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CLN5 intracellular trafficking protein

Summary

Gene Symbol

CLN5

Organism

Homo sapiens (human)

External Links

NCBI Gene

1203

PubChem

1203

Alliance of Genome Resources

HGNC:2076

Annotation

Keyword

3D-structure
Disease variant
Disulfide bond
Epilepsy
Glycoprotein
Hydrolase
Lysosome
Neuronal ceroid lipofuscinosis
Reference proteome
Signal-anchor
Transferase
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
O75503	Ceroid-lipofuscinosis neuronal protein 5 Palmitoyl protein thioesterase CLN5 S-depalmitoylase CLN5

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
brain development	IEP	10992246
retrograde transport, endosome to Golgi	IMP	22431521
visual perception	IEA
lysosomal lumen acidification	IMP	11722572
neurogenesis	IEP	10992246

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

amide metabolic process [inference]

peptide metabolic process [inference]

signal peptide processing

organonitrogen compound metabolic process [inference]

peptide metabolic process [inference]

signal peptide processing

protein metabolic process [inference]

proteolysis [inference]

protein processing [inference]

signal peptide processing

protein catabolic process

protein maturation [inference]

protein processing [inference]

signal peptide processing

organonitrogen compound catabolic process [inference]

protein catabolic process

catabolic process [inference]

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process

primary metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing [inference]

signal peptide processing

protein catabolic process

protein maturation [inference]

protein processing [inference]

signal peptide processing

glycosylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process

protein metabolic process [inference]

proteolysis [inference]

protein processing [inference]

signal peptide processing

protein catabolic process

protein maturation [inference]

protein processing [inference]

signal peptide processing

organonitrogen compound metabolic process [inference]

peptide metabolic process [inference]

signal peptide processing

protein metabolic process [inference]

proteolysis [inference]

protein processing [inference]

signal peptide processing

protein catabolic process

protein maturation [inference]

protein processing [inference]

signal peptide processing

organonitrogen compound catabolic process [inference]

protein catabolic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process

cellular process [inference]

vesicle-mediated transport [inference]

endosomal transport [inference]

retrograde transport, endosome to Golgi

cellular developmental process [inference]

cell differentiation [inference]

neurogenesis

cell maturation [inference]

neuron maturation

cellular localization [inference]

intracellular transport [inference]

endosomal transport [inference]

retrograde transport, endosome to Golgi

cytosolic transport [inference]

retrograde transport, endosome to Golgi

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

vacuole organization [inference]

lytic vacuole organization [inference]

lysosome organization

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of light stimulus [inference]

visual perception

developmental process [inference]

developmental maturation [inference]

anatomical structure maturation [inference]

cell maturation [inference]

neuron maturation

anatomical structure development [inference]

animal organ development [inference]

brain development

cellular developmental process [inference]

cell differentiation [inference]

neurogenesis

cell maturation [inference]

neuron maturation

homeostatic process [inference]

cellular homeostasis [inference]

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

monoatomic cation homeostasis [inference]

regulation of pH [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

intracellular monoatomic cation homeostasis [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

localization [inference]

establishment of localization [inference]

transport [inference]

vesicle-mediated transport [inference]

endosomal transport [inference]

retrograde transport, endosome to Golgi

intracellular transport [inference]

endosomal transport [inference]

retrograde transport, endosome to Golgi

cytosolic transport [inference]

retrograde transport, endosome to Golgi

establishment of localization in cell [inference]

intracellular transport [inference]

endosomal transport [inference]

retrograde transport, endosome to Golgi

cytosolic transport [inference]

retrograde transport, endosome to Golgi

cellular localization [inference]

intracellular transport [inference]

endosomal transport [inference]

retrograde transport, endosome to Golgi

cytosolic transport [inference]

retrograde transport, endosome to Golgi

biological regulation [inference]

regulation of pH [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

regulation of biological quality [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

regulation of molecular function [inference]

positive regulation of molecular function [inference]

positive regulation of binding [inference]

positive regulation of GTP binding

regulation of binding [inference]

positive regulation of binding [inference]

positive regulation of GTP binding

regulation of GTP binding [inference]

positive regulation of GTP binding

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

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GO Term	Evidence Code	PMID
perinuclear region of cytoplasm	IDA	10992246
extracellular exosome	HDA	23533145
lysosome	IDA	11971870 19941651 22431521 37708259
vacuolar lumen	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

membrane

organelle membrane [inference]

bounding membrane of organelle [inference]

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

vacuolar lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

perinuclear region of cytoplasm

Displaying **all 5** entries
GO Term	Evidence Code	PMID
hydrolase activity, acting on glycosyl bonds	IBA
mannose binding	IDA	16399764
protein binding	IPI	12134079 14699076 22431521 32296183
long-chain acyl-CoA hydrolase activity	IDA	35427157
bis(monoacylglycero)phosphate synthase activity	IDA	37708259

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

acyltransferase activity [inference]

acyltransferase activity, transferring groups other than amino-acyl groups [inference]

bis(monoacylglycero)phosphate synthase activity

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

thiolester hydrolase activity [inference]

CoA hydrolase activity [inference]

acyl-CoA hydrolase activity [inference]

long-chain acyl-CoA hydrolase activity

hydrolase activity, acting on glycosyl bonds

binding [inference]

protein binding

carbohydrate binding [inference]

monosaccharide binding [inference]

mannose binding

small molecule binding [inference]

monosaccharide binding [inference]

mannose binding

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying entries **41 - 49** of 49 in total

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DO ID	Disease Name	Source
DOID:310	MERRF syndrome	DisGeNET
DOID:3534	Lafora disease	DisGeNET
DOID:3535	Unverricht-Lundborg syndrome	DisGeNET
DOID:4090	agnosia	DisGeNET
DOID:529	blepharospasm	DisGeNET
DOID:5614	eye disease	DisGeNET
DOID:8466	retinal degeneration	DisGeNET
DOID:8927	learning disability	DisGeNET
DOID:936	brain disease	DisGeNET DisGeNET

Ortholog

Displaying entries **41 - 50** of 78 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	211286	MGI:2442253	MOUSE12471
Rattus norvegicus	306128	RGD:1306965	RATNO10116
Cavia porcellus	100726787		CAVPO02602
Octodon degus	101588948		OCTDE03153
Monodelphis domestica	100012768		MONDO31305
Pelodiscus sinensis	102456361		PELSI11332
Bos indicus x Bos taurus	113902443		BOBOX41776
Vicugna pacos	102526564		VICPA01040
Microcebus murinus	105855854		MICMU15569
Otolemur garnettii	100948512		OTOGA12092