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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

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

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **11 - 15** of 31 in total

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GO Term	Evidence Code	PMID
lens development in camera-type eye	IEA
grooming behavior	IEA
renal phosphate ion absorption	IEA
positive regulation of mitochondrial membrane potential	IEA
proximal tubule morphogenesis	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound 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

ribonucleoside 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

organonitrogen compound metabolic process [inference]

amino acid metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

secondary metabolite biosynthetic process [inference]

melanin biosynthetic process

organic substance biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

organic hydroxy compound biosynthetic process [inference]

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

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process

cellular aromatic compound 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

ribonucleoside triphosphate metabolic process [inference]

purine ribonucleoside triphosphate metabolic process [inference]

ATP metabolic process

phenol-containing compound metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP 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

ribonucleoside 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

ribonucleoside 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

cellular nitrogen compound 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

ribonucleoside 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

cellular biosynthetic process [inference]

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

heterocycle 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

ribonucleoside 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

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

ribonucleoside triphosphate metabolic process [inference]

purine ribonucleoside triphosphate metabolic process [inference]

ATP metabolic process

amino acid metabolic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process

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

ribonucleoside triphosphate metabolic process [inference]

purine ribonucleoside triphosphate metabolic process [inference]

ATP metabolic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process

glutathione 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

ribonucleoside 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

carbohydrate derivative metabolic process [inference]

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

organic cyclic compound 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

ribonucleoside triphosphate metabolic process [inference]

purine ribonucleoside triphosphate metabolic process [inference]

ATP metabolic process

phenol-containing compound metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

organic cyclic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

organonitrogen compound metabolic process [inference]

amino acid metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP metabolic process

organic substance biosynthetic process [inference]

organic cyclic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

organic hydroxy compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

organic hydroxy compound metabolic process [inference]

phenol-containing compound metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

organic hydroxy compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process

cellular aromatic compound 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

ribonucleoside triphosphate metabolic process [inference]

purine ribonucleoside triphosphate metabolic process [inference]

ATP metabolic process

phenol-containing compound metabolic process [inference]

melanin metabolic process [inference]

melanin biosynthetic process

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

ATP 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

ribonucleoside 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

ribonucleoside 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

cellular nitrogen compound 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

ribonucleoside 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

cellular biosynthetic process [inference]

aromatic compound biosynthetic process [inference]

phenol-containing compound biosynthetic process [inference]

melanin biosynthetic process

heterocycle 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

ribonucleoside 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

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport

transmembrane transport

carbohydrate transmembrane transport [inference]

monosaccharide transmembrane transport [inference]

hexose transmembrane transport [inference]

glucose transmembrane transport [inference]

renal glucose absorption

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

proton transmembrane transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

brush border assembly

multicellular organismal process [inference]

system process [inference]

renal system process [inference]

renal water transport [inference]

renal water absorption

renal absorption [inference]

renal protein absorption [inference]

renal albumin absorption

renal phosphate ion absorption

nervous system process [inference]

cognition

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 morphogenesis [inference]

tube morphogenesis [inference]

epithelial tube morphogenesis [inference]

renal tubule morphogenesis [inference]

nephron tubule morphogenesis [inference]

proximal tubule morphogenesis

tissue morphogenesis [inference]

morphogenesis of an epithelium [inference]

epithelial tube morphogenesis [inference]

renal tubule morphogenesis [inference]

nephron tubule morphogenesis [inference]

proximal tubule morphogenesis

nephron epithelium morphogenesis [inference]

nephron tubule morphogenesis [inference]

proximal tubule morphogenesis

anatomical structure development [inference]

lens development in camera-type eye

animal organ development [inference]

brain development

gland development [inference]

thyroid gland 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]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of 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

fluid transport [inference]

water transport [inference]

renal water transport [inference]

renal water absorption

transmembrane transport

carbohydrate transmembrane transport [inference]

monosaccharide transmembrane transport [inference]

hexose transmembrane transport [inference]

glucose transmembrane transport [inference]

renal glucose absorption

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

proton transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

proton transmembrane transport

organic substance transport [inference]

water transport [inference]

renal water transport [inference]

renal water absorption

carbohydrate transport [inference]

carbohydrate transmembrane transport [inference]

monosaccharide transmembrane transport [inference]

hexose transmembrane transport [inference]

glucose transmembrane transport [inference]

renal glucose absorption

protein transport

organic anion transport [inference]

carboxylic acid transport [inference]

amino acid transport [inference]

sulfur amino acid transport [inference]

