CLN3 ceroid-lipofuscinosis, neuronal 3 [Homo sapiens (human)]

Gene Symbol	CLN3
Entrez Gene ID	1201
Full Name	ceroid-lipofuscinosis, neuronal 3
Synonyms	BTS, JNCL, MGC102840
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:16 Map Location:16p12.1
Summary	This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq].
Disorder	MIM: 607042 Ceroid-lipofuscinosis, neuronal-3, juvenile, 204200 (3)

KEGG

hsa04142

Lysosome

Homo sapiens (human)	CLN3	NP_000077.1
Canis lupus familiaris (dog)	CLN3	NP_001013435.1
Mus musculus (house mouse)	Cln3	NP_034037.2
Rattus norvegicus (Norway rat)	Cln3	NP_001006972.1
Danio rerio (zebrafish)	zgc:92244	NP_001007307.1
Drosophila melanogaster (fruit fly)	cln3	NP_649011.1
Caenorhabditis elegans	cln-3.2	NP_491556.1
Caenorhabditis elegans	cln-3.3	NP_505237.1
Caenorhabditis elegans	cln-3.1	NP_505859.1

Process

ID	Name	Evidence
GO:0000046	autophagic vacuole fusion	ISS
GO:0001508	regulation of action potential	ISS
GO:0001575	globoside metabolic process	IMP
GO:0006457	protein folding	TAS
GO:0006520	cellular amino acid metabolic process	ISS
GO:0006672	ceramide metabolic process	IDA
GO:0006678	glucosylceramide metabolic process	IMP
GO:0006681	galactosylceramide metabolic process	IMP
GO:0006684	sphingomyelin metabolic process	IMP
GO:0006865	amino acid transport	IEA
GO:0006898	receptor-mediated endocytosis	IMP
GO:0007034	vacuolar transport	ISS
GO:0007040	lysosome organization	ISS
GO:0007042	lysosomal lumen acidification	IMP
GO:0008219	cell death	IEA
GO:0008306	associative learning	ISS
GO:0015809	arginine transport	IDA
GO:0016044	cellular membrane organization	ISS
GO:0016236	macroautophagy	NAS
GO:0016242	negative regulation of macroautophagy	ISS
GO:0016485	protein processing	ISS
GO:0030163	protein catabolic process	NAS
GO:0035235	ionotropic glutamate receptor signaling pathway	ISS
GO:0035752	lysosomal lumen pH elevation	IDA
GO:0042133	neurotransmitter metabolic process	ISS
GO:0042987	amyloid precursor protein catabolic process	IDA
GO:0043066	negative regulation of apoptosis	IMP
GO:0043086	negative regulation of catalytic activity	ISS
GO:0043524	negative regulation of neuron apoptosis	ISS
GO:0045861	negative regulation of proteolysis	ISS
GO:0050885	neuromuscular process controlling balance	ISS
GO:0051480	cytosolic calcium ion homeostasis	ISS

Component

ID	Name	Evidence
GO:0000139	Golgi membrane	IDA
GO:0005624	membrane fraction	IDA
GO:0005634	nucleus	IDA
GO:0005737	cytoplasm	IDA
GO:0005739	mitochondrion	TAS
GO:0005764	lysosome	IDA
GO:0005765	lysosomal membrane	IDA
GO:0005769	early endosome	IDA
GO:0005770	late endosome	ISS
GO:0005776	autophagic vacuole	ISS
GO:0005783	endoplasmic reticulum	IDA
GO:0005794	Golgi apparatus	IDA
GO:0005795	Golgi stack	IDA
GO:0005802	trans-Golgi network	IDA
GO:0005886	plasma membrane	IDA
GO:0005901	caveola	IDA
GO:0008021	synaptic vesicle	IDA
GO:0016021	integral to membrane	IDA
GO:0030176	integral to endoplasmic reticulum membrane	IDA
GO:0043005	neuron projection	IDA
GO:0044433	cytoplasmic vesicle part	IEA
GO:0045121	membrane raft	IDA

Function

ID	Name	Evidence
GO:0005515	protein binding	IPI
GO:0048306	calcium-dependent protein binding	IEA
GO:0051082	unfolded protein binding	TAS

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RefSeq Accession	Definition	Sequence	Price	Select
NM_001042432	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA.	Full Length	$555.35
NM_001042432		ORF Sequence	$381.93
NM_000086	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	Full Length	$544.91
NM_000086		ORF Sequence	$381.93