CLN5

Description		CLN5 intracellular trafficking protein
Image
GO Annotations	Cellular Component	Lysosome Lysosomal Membrane Endoplasmic Reticulum Golgi Apparatus Cytosol Integral Component Of Membrane Perinuclear Region Of Cytoplasm Extracellular Exosome
	Molecular Function	Protein Binding Mannose Binding Hydrolase Activity, Acting On Glycosyl Bonds
	Biological Process	Signal Peptide Processing Lysosome Organization Lysosomal Lumen Acidification Brain Development Neurogenesis Protein Catabolic Process Retrograde Transport, Endosome To Golgi Neuron Maturation Glycosylation Positive Regulation Of GTP Binding
Pathways
Drugs
Diseases		Neuronal ceroid lipofuscinosis, including: Infantile Neuronal Ceroid Lipofuscinosis (INCL)/ Santavuori-Haltia Disease (CLN1); Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL)/ Jansky-Bielschowsky Disease (CLN2); Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)/Batten Disease/ Spielmeyer-Vogt Disease (CLN3); Adult Neuronal Ceroid Lipofuscinosis (ANCL)/ Kufs Disease (CLN4); LINCL variant (CLN5, CLN6, CLN7, CLN8); Batten Disease variant (CLN9); Congenital NCL (CLN10) Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (AMRF); Type III Gaucher disease (GD)
GWAS		Blood protein levels ( 30072576) Morning vs. evening chronotype ( 26835600) Tourette's syndrome or obsessive-compulsive disorder ( 25158072)
Interacting Genes		8 interacting genes: FDFT1 GPR152 IGF2 INS-IGF2 PLPP6 SLC41A1 SLC41A2 TMEM31
Entrez ID		1203
HPRD ID		07619
Ensembl ID		ENSG00000102805
Uniprot IDs		A0A024R644 O75503
PDB IDs		6R99
Enriched GO Terms of Interacting Partners?
Tagcloud ?