L-cystine transport

neutral amino acid transport [inference]

L-cystine transport

L-amino acid transport [inference]

L-cystine transport

organic acid transport [inference]

carboxylic acid transport [inference]

amino acid transport [inference]

sulfur amino acid transport [inference]

L-cystine transport

neutral amino acid transport [inference]

L-cystine transport

L-amino acid transport [inference]

L-cystine transport

modified amino acid transport [inference]

L-cystine transport

nitrogen compound transport [inference]

amino acid transport [inference]

sulfur amino acid transport [inference]

L-cystine transport

neutral amino acid transport [inference]

L-cystine transport

L-amino acid transport [inference]

L-cystine transport

protein 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

cellular localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein transport

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

regulation of cellular biosynthetic process [inference]

regulation of hydrogen peroxide biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of cellular biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

regulation of melanin biosynthetic process

regulation of secondary metabolite biosynthetic process [inference]

regulation of melanin biosynthetic process

regulation of reactive oxygen species biosynthetic process [inference]

regulation of hydrogen peroxide biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species metabolic process [inference]

negative regulation of hydrogen peroxide metabolic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

positive regulation of metabolic process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of thyroid hormone generation

positive regulation of hormone metabolic process [inference]

positive regulation of thyroid hormone generation

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of thyroid hormone generation

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species metabolic process [inference]

negative regulation of hydrogen peroxide metabolic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

positive regulation of cellular metabolic process [inference]

positive regulation of thyroid hormone generation

regulation of cellular biosynthetic process [inference]

regulation of hydrogen peroxide biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of cellular biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

regulation of melanin biosynthetic process

regulation of reactive oxygen species metabolic process [inference]

regulation of hydrogen peroxide metabolic process [inference]

negative regulation of hydrogen peroxide metabolic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

regulation of hydrogen peroxide biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

regulation of reactive oxygen species biosynthetic process [inference]

regulation of hydrogen peroxide biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species metabolic process [inference]

negative regulation of hydrogen peroxide metabolic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

regulation of thyroid hormone generation [inference]

positive regulation of thyroid hormone generation

regulation of hormone metabolic process [inference]

positive regulation of hormone metabolic process [inference]

positive regulation of thyroid hormone generation

regulation of thyroid hormone generation [inference]

positive regulation of thyroid hormone generation

regulation of secondary metabolic process [inference]

regulation of secondary metabolite biosynthetic process [inference]

regulation of melanin biosynthetic process

regulation of nitrogen compound metabolic process [inference]

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of thyroid hormone generation

regulation of thyroid hormone generation [inference]

positive regulation of thyroid hormone generation

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 metabolic process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of thyroid hormone generation

positive regulation of hormone metabolic process [inference]

positive regulation of thyroid hormone generation

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of thyroid hormone generation

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 cellular metabolic process [inference]

positive regulation of thyroid hormone generation

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

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species metabolic process [inference]

negative regulation of hydrogen peroxide metabolic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species metabolic process [inference]

negative regulation of hydrogen peroxide metabolic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process

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 cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species metabolic process [inference]

negative regulation of hydrogen peroxide metabolic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

positive regulation of cellular metabolic process [inference]

positive regulation of thyroid hormone generation

regulation of cellular biosynthetic process [inference]

regulation of hydrogen peroxide biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of cellular biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

regulation of melanin biosynthetic process

regulation of reactive oxygen species metabolic process [inference]

regulation of hydrogen peroxide metabolic process [inference]

negative regulation of hydrogen peroxide metabolic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

regulation of hydrogen peroxide biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

regulation of reactive oxygen species biosynthetic process [inference]

regulation of hydrogen peroxide biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species metabolic process [inference]

negative regulation of hydrogen peroxide metabolic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

regulation of thyroid hormone generation [inference]

positive regulation of thyroid hormone generation

regulation of programmed cell death [inference]

regulation of apoptotic process [inference]

negative regulation of apoptotic process

negative regulation of programmed cell death [inference]

negative regulation of apoptotic 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

positive regulation of cellular metabolic process [inference]

