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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu16865 NM_001286110 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 6, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu16887 NM_001286105 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 4, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu25863 NM_000086 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu25863 NM_001042432 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu27575 NM_001286109 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 5, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu27581 NM_001286104 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu16865C NM_001286110 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 6, mRNA. Customized vector On-demand 7-9 $269.00
OHu16887C NM_001286105 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 4, mRNA. Customized vector On-demand 7-9 $269.00
OHu25863C NM_000086 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA. Customized vector In-stock 5-7 $149.00
OHu25863C NM_001042432 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. Customized vector In-stock 5-7 $149.00
OHu27575C NM_001286109 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 5, mRNA. Customized vector On-demand 7-9 $269.00
OHu27581C NM_001286104 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 3, mRNA. Customized vector On-demand 7-9 $269.00

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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?

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