic process

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

organophosphate metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

nucleoside triphosphate metabolic process [inference]

purine nucleoside triphosphate metabolic process [inference]

purine ribonucleoside triphosphate metabolic process [inference]

ATP metabolic process

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

biosynthetic process [inference]

secondary metabolite biosynthetic process [inference]

melanin biosynthetic process

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

phenol-containing compound metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

secondary metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

secondary metabolite biosynthetic process [inference]

melanin biosynthetic process

pigment metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

pigment biosynthetic process [inference]

melanin biosynthetic process

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

nucleoside triphosphate metabolic process [inference]

purine nucleoside triphosphate metabolic process [inference]

purine ribonucleoside triphosphate metabolic process [inference]

ATP metabolic process

amino acid metabolic process

small molecule metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

nucleoside triphosphate metabolic process [inference]

purine nucleoside triphosphate metabolic process [inference]

purine ribonucleoside triphosphate metabolic process [inference]

ATP metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

carbohydrate derivative metabolic process [inference]

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

oligopeptide transmembrane transport

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

learning or memory [inference]

learning [inference]

associative learning [inference]

visual learning

memory [inference]

long-term memory

behavior [inference]

learning or memory [inference]

learning [inference]

associative learning [inference]

visual learning

memory [inference]

long-term memory

grooming behavior

locomotory behavior [inference]

adult locomotory behavior [inference]

adult walking behavior

walking behavior [inference]

adult walking behavior

visual behavior [inference]

visual learning

adult behavior [inference]

adult locomotory behavior [inference]

adult walking behavior

developmental process [inference]

anatomical structure development [inference]

lens development in camera-type eye

animal organ development

brain development

system development

response to stimulus [inference]

response to abiotic stimulus [inference]

response to radiation [inference]

response to light stimulus [inference]

visual behavior [inference]

visual learning

localization [inference]

macromolecule localization [inference]

intracellular protein localization [inference]

protein transport

establishment of localization [inference]

transport [inference]

monoatomic ion transport

monoatomic cation transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

amino acid transport [inference]

neutral amino acid transport [inference]

L-cystine transport

L-amino acid transport [inference]

L-cystine transport

protein transport

organic anion transport [inference]

carboxylic acid transport [inference]

sulfur amino acid transport [inference]

L-cystine transport

L-amino acid transport [inference]

L-cystine transport

peptide transport [inference]

oligopeptide transport [inference]

oligopeptide transmembrane transport

organic acid transport [inference]

carboxylic acid transport [inference]

sulfur amino acid transport [inference]

L-cystine transport

L-amino acid transport [inference]

L-cystine transport

transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

oligopeptide transmembrane transport

nitrogen compound transport [inference]

sulfur amino acid transport [inference]

L-cystine transport

oligopeptide transport [inference]

oligopeptide transmembrane transport

L-amino acid transport [inference]

L-cystine transport

modified amino acid transport [inference]

L-cystine transport

sulfur compound transport [inference]

sulfur amino acid transport [inference]

L-cystine transport

establishment of protein localization [inference]

protein transport

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

regulation of TORC1 signaling

positive regulation of TORC1 signaling

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

positive regulation of biological process [inference]

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

regulation of TORC1 signaling

positive regulation of TORC1 signaling

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

regulation of TORC1 signaling

positive regulation of TORC1 signaling

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of secondary metabolite biosynthetic process [inference]

regulation of melanin biosynthetic process

regulation of secondary metabolic process [inference]

regulation of secondary metabolite biosynthetic process [inference]

regulation of melanin biosynthetic process

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of intracellular signal transduction [inference]

positive regulation of TOR signaling [inference]

positive regulation of TORC1 signaling

Displaying entries **1 - 5** of 19 in total

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GO Term	Evidence Code	PMID
lysosome	IDA
lysosome	IEA
lysosomal membrane	EXP
lysosomal membrane	NAS
lysosomal membrane	TAS

GO Hierarchy

cellular component

cellular anatomical structure [inference]

endomembrane system

membrane [inference]

plasma membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

pigment granule membrane [inference]

melanosome membrane

bounding membrane of organelle [inference]

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane

pigment granule membrane [inference]

melanosome membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

pigment granule [inference]

melanosome

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

pigment granule [inference]

melanosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

pigment granule [inference]

melanosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
protein binding	IPI
L-amino acid transmembrane transporter activity	IEA
L-cystine transmembrane transporter activity	NAS
L-cystine transmembrane transporter activity	TAS
L-cystine transmembrane transporter activity	IDA

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic cation transmembrane transporter activity [inference]

proton transmembrane transporter activity [inference]

solute:proton symporter activity

solute:monoatomic cation symporter activity [inference]

solute:proton symporter activity

amino acid transmembrane transporter activity [inference]

L-amino acid transmembrane transporter activity

L-cystine transmembrane transporter activity

active transmembrane transporter activity [inference]

secondary active transmembrane transporter activity [inference]

symporter activity

solute:monoatomic cation symporter activity [inference]

solute:proton symporter activity

carboxylic acid transmembrane transporter activity [inference]

sulfur amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

L-amino acid transmembrane transporter activity

L-cystine transmembrane transporter activity

modified amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

sulfur compound transmembrane transporter activity [inference]

sulfur amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

cystinosin

Functional Category

O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
L-cystine transmembrane transporter activity

Displaying **all 2** entries
InterPro
Lysosomal cystine transporter
PQ-loop repeat

KEGG BRITE Database

Orthology

K12386

Name

cystinosin

References

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:1064	cystinosis	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 99 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000026	Male hypogonadism
HP:0000083	Renal insufficiency
HP:0000093	Proteinuria
HP:0000103	Polyuria
HP:0000114	Proximal tubulopathy
HP:0000117	Renal phosphate wasting
HP:0000124	Renal tubular dysfunction
HP:0000479	Abnormal retinal morphology
HP:0000481	Abnormal cornea morphology

Displaying **all 6** entries
Disease ID	Disease Name
OMIM:219800	nephropathic cystinosis
OMIM:219900	juvenile nephropathic cystinosis
OMIM:219750	ocular cystinosis
ORPHA:411629	nephropathic infantile cystinosis
ORPHA:411641	ocular cystinosis
ORPHA:411634	juvenile nephropathic cystinosis

PubChem Disease

GHR Health Conditions

Cystinosis

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Cystinosis

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

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Last updated: April 6, 2026