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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001042432 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_001042432.1, 109698600
Length 1915 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA.
Product battenin
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 longer transcript. Both variants 1 and 2 encode the same protein.

RefSeq NP_001035897.1
CDS 360..1676
Misc Feature(1)324..326
Misc Feature(2)324..326
Misc Feature(3)393..395
Misc Feature(4)393..395
Misc Feature(5)393..395
Misc Feature(6)399..401
Misc Feature(7)399..401
Misc Feature(8)468..1673
Misc Feature(9)471..533
Misc Feature(10)654..716
Misc Feature(11)741..803
Misc Feature(12)897..959
Misc Feature(13)993..1055
Misc Feature(14)1191..1253
Misc Feature(15)1431..1493
Misc Feature(16)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(255)-t, adbSNP:73533476
complement(359)-g, cdbSNP:201274333
complement(404)-t, cdbSNP:201824641
complement(533)-dbSNP:
complement(533)-g, adbSNP:138433617
complement(539)-g, adbSNP:150120797
complement(581)-g, adbSNP:201225986
complement(597)-dbSNP:
complement(597)-t, adbSNP:150348015
complement(601)-g, adbSNP:137906617
complement(609)-t, gdbSNP:201329358
complement(629)-g, adbSNP:145520962
complement(637)-t, cdbSNP:140409296
complement(672)-dbSNP:
complement(672)-g, adbSNP:11552531
complement(677)-g, adbSNP:148248159
complement(678)-g, adbSNP:149095062
complement(698)-t, cdbSNP:200356262
complement(717)-t, gdbSNP:145749864
complement(734)-dbSNP:
complement(734)-g, adbSNP:146076617
complement(738)-g, adbSNP:201168980
complement(751)-t, cdbSNP:144770450
complement(830)-dbSNP:
complement(830)-g, adbSNP:140670783
complement(854..855)-, gdbSNP:35832901
complement(875)-g, adbSNP:148846795
complement(896)-dbSNP:
complement(896)-g, adbSNP:147667964
complement(897)-t, cdbSNP:202215629
956+a, cdbSNP:267606737
complement(974)-g, adbSNP:145631076
complement(985)-g, adbSNP:139417824
complement(1008)-t, gdbSNP:150913606
complement(1029)-g, adbSNP:141508632
complement(1100)-dbSNP:
complement(1100)-g, adbSNP:148782327
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
complement(1190)-g, adbSNP:1142183
complement(1209)-dbSNP:
complement(1209)-g, adbSNP:201090501
complement(1242)-g, adbSNP:121434286
complement(1297)-dbSNP:
complement(1297)-g, adbSNP:141816714
complement(1318)-t, cdbSNP:138636923
complement(1334)-dbSNP:
complement(1334)-t, cdbSNP:150174473
complement(1361)-g, adbSNP:140828382
complement(1381)-t, cdbSNP:201271341
complement(1386)-g, adbSNP:201407601
complement(1392)-t, gdbSNP:150986176
complement(1430)-dbSNP:
complement(1430)-c, adbSNP:146467602
complement(1475)-g, adbSNP:142456044
complement(1491)-t, cdbSNP:147658282
complement(1517)-g, adbSNP:145340637
complement(1522)-g, adbSNP:148514847
complement(1569)-dbSNP:
complement(1569)-t, gdbSNP:146610181
complement(1570)-t, cdbSNP:77595156
complement(1572)-g, adbSNP:139842473
complement(1589)-t, cdbSNP:201206239
complement(1599)-t, cdbSNP:146124686
complement(1601)-t, cdbSNP:1064886
complement(1628)-t, cdbSNP:200719311
complement(1679)-t, gdbSNP:116985567
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:1064912
Gene SymbolCLN3
Gene SynonymBTS; JNCL
Chromosome16
Locus Map16p12.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000086 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA. In-stock $509.00 $460.00 12
NM_001042432 Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 1, mRNA. In-stock $509.00 $460.00 12
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,V.M. and Jalanko,A.
Journal Cell. Mol. Life Sci. 69 (12), 2075-2089 (2012)
Title The yeast Batten disease orthologue Btn1 controls endosome-Golgi retrograde transport via SNARE assembly .
