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CLN6 cDNA ORF clone, Homo sapiens (human)

Gene Symbol CLN6
Entrez Gene ID 54982
Full Name ceroid-lipofuscinosis, neuronal 6, late infantile, variant
Synonyms CLN4A, HsT18960, nclf
General protein information
Preferred Names
ceroid-lipofuscinosis neuronal protein 6
Names
ceroid-lipofuscinosis neuronal protein 6
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

15

15q23

Summary This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]. lac of sum
Disorder MIM:

606725

Disorder Html: Ceroid-lipofuscinosis, neuronal-6, variant late infantile, 601780

mRNA and Protein(s)

mRNA Protein Name
NM_017882 NP_060352 ceroid-lipofuscinosis neuronal protein 6


Homo sapiens (human) CLN6 NP_060352.1
Canis lupus familiaris (dog) CLN6 NP_001011888.1
Bos taurus (cattle) CLN6 NP_001103454.1
Mus musculus (house mouse) Cln6 NP_001028347.1
Rattus norvegicus (Norway rat) Cln6 NP_001178723.1
Gallus gallus (chicken) CLN6 NP_001264557.1
Danio rerio (zebrafish) cln6a NP_001005982.1
Xenopus (Silurana) tropicalis (western clawed frog) cln6 NP_001120230.1


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

The following CLN6 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the CLN6 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu26286
NM_017882 Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$154.50-$216.30
$309.00
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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu26286
Clone ID Related Accession (Same CDS sequence) NM_017882
Accession Version NM_017882.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 936bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product ceroid-lipofuscinosis neuronal protein 6
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BM149330.1, AK027604.1, BC013130.1, CN427564.1, BC010849.1 and CA446197.1. This sequence is a reference standard in the RefSeqGene project. On Oct 17, 2008 this sequence version replaced gi:8923531. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK000568.1, AK027604.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGGAGGCGA CGCGGAGGCG GCAGCACCTG GGAGCGACGG GCGGCCCAGG CGCGCAGCTG 
GGCGCCTCCT TCCTGCAGGC CAGGCATGGC TCTGTGAGCG CTGATGAGGC TGCCCGCACG
GCTCCCTTCC ACCTCGACCT CTGGTTCTAC TTCACACTGC AGAACTGGGT TCTGGACTTT
GGGCGTCCCA TTGCCATGCT GGTATTCCCT CTCGAGTGGT TTCCACTCAA CAAGCCCAGT
GTTGGGGACT ACTTCCACAT GGCCTACAAC GTCATCACGC CCTTTCTCTT GCTCAAGCTC
ATCGAGCGGT CCCCCCGCAC CCTGCCACGC TCCATCACGT ACGTGAGCAT CATCATCTTC
ATCATGGGTG CCAGCATCCA CCTGGTGGGT GACTCTGTCA ACCACCGCCT GCTCTTCAGT
GGCTACCAGC ACCACCTGTC TGTCCGTGAG AACCCCATCA TCAAGAATCT CAAGCCGGAG
ACGCTGATCG ACTCCTTTGA GCTGCTCTAC TATTATGATG AGTACCTGGG TCACTGCATG
TGGTACATCC CCTTCTTCCT CATCCTCTTC ATGTACTTCA GCGGCTGCTT TACTGCCTCT
AAAGCTGAGA GCTTGATTCC AGGGCCTGCC CTGCTCCTGG TGGCACCCAG TGGCCTGTAC
TACTGGTACC TGGTCACCGA GGGCCAGATC TTCATCCTCT TCATCTTCAC CTTCTTCGCC
ATGCTGGCCC TCGTCCTGCA CCAGAAGCGC AAGCGCCTCT TCCTGGACAG CAACGGCCTC
TTCCTCTTCT CCTCCTTCGC ACTGACCCTC TTGCTTGTGG CGCTCTGGGT CGCCTGGCTG
TGGAATGACC CTGTTCTCAG GAAGAAGTAC CCGGGTGTCA TCTACGTCCC TGAGCCCTGG
GCTTTCTACA CCCTTCACGT CAGCAGTCGG CACTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_060352.1
CDS159..1094
Misc Feature(1)240..1088(+)
Misc Feature(2)249..251(+)
Misc Feature(3)249..251(+)
Misc Feature(4)324..386(+)
Misc Feature(5)399..461(+)
Misc Feature(6)489..551(+)
Misc Feature(7)693..755(+)
Misc Feature(8)768..830(+)
Misc Feature(9)831..893(+)
Misc Feature(10)936..998(+)
Exon (1)1..241
Gene:CLN6
Gene Synonym:
Exon (2)242..356
Gene:CLN6
Gene Synonym:
Exon (3)357..455
Gene:CLN6
Gene Synonym:
Exon (4)456..644
Gene:CLN6
Gene Synonym:
Exon (5)645..700
Gene:CLN6
Gene Synonym:
Exon (6)701..823
Gene:CLN6
Gene Synonym:
Exon (7)824..2242
Gene:CLN6
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_017882
Organism Homo sapiens (human)
Definition Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_017882

