CLN5

Description		CLN5 lysosomal BMP synthase
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GO Annotations	Cellular Component	Lysosome Lysosomal Membrane Vacuolar Lumen Endoplasmic Reticulum Golgi Apparatus Cytosol Membrane Perinuclear Region Of Cytoplasm Extracellular Exosome
	Molecular Function	Protein Binding D-mannose Binding Transferase Activity Hydrolase Activity Hydrolase Activity, Acting On Glycosyl Bonds Long-chain Fatty Acyl-CoA Hydrolase Activity Bis(monoacylglycero)phosphate Synthase Activity
	Biological Process	Signal Peptide Processing Lysosome Organization Lysosomal Lumen Acidification Brain Development Visual Perception Neurogenesis Protein Catabolic Process Retrograde Transport, Endosome To Golgi Neuron Maturation Glycosylation Positive Regulation Of GTP Binding
Pathways
Drugs
Diseases		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) 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)
GWAS		Blood protein levels ( 30072576) Major depressive disorder ( 34099189) Morning vs. evening chronotype ( 26835600) Tourette's syndrome or obsessive-compulsive disorder ( 25158072)
Interacting Genes		9 interacting genes: FDFT1 GPR152 IGF2 INS-IGF2 OGT PLPP6 SLC41A1 SLC41A2 TMEM31
Entrez ID		1203
HPRD ID		07619
Ensembl ID		ENSG00000102805
Uniprot IDs		A0A1B0GTR6 O75503
PDB IDs		6R99
Enriched GO Terms of Interacting Partners?		Farnesyl Diphosphate Metabolic Process Inorganic Cation Transmembrane Transporter Activity Magnesium Ion Transport Magnesium Ion Transmembrane Transport Magnesium Ion Transmembrane Transporter Activity Monoatomic Cation Transmembrane Transporter Activity Insulin Receptor Binding Cholesterol Biosynthetic Process Sterol Biosynthetic Process Squalene Synthase [NAD(P)H] Activity Protein N-acetylglucosaminyltransferase Complex Negative Regulation Of Non-canonical Inflammasome Complex Assembly Isoprenoid Diphosphate Phosphatase Activity Farnesyl Diphosphate Catabolic Process Geranylgeranyl Diphosphate Catabolic Process Regulation Of Insulin Receptor Signaling Pathway Terpenoid Metabolic Process Steroid Biosynthetic Process Nickel Cation Transport Magnesium:sodium Antiporter Activity Regulation Of Glucose Metabolic Process Isoprenoid Metabolic Process Cholesterol Metabolic Process Hormone Activity Protein O-acetylglucosaminyltransferase Activity Geranyl Diphosphate Metabolic Process Positive Regulation Of Neutrophil Activation Sterol Metabolic Process Regulation Of Generation Of Precursor Metabolites And Energy Embryonic Placenta Morphogenesis Transferase Activity, Transferring Alkyl Or Aryl (other Than Methyl) Groups Positive Regulation Of Skeletal Muscle Tissue Growth Positive Regulation Of Transcription From RNA Polymerase II Promoter By Glucose Non-canonical Inflammasome Complex Assembly Positive Regulation Of Transcription By Glucose Regulation Of Transcription From RNA Polymerase II Promoter By Glucose Intracellular Magnesium Ion Homeostasis Cellular Response To Magnesium Ion Lipid Phosphatase Activity Sphingosine-1-phosphate Phosphatase Activity Regulation Of Skeletal Muscle Tissue Growth Carbon Catabolite Regulation Of Transcription Lysophosphatidic Acid Phosphatase Activity Cobalt Ion Transport Regulation Of Transcription By Glucose Protein Prenylation Exocrine Pancreas Development NSL Complex Regulation Of Neutrophil Activation
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