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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu25863 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu25863C Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001042432.1, 109698600
Length 1317 bp
Structure linear
Update Date 24-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA.
Product battenin isoform a
Comment

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].


Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (a).

RefSeq NP_001035897.1
CDS 360..1676
Misc Feature(1)324..326
Misc Feature(2)393..395
Misc Feature(3)393..395
Misc Feature(4)399..401
Misc Feature(5)399..401
Misc Feature(6)468..1673
Misc Feature(7)471..533
Misc Feature(8)654..716
Misc Feature(9)741..803
Misc Feature(10)897..959
Misc Feature(11)993..1055
Misc Feature(12)1191..1253
Misc Feature(13)1431..1493
Misc Feature(14)1578..1640
Exon (1)1..283
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (2)284..405
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (3)406..484
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (4)485..581
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (5)582..653
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (6)654..733
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (7)734..819
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (8)820..892
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (9)893..1036
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (10)1037..1149
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (11)1150..1196
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (12)1197..1265
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (13)1266..1321
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (14)1322..1415
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (15)1416..1556
Gene:CLN3
Gene Synonym:BTS; JNCL
Exon (16)1557..1913
Gene:CLN3
Gene Synonym:BTS; JNCL
Translation MGGCAGSRRRFSDSEGEETVPEPRLPLLDHQGAHWKNAVGFWLLGLCNNFSYVVMLSAAH DILSHKRTSGNQSHVDPGPTPIPHNSSSRFDCNSVSTAAVLLADILPTLVIKLLAPLGLH LLPYSPRVLVSGICAAGSFVLVAFSHSVGTSLCGVVFASISSGLGEVTFLSLTAFYPRAV ISWWSSGTGGAGLLGALSYLGLTQAGLSPQQTLLSMLGIPALLLASYFLLLTSPEAQDPG GEEEAESAARQPLIRTEAPESKPGSSSSLSLRERWTVFKGLLWYIVPLVVVYFAEYFINQ GLFELLFFWNTSLSHAQQYRWYQMLYQAGVFASRSSLRCCRIRFTWALALLQCLNLVFLL ADVWFGFLPSIYLVFLIILYEGLLGGAAYVNTFHNIALETSDEHREFAMAATCISDTLGI SLSGLLALPLHDFLCQLS
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Position Chain Variation Link
complement(96)-dbSNP:
complement(96)-g, cdbSNP:187163584
complement(231)-g, cdbSNP:141305257
complement(246)-t, cdbSNP:369500373
complement(255)-t, adbSNP:73533476
complement(319)-dbSNP:
complement(319)-t, gdbSNP:370217726
complement(327)-t, gdbSNP:368494637
complement(359)-g, cdbSNP:201274333
360+a, cdbSNP:386833708
complement(388..389)-, cdbSNP:374055075
complement(404)-t, cdbSNP:201824641
408+dbSNP:
408+g, tdbSNP:386833726
464+a, gdbSNP:386833700
complement(533)-dbSNP:
complement(533)-g, adbSNP:138433617
complement(539)-g, adbSNP:150120797
573+c, tdbSNP:386833709
complement(581)-g, adbSNP:201225986
592..593+dbSNP:
592..593+, gdbSNP:386833712
complement(597)-t, adbSNP:150348015
complement(599)-t, cdbSNP:373911322
complement(601)-g, adbSNP:137906617
complement(603)-t, adbSNP:370020452
complement(609)-t, gdbSNP:201329358
624+c, tdbSNP:386833713
complement(629)-g, adbSNP:145520962
complement(637)-t, cdbSNP:140409296
complement(649)-g, adbSNP:376421578
complement(650)-t, cdbSNP:367945307
661+dbSNP:
661+c, tdbSNP:386833714
672+a, gdbSNP:11552531
complement(677)-g, adbSNP:148248159
complement(678)-g, adbSNP:149095062
complement(698)-t, cdbSNP:200356262
complement(717)-t, gdbSNP:145749864
complement(725)-t, cdbSNP:376960425
729..730+, tdbSNP:386833715
733+a, gdbSNP:386833716
complement(734)-dbSNP:
complement(734)-g, adbSNP:146076617
738..739+, ccdbSNP:386833717
738+, cdbSNP:386833718
complement(738)-g, adbSNP:201168980
complement(751)-t, cdbSNP:144770450
759+c, tdbSNP:386833719
complement(777)-t, cdbSNP:373034150
783+, gdbSNP:386833720
complement(795)-g, adbSNP:371590088
complement(830)-dbSNP:
complement(830)-g, adbSNP:140670783
831+c, gdbSNP:386833723
841+c, gdbSNP:386833724
844+c, gdbSNP:386833725
851..852+, gdbSNP:35832901
868+c, tdbSNP:386833727
complement(875)-g, adbSNP:148846795
complement(881)-g, adbSNP:371467190
complement(896)-dbSNP:
complement(896)-g, adbSNP:147667964
complement(897)-t, cdbSNP:202215629
917..918+, agdbSNP:386833729
919+c, gdbSNP:386833730
924+c, gdbSNP:386833731
928+, gdbSNP:386833732
934+a, gdbSNP:386833733
941+g, tdbSNP:386833734
945..946+, gdbSNP:386833735
956+a, cdbSNP:267606737
complement(974)-g, adbSNP:145631076
complement(975)-t, cdbSNP:370603922
981..982+, tdbSNP:386833736
complement(985)-g, adbSNP:139417824
990+c, tdbSNP:386833737
complement(1008)-t, gdbSNP:150913606
complement(1029)-g, adbSNP:141508632
complement(1052)-dbSNP:
complement(1052)-g, adbSNP:376590377
complement(1100)-g, adbSNP:148782327
complement(1108)-t, cdbSNP:374217931
complement(1127)-g, adbSNP:145967477
complement(1130)-t, cdbSNP:73533466
