GlyCosmos Portal

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 **1 - 10** of 99 in total

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

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