Entity Details

Primary name CLN5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75503
EntryNameCLN5_HUMAN
FullNameCeroid-lipofuscinosis neuronal protein 5
TaxID9606
Evidenceevidence at protein level
Length358
SequenceStatuscomplete
DateCreated1998-12-15
DateModified2021-04-07

Ontological Relatives

GenesCLN5

GO terms

Show/Hide Table
GOName
GO:0005537 mannose binding
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0006465 signal peptide processing
GO:0007040 lysosome organization
GO:0007042 lysosomal lumen acidification
GO:0007420 brain development
GO:0016021 integral component of membrane
GO:0016798 hydrolase activity, acting on glycosyl bonds
GO:0022008 neurogenesis
GO:0030163 protein catabolic process
GO:0042147 retrograde transport, endosome to Golgi
GO:0042551 neuron maturation
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome
GO:0070085 glycosylation
GO:1904426 positive regulation of GTP binding

Subcellular Location

Show/Hide Table
Subcellular Location
Lysosome
Membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR026138 Ceroid-lipofuscinosis neuronal protein 5FamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
256731 OMIMCeroid lipofuscinosis, neuronal, 5 (CLN5)A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. The disease is caused by variants affecting the gene represented in this entry.