CLN3

CLN3
Identifiers
Aliases	CLN3, BTS, JNCL, ceroid-lipofuscinosis, neuronal 3, battenin
External IDs	OMIM: 607042 MGI: 107537 HomoloGene: 37259 GeneCards: CLN3
Gene ontology Molecular function • unfolded protein binding • protein binding Cellular component • cytoplasm • integral component of membrane • endosome • late endosome • Golgi apparatus • membrane • synaptic vesicle • Golgi membrane • plasma membrane • autophagosome • lysosomal membrane • integral component of endoplasmic reticulum membrane • trans-Golgi network • early endosome • endoplasmic reticulum • mitochondrion • caveola • membrane raft • neuron projection • Golgi stack • lysosome • nucleus Biological process • negative regulation of neuron apoptotic process • negative regulation of proteolysis • arginine transport • lysosomal lumen acidification • negative regulation of catalytic activity • galactosylceramide metabolic process • associative learning • regulation of cytosolic calcium ion concentration • neuromuscular process controlling balance • ceramide metabolic process • vesicle transport along microtubule • cellular amino acid metabolic process • neurotransmitter metabolic process • protein processing • negative regulation of apoptotic process • receptor-mediated endocytosis • lysosomal lumen pH elevation • globoside metabolic process • glucosylceramide metabolic process • autophagosome maturation • protein catabolic process • ionotropic glutamate receptor signaling pathway • transport • action potential • membrane organization • lysosome organization • macroautophagy • amyloid precursor protein catabolic process • sphingomyelin metabolic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1201	12752
Ensembl	ENSG00000188603	ENSMUSG00000030720
UniProt	Q13286	Q61124
RefSeq (mRNA)	NM_001286110 NM_000086 NM_001042432 NM_001286104 NM_001286105 NM_001286109	NM_001146311 NM_009907 NM_001329789
RefSeq (protein)	NP_000077 NP_001035897 NP_001273033 NP_001273034 NP_001273038 NP_001273039	NP_001139783.1 NP_034037.3 NP_001139783 NP_001316718 NP_034037
Location (UCSC)	Chr 16: 28.48 – 28.5 Mb	Chr 7: 126.57 – 126.59 Mb
PubMed search

1201

12752

ENSG00000188603

ENSMUSG00000030720

Q13286

Q61124

NM_001286109

NM_001146311
NM_009907
NM_001329789

NP_001273039

NP_001139783.1
NP_034037.3
NP_001139783
NP_001316718
NP_034037

Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16.

Battenin is involved in lysosomal function. Many alternatively spliced transcript variants have been found for this gene.

Mutations in this gene, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease, also known as Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Juvenile Batten disease.

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Wikipedia