Author Kama,R., Kanneganti,V., Ungermann,C. and Gerst,J.E.
Journal J. Cell Biol. 195 (2), 203-215 (2011)
Title Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers .
Author An Haack,K., Narayan,S.B., Li,H., Warnock,A., Tan,L. and Bennett,M.J.
Journal Biochim. Biophys. Acta 1810 (2), 186-191 (2011)
Title Distinct early molecular responses to mutations causing vLINCL and .
Author Cao,Y., Staropoli,J.F., Biswas,S., Espinola,J.A., MacDonald,M.E., Lee,J.M. and Cotman,S.L.
Journal PLoS ONE 6 (2), E17118 (2011)
Title Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci .
Author Franke,A., McGovern,D.P., Barrett,J.C., Wang,K., Radford-Smith,G.L., Ahmad,T., Lees,C.W., Balschun,T., Lee,J., Roberts,R., Anderson,C.A., Bis,J.C., Bumpstead,S., Ellinghaus,D., Festen,E.M., Georges,M., Green,T., Haritunians,T., Jostins,L., Latiano,A., Mathew,C.G., Montgomery,G.W., Prescott,N.J., Raychaudhuri,S., Rotter,J.I., Schumm,P., Sharma,Y., Simms,L.A., Taylor,K.D., Whiteman,D., Wijmenga,C., Baldassano,R.N., Barclay,M., Bayless,T.M., Brand,S., Buning,C., Cohen,A., Colombel,J.F., Cottone,M., Stronati,L., Denson,T., De Vos,M., D'Inca,R., Dubinsky,M., Edwards,C., Florin,T., Franchimont,D., Gearry,R., Glas,J., Van Gossum,A., Guthery,S.L., Halfvarson,J., Verspaget,H.W., Hugot,J.P., Karban,A., Laukens,D., Lawrance,I., Lemann,M., Levine,A., Libioulle,C., Louis,E., Mowat,C., Newman,W., Panes,J., Phillips,A., Proctor,D.D., Regueiro,M., Russell,R., Rutgeerts,P., Sanderson,J., Sans,M., Seibold,F., Steinhart,A.H., Stokkers,P.C., Torkvist,L., Kullak-Ublick,G., Wilson,D., Walters,T., Targan,S.R., Brant,S.R., Rioux,J.D., D'Amato,M., Weersma,R.K., Kugathasan,S., Griffiths,A.M., Mansfield,J.C., Vermeire,S., Duerr,R.H., Silverberg,M.S., Satsangi,J., Schreiber,S., Cho,J.H., Annese,V., Hakonarson,H., Daly,M.J. and Parkes,M.
Journal Nat. Genet. 42 (12), 1118-1125 (2010)
Title Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3 .
Author Mitchison,H.M., Munroe,P.B., O'Rawe,A.M., Taschner,P.E., de Vos,N., Kremmidiotis,G., Lensink,I., Munk,A.C., D'Arigo,K.L., Anderson,J.W., Lerner,T.J., Moyzis,R.K., Callen,D.F., Breuning,M.H., Doggett,N.A., Gardiner,R.M. and Mole,S.E.
Journal Genomics 40 (2), 346-350 (1997)
Title A model for Batten disease protein CLN3: functional implications from homology and mutations .
Author Janes,R.W., Munroe,P.B., Mitchison,H.M., Gardiner,R.M., Mole,S.E. and Wallace,B.A.
Journal FEBS Lett. 399 (1-2), 75-77 (1996)
Title Rapid diagnostic test for the major mutation underlying Batten disease .
Author Jarvela,I., Mitchison,H.M., Munroe,P.B., O'Rawe,A.M., Mole,S.E. and Syvanen,A.C.
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,P.E., de Vos,N., Thompson,A.D., Callen,D.F., Doggett,N., Mole,S.E., Dooley,T.P., Barth,P.G. and Breuning,M.H.
Journal Am. J. Hum. Genet. 56 (3), 663-668 (1995)
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,T.R., Pickle,W. II and Elting,J.J.
Journal Biochemistry 29 (44), 10213-10218 (1990)


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