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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000086 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001042432 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001286104 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_001286105 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_001286109 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_001286110 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 6, mRNA. GenEZ ORF Cloning On-demand $549.00 14

*Business Day

Related Services

Gene Symbol CLN3
Entrez Gene ID 1201
Full Name ceroid-lipofuscinosis, neuronal 3
Synonyms BTS, JNCL
General protein information
Preferred Names
battenin
Names
battenin
batten disease protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

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, Jul 2008].
Disorder

MIM: 607042

Ceroid-lipofuscinosis, neuronal-3, juvenile, 204200 (3)

mRNA Protein Product Sequence Price Select
NM_000086, 109698602 NP_000077, 4502889 battenin isoform a ORF Sequence $360.00
NM_001042432, 109698600 NP_001035897, 109698601 battenin isoform a ORF Sequence $360.00
NM_001286104, 554790409 NP_001273033, 554790410 battenin isoform b ORF Sequence $400.00
NM_001286105, 554790411 NP_001273034, 554790412 battenin isoform c ORF Sequence $400.00
NM_001286109, 554790413 NP_001273038, 554790414 battenin isoform d ORF Sequence $400.00
NM_001286110, 554790415 NP_001273039, 554790416 battenin isoform e ORF Sequence $400.00
KEGG
hsa04142Lysosome
Homo sapiens (human)CLN3NP_001035897.1
Canis lupus familiaris (dog)CLN3NP_001013435.1
Bos taurus (cattle)CLN3NP_001068642.2
Mus musculus (house mouse)Cln3NP_034037.3
Rattus norvegicus (Norway rat)Cln3NP_001006972.1
Danio rerio (zebrafish)cln3NP_001007307.1
Drosophila melanogaster (fruit fly)cln3NP_649011.1
Caenorhabditis eleganscln-3.2NP_491556.1
Caenorhabditis eleganscln-3.1NP_001256315.1
Caenorhabditis eleganscln-3.3NP_505237.1
Xenopus (Silurana) tropicalis (western clawed frog)cln3XP_004919824.1
Process
IDNameEvidence
GO:0000046autophagic vacuole fusionISS
GO:0001508action potentialISS
GO:0001575globoside metabolic processIMP
GO:0006520cellular amino acid metabolic processISS
GO:0006672ceramide metabolic processIDA
GO:0006678glucosylceramide metabolic processIMP
GO:0006681galactosylceramide metabolic processIMP
GO:0006684sphingomyelin metabolic processIMP
GO:0006898receptor-mediated endocytosisIMP
GO:0007034vacuolar transportIBA
GO:0007040lysosome organizationISS
GO:0007042lysosomal lumen acidificationIMP
GO:0008219cell deathIEA
GO:0008306associative learningISS
GO:0015809arginine transportIDA
GO:0016236macroautophagyNAS
GO:0016242negative regulation of macroautophagyISS
GO:0016485protein processingISS
GO:0030163protein catabolic processNAS
GO:0035235ionotropic glutamate receptor signaling pathwayISS
GO:0035752lysosomal lumen pH elevationIDA
GO:0042133neurotransmitter metabolic processISS
GO:0042987amyloid precursor protein catabolic processIDA
GO:0043066negative regulation of apoptotic processIMP
GO:0043086negative regulation of catalytic activityISS
GO:0043524negative regulation of neuron apoptotic processISS
GO:0045861negative regulation of proteolysisISS
GO:0047496vesicle transport along microtubuleIMP
GO:0050885neuromuscular process controlling balanceISS
GO:0051480cytosolic calcium ion homeostasisISS
GO:0061024membrane organizationISS
Component
IDNameEvidence
GO:0000139Golgi membraneIDA
GO:0005634nucleusIDA
GO:0005737cytoplasmIDA
GO:0005739mitochondrionTAS
GO:0005764lysosomeIDA
GO:0005765lysosomal membraneIDA
GO:0005769early endosomeIDA
GO:0005770late endosomeIDA
GO:0005770late endosomeISS
GO:0005776autophagic vacuoleISS
GO:0005783endoplasmic reticulumIDA
GO:0005794Golgi apparatusIDA
GO:0005795Golgi stackIDA
GO:0005802trans-Golgi networkIDA
GO:0005886plasma membraneIDA
GO:0005901caveolaIDA
GO:0008021synaptic vesicleIDA
GO:0016021integral component of membraneIDA
GO:0030176integral component of endoplasmic reticulum membraneIDA
GO:0043005neuron projectionIDA
GO:0045121membrane raftIDA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0051082unfolded protein bindingTAS
GeneCards CLN3
UniProt Q13286, B4DFF3, B4DMY6, Q2TA70, B4DXL3
Vega OTTHUMG00000097024
MIM 607042
Ensembl ENSG00000188603
HGNC 2074
HPRD 08450

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the CLN3 gene?

The CLN3 gene provides instructions for making a protein that is found in the membranes of multiple cellular structures, but whose function is not completely understood. Researchers have proposed several potential functions for the CLN3 protein, including protein transport (trafficking), cell-to-cell communication, and the transmission of chemical signals. The CLN3 protein may also be involved in the organization of the cell's structural framework (cytoskeleton), movement of cell structures, and in the self-destruction of cells (apoptosis). Additionally, the CLN3 protein appears to be important for the normal function of cell structures call lysosomes. Lysosomes are compartments in the cell that normally break down toxic substances and recycle different types of molecules. Researchers propose that the CLN3 protein may help regulate the size and relative acidity (pH) of lysosomes.

Interactant

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