complement(1135)-g, adbSNP:137858807
complement(1141)-g, adbSNP:199627744
complement(1173)-dbSNP:
complement(1173)-g, adbSNP:113041302
complement(1174)-t, cdbSNP:145270402
1190+a, gdbSNP:1142183
complement(1190)-t, cdbSNP:386518174
complement(1209)-dbSNP:
complement(1209)-g, adbSNP:201090501
complement(1227)-t, cdbSNP:369008702
1242+a, g, tdbSNP:121434286
complement(1297)-dbSNP:
complement(1297)-g, adbSNP:141816714
1303..1304+, adbSNP:386833740
complement(1318)-t, cdbSNP:138636923
complement(1334)-dbSNP:
complement(1334)-t, cdbSNP:150174473
1338+c, tdbSNP:386833743
1347+g, tdbSNP:386833744
1359+c, tdbSNP:386833694
1360+a, gdbSNP:386833695
complement(1361)-g, adbSNP:140828382
complement(1381)-t, cdbSNP:201271341
complement(1386)-g, adbSNP:201407601
complement(1392)-t, adbSNP:150986176
1407+, cdbSNP:386833696
1413+c, tdbSNP:386833697
1415+c, gdbSNP:386833699
complement(1430)-dbSNP:
complement(1430)-c, adbSNP:146467602
complement(1445)-g, cdbSNP:376907245
complement(1446)-t, cdbSNP:370963882
complement(1456)-t, cdbSNP:371214018
complement(1457)-t, gdbSNP:367780407
complement(1475)-g, adbSNP:142456044
complement(1478)-g, adbSNP:376478363
complement(1491)-t, cdbSNP:147658282
complement(1517)-g, adbSNP:145340637
complement(1522)-g, adbSNP:148514847
complement(1526)-g, adbSNP:371025471
1554+g, tdbSNP:386833701
complement(1568)-dbSNP:
complement(1568)-t, cdbSNP:377369610
complement(1569)-t, gdbSNP:146610181
complement(1570)-t, cdbSNP:77595156
complement(1572)-g, adbSNP:139842473
complement(1588)-g, adbSNP:369801432
complement(1589)-t, cdbSNP:201206239
complement(1599)-t, cdbSNP:146124686
complement(1601)-t, cdbSNP:386514667
1601+c, tdbSNP:1064886
1606+a, gdbSNP:386833703
1627+a, cdbSNP:386833706
complement(1628)-t, cdbSNP:200719311
1631+, gdbSNP:386833707
complement(1679)-t, gdbSNP:116985567
complement(1696)-t, cdbSNP:369540789
complement(1702)-t, gdbSNP:201685501
complement(1731)-t, gdbSNP:199979207
complement(1734)-t, gdbSNP:142958639
complement(1775)-g, adbSNP:113845299
complement(1820)-t, cdbSNP:184662946
complement(1825)-g, adbSNP:145698326
complement(1831)-t, gdbSNP:113112766
complement(1886)-t, cdbSNP:386514668
1886+c, tdbSNP:1064912
complement(1912)-c, adbSNP:370999518
Gene SymbolCLN3
Gene SynonymBTS; JNCL
Chromosome16
Locus Map16p12.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001042432 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_001042432 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_001042432 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_001042432 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_001042432 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_001042432 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. In-stock $99.00 5-7
Title Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements .
Author Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, Zaneveld JE, Salvo JS, Siddiqui S, Mao L, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Wen C, Flagg K, Ferreyra H, Pei J, Khan A, Ren H, Wang K, Lopez I, Qamar R, Zenteno JC, Ayala-Ramirez R, Buentello-Volante B, Fu Q, Simpson DA, Li Y, Sui R, Silvestri G, Daiger SP, Koenekoop RK, Zhang K and Chen R.
Journal Hum. Genet. 133 (3), 331-345 (2014)
Title Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3 .
Author Getty A, Kovacs AD, Lengyel-Nelson T, Cardillo A, Hof C, Chan CH and Pearce DA.
Journal PLoS ONE 8 (6), E66203 (2013)
Title Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach .
Author Scifo E, Szwajda A, Debski J, Uusi-Rauva K, Kesti T, Dadlez M, Gingras AC, Tyynela J, Baumann MH, Jalanko A and Lalowski M.
Journal J. Proteome Res. 12 (5), 2101-2115 (2013)
Title Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments .
Author Uusi-Rauva K, Kyttala A, van der Kant R, Vesa J, Tanhuanpaa K, Neefjes J, Olkkonen VM and Jalanko A.
Journal Cell. Mol. Life Sci. 69 (12), 2075-2089 (2012)
Title A model for Batten disease protein CLN3: functional implications from homology and mutations .
Author Janes RW, Munroe PB, Mitchison HM, Gardiner RM, Mole SE and Wallace BA.
Journal FEBS Lett. 399 (1-2), 75-77 (1996)
Title Rapid diagnostic test for the major mutation underlying Batten disease .
Author Jarvela I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE and Syvanen AC.
Journal J. Med. Genet. 33 (12), 1041-1042 (1996)
Title Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease) .
Author Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG and Breuning MH.
Journal Am. J. Hum. Genet. 56 (3), 663-668 (1995)
Title Neuronal Ceroid-Lipofuscinoses .
Author Mole,S.E. and Williams,R.E.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Dystonia Overview .
Author Klein,C., Marras,C. and Munchau,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Characterization of two new members of the pregnancy-specific beta 1-glycoprotein family from the myeloid cell line KG-1 and suggestion of two distinct classes of transcription unit .
Author Barnett TR, Pickle W 2nd and Elting JJ.
Journal Biochemistry 29 (44), 10213-10218 (1990)

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