Cln3 - ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) Gene

Mus musculus

Gene ID: 12752 | Gene type: protein coding

About Cln3

Summary

This gene encodes a transmembrane protein called battenin that is involved in lysosomal function. Mutations in this, as well as Other neuronal ceroid-lipofuscinosis genes, cause a number of neurodegenerative diseases collectively known as neuronal ceroid lipofuscinoses, the most common of which is juvenile neuronal ceroid-lipofuscinosis (Batten disease). Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

Cln3 Products(11)

mRNA	Protein	Name
NM_001146311.3	NP_001139783.1	battenin isoform 1
NM_001329789.2	NP_001316718.1	battenin isoform 2
NM_001402715.1	NP_001389644.1	battenin isoform 1
NM_001402716.1	NP_001389645.1	battenin isoform 1
NM_001402717.1	NP_001389646.1	battenin isoform 1
NM_001402718.1	NP_001389647.1	battenin isoform 1
NM_001402719.1	NP_001389648.1	battenin isoform 1
NM_001402720.1	NP_001389649.1	battenin isoform 1
NM_001402721.1	NP_001389650.1	battenin isoform 2
NM_001402722.1	NP_001389651.1	battenin isoform 2
NM_009907.5	NP_034037.3	battenin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables calcium-dependent protein binding	IPI IPI: Inferred from physical interaction	17189291	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	17189291	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	24792215	MGI
acts upstream of or within action potential	IMP IMP: Inferred from mutant phenotype	16412658	MGI
acts upstream of or within amino acid transport	IMP IMP: Inferred from mutant phenotype	16412658	MGI
acts upstream of or within associative learning	IMP IMP: Inferred from mutant phenotype	15885820	MGI
acts upstream of or within autophagosome maturation	IMP IMP: Inferred from mutant phenotype	16714284	MGI
involved in autophagosome-lysosome fusion	IMP IMP: Inferred from mutant phenotype	26450516	MGI
acts upstream of or within blood vessel endothelial cell migration	IMP IMP: Inferred from mutant phenotype	24792215	MGI
acts upstream of or within endocytosis	IMP IMP: Inferred from mutant phenotype	24792215	MGI
acts upstream of or within establishment of localization in cell	IMP IMP: Inferred from mutant phenotype	24792215	MGI
involved in intracellular water homeostasis	IMP IMP: Inferred from mutant phenotype	20219947	MGI
acts upstream of or within ionotropic glutamate receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	16483786	MGI
involved in learning or memory	IMP IMP: Inferred from mutant phenotype	29135436	MGI
involved in lysosomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	10527801	MGI
acts upstream of or within lysosome organization	IMP IMP: Inferred from mutant phenotype	10191119	MGI
acts upstream of or within macroautophagy	IMP IMP: Inferred from mutant phenotype	16714284	MGI
acts upstream of or within membrane organization	IMP IMP: Inferred from mutant phenotype	15588329	MGI
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	10191118	MGI
acts upstream of or within negative regulation of catalytic activity	IMP IMP: Inferred from mutant phenotype	17868323	MGI
acts upstream of or within negative regulation of neuron apoptotic process	IDA IDA: Inferred from direct assay	17189291	MGI
acts upstream of or within negative regulation of proteolysis	IMP IMP: Inferred from mutant phenotype	10527801	MGI
acts upstream of or within neuromuscular process controlling balance	IMP IMP: Inferred from mutant phenotype	16483786	MGI
involved in phagosome-lysosome docking	IMP IMP: Inferred from mutant phenotype	26450516	MGI
involved in phagosome-lysosome fusion	IMP IMP: Inferred from mutant phenotype	26450516	MGI
involved in plasma membrane raft organization	IMP IMP: Inferred from mutant phenotype	24227717	MGI
involved in positive regulation of Golgi to plasma membrane protein transport	IMP IMP: Inferred from mutant phenotype	24227717	MGI
involved in positive regulation of caveolin-mediated endocytosis	IMP IMP: Inferred from mutant phenotype	24227717	MGI
involved in positive regulation of pinocytosis	IMP IMP: Inferred from mutant phenotype	24792215	MGI
acts upstream of or within positive regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	24792215	MGI
acts upstream of or within protein localization to membrane	IMP IMP: Inferred from mutant phenotype	24792215	MGI
acts upstream of or within protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	24792215	MGI
acts upstream of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	24792215	MGI
acts upstream of or within protein processing	IMP IMP: Inferred from mutant phenotype	15588329	MGI
involved in regulation of arginine biosynthetic process	IMP IMP: Inferred from mutant phenotype	19284480	MGI
involved in regulation of autophagosome maturation	IMP IMP: Inferred from mutant phenotype	26450516	MGI
involved in regulation of autophagosome size	IMP IMP: Inferred from mutant phenotype	25878248	MGI
involved in regulation of autophagy	IMP IMP: Inferred from mutant phenotype	27101989	MGI
acts upstream of or within regulation of cytosolic calcium ion concentration	IDA IDA: Inferred from direct assay	17189291	MGI
acts upstream of or within regulation of filopodium assembly	IMP IMP: Inferred from mutant phenotype	24792215	MGI
involved in regulation of modification of synaptic structure	IMP IMP: Inferred from mutant phenotype	29780879	MGI
involved in regulation of phagosome maturation	IMP IMP: Inferred from mutant phenotype	26450516	MGI
involved in regulation of protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	18621045	MGI
involved in regulation of short-term neuronal synaptic plasticity	IMP IMP: Inferred from mutant phenotype	29135436	MGI
involved in regulation of synaptic transmission, GABAergic	IMP IMP: Inferred from mutant phenotype	29135436	MGI
involved in regulation of synaptic transmission, glutamatergic	IMP IMP: Inferred from mutant phenotype	29135436	MGI
involved in renal potassium excretion	IMP IMP: Inferred from mutant phenotype	20219947	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in autolysosome	IDA IDA: Inferred from direct assay	16714284	MGI
located in autophagosome	IDA IDA: Inferred from direct assay	16714284	MGI
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	17189291	MGI
located in early endosome	IDA IDA: Inferred from direct assay	15588329	MGI
located in late endosome	IDA IDA: Inferred from direct assay	15588329	MGI
located in lysosome	IDA IDA: Inferred from direct assay	11590129	MGI
located in membrane raft	IDA IDA: Inferred from direct assay	24227717	MGI
located in neuron projection	IDA IDA: Inferred from direct assay	11590129	MGI
located in trans-Golgi network	IDA IDA: Inferred from direct assay	24227717	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

battenin

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02822	CLN3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22121	Cln3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28643	Cln3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Cln3	NCBI	NCBI:1201

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