positive regulation of thyroid hormone generation

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species metabolic process [inference]

negative regulation of hydrogen peroxide metabolic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of reactive oxygen species biosynthetic process [inference]

negative regulation of hydrogen peroxide biosynthetic process

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process

regulation of biological quality [inference]

regulation of hormone levels [inference]

regulation of hormone metabolic process [inference]

positive regulation of hormone metabolic process [inference]

positive regulation of thyroid hormone generation

regulation of thyroid hormone generation [inference]

positive regulation of thyroid hormone generation

regulation of membrane potential [inference]

positive regulation of membrane potential [inference]

positive regulation of mitochondrial membrane potential

regulation of mitochondrial membrane potential [inference]

positive regulation of mitochondrial membrane potential

Displaying entries **6 - 9** of 9 in total

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GO Term	Evidence Code	PMID
extracellular exosome	HDA	19056867
melanosome membrane	IEA
lysosome	IDA	11855931 12138135 15128704
late endosome	IDA	15128704

GO Hierarchy

cellular component

cellular anatomical entity [inference]

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

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

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 **all 2** entries
GO Term	Evidence Code	PMID
L-cystine transmembrane transporter activity	IBA IDA IMP NAS TAS	11689434 15128704 22232659 36113465 9537412
solute:proton symporter activity	IDA	11689434 22232659 36113465

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

organic acid transmembrane transporter activity [inference]

carboxylic acid transmembrane transporter activity [inference]

amino acid transmembrane transporter activity [inference]

sulfur amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

L-amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

organic anion transmembrane transporter activity [inference]

carboxylic acid transmembrane transporter activity [inference]

amino acid transmembrane transporter activity [inference]

sulfur amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

L-amino acid transmembrane transporter activity [inference]

L-cystine transmembrane transporter activity

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

active monoatomic ion transmembrane transporter activity [inference]

solute:monoatomic cation symporter activity [inference]

solute:proton symporter activity

inorganic molecular entity transmembrane transporter activity [inference]

inorganic cation transmembrane transporter activity [inference]

proton transmembrane transporter activity [inference]

solute:proton symporter activity

active transmembrane transporter activity [inference]

secondary active transmembrane transporter activity [inference]

symporter activity [inference]

solute:monoatomic cation symporter activity [inference]

solute:proton symporter activity

active monoatomic ion transmembrane transporter activity [inference]

solute:monoatomic cation symporter activity [inference]

solute:proton symporter 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

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K12386

Name

cystinosin

References

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0014667	disease of metabolism	DisGeNET
DOID:0050336	hypophosphatemia	DisGeNET
DOID:0050572	cone-rod dystrophy	DisGeNET
DOID:0060891	Parkinson's disease 19A	DisGeNET
DOID:0060895	Parkinson's disease 4	DisGeNET
DOID:0060896	Parkinson's disease 23	DisGeNET
DOID:0080001	bone disease	DisGeNET
DOID:0080348	Alzheimer's disease 1	DisGeNET
DOID:0110035	Alzheimer's disease 2	DisGeNET
DOID:0110037	Alzheimer's disease 5	DisGeNET

The Human Phenotype Ontology

Displaying entries **31 - 40** of 99 in total

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HPO ID	HPO Term
HP:0001508	Failure to thrive
HP:0001510	Growth delay
HP:0001531	Failure to thrive in infancy
HP:0001738	Exocrine pancreatic insufficiency
HP:0001744	Splenomegaly
HP:0001824	Weight loss
HP:0001941	Acidosis
HP:0001942	Metabolic acidosis
HP:0001944	Dehydration
HP:0001959	Polydipsia

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

PubChem Disease

GHR Health Conditions

Cystinosis

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Cystinosis

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

Ortholog

Displaying entries **1 - 10** of 84 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	174308	WB:WBGene00008052
Drosophila melanogaster	42723	FB:FBgn0039045
Ciona intestinalis	100187335		CIOIN10021
Callorhinchus milii	103183486		CALMI27654
Latimeria chalumnae	102362641		LATCH17786
Danio rerio	553594	ZFIN:ZDB-GENE-050522-352	DANRE02414
Astyanax mexicanus	103043999		ASTMX02927
Ictalurus punctatus	108271312		ICTPU01685
Electrophorus electricus	113574465		ELEEL14498
Salmo salar	106613706		SALSA10341

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements