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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 **1 - 5** of 31 in total

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GO Term	Evidence Code	PMID
transmembrane transport
visual learning	IEA
positive regulation of TORC1 signaling	IEA
melanin biosynthetic process	IEA
negative regulation of apoptotic process	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 **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
intracellular membrane-bounded organelle	IDA
melanosome	IDA	22649030
plasma membrane	IEA
lysosomal membrane	HDA IBA IDA NAS TAS	11150305 11689434 15128704 17897319 9537412
early endosome	IDA	11150305

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

Displaying entries **31 - 40** of **102** in total

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DO ID	Disease Name	Source
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L	DisGeNET
DOID:0110285	autosomal recessive limb-girdle muscular dystrophy type 2Q	DisGeNET
DOID:0110286	obsolete autosomal recessive limb-girdle muscular dystrophy type 2R	DisGeNET
DOID:0110287	autosomal recessive limb-girdle muscular dystrophy type 2S	DisGeNET
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y	DisGeNET
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O	DisGeNET
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P	DisGeNET
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T	DisGeNET
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U	DisGeNET
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M	DisGeNET

The Human Phenotype Ontology

Displaying entries **51 - 60** of 99 in total

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HPO ID	HPO Term
HP:0002500	Abnormal cerebral white matter morphology
HP:0002514	Cerebral calcification
HP:0002748	Rickets
HP:0002750	Delayed skeletal maturation
HP:0002857	Genu valgum
HP:0002900	Hypokalemia
HP:0002901	Hypocalcemia
HP:0002902	Hyponatremia
HP:0002907	Microscopic hematuria
HP:0002909	Generalized aminoaciduria

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