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGGAGGCGA CGCGGAGGCG GCAGCACCTG GGAGCGACGG GCGGCCCAGG CGCGCAGCTG 
GGCGCCTCCT TCCTGCAGGC CAGGCATGGC TCTGTGAGCG CTGATGAGGC TGCCCGCACG
GCTCCCTTCC ACCTCGACCT CTGGTTCTAC TTCACACTGC AGAACTGGGT TCTGGACTTT
GGGCGTCCCA TTGCCATGCT GGTATTCCCT CTCGAGTGGT TTCCACTCAA CAAGCCCAGT
GTTGGGGACT ACTTCCACAT GGCCTACAAC GTCATCACGC CCTTTCTCTT GCTCAAGCTC
ATCGAGCGGT CCCCCCGCAC CCTGCCACGC TCCATCACGT ACGTGAGCAT CATCATCTTC
ATCATGGGTG CCAGCATCCA CCTGGTGGGT GACTCTGTCA ACCACCGCCT GCTCTTCAGT
GGCTACCAGC ACCACCTGTC TGTCCGTGAG AACCCCATCA TCAAGAATCT CAAGCCGGAG
ACGCTGATCG ACTCCTTTGA GCTGCTCTAC TATTATGATG AGTACCTGGG TCACTGCATG
TGGTACATCC CCTTCTTCCT CATCCTCTTC ATGTACTTCA GCGGCTGCTT TACTGCCTCT
AAAGCTGAGA GCTTGATTCC AGGGCCTGCC CTGCTCCTGG TGGCACCCAG TGGCCTGTAC
TACTGGTACC TGGTCACCGA GGGCCAGATC TTCATCCTCT TCATCTTCAC CTTCTTCGCC
ATGCTGGCCC TCGTCCTGCA CCAGAAGCGC AAGCGCCTCT TCCTGGACAG CAACGGCCTC
TTCCTCTTCT CCTCCTTCGC ACTGACCCTC TTGCTTGTGG CGCTCTGGGT CGCCTGGCTG
TGGAATGACC CTGTTCTCAG GAAGAAGTAC CCGGGTGTCA TCTACGTCCC TGAGCCCTGG
GCTTTCTACA CCCTTCACGT CAGCAGTCGG CACTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family
Indian J Pediatr 80 (8), 694-696 (2013)
Bouhouche A, Regragui W, El Fahime E, Bouslam N, Tazi-Ahnini R, Melloul M, Benomar A and Yahyaoui M.


book

Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies
Am J Psychiatry 170 (2), 207-217 (2013)


book

Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy
Pediatr. Neurol. 47 (3), 205-208 (2012)
Andrade DM, Paton T, Turnbull J, Marshall CR, Scherer SW and Minassian BA.


book

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6
Am. J. Hum. Genet. 88 (5), 566-573 (2011)
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M and Berkovic SF.


book

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
Am. J. Hum. Genet. 70 (2), 537-542 (2002)
Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE and Mole SE.


book

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)
Eur. J. Biochem. 268 (22), 5851-5856 (2001)
Holopainen JM, Saarikoski J, Kinnunen PK and Jarvela I.


book

Batten's disease: clues to neuronal protein catabolism in lysosomes
J. Neurosci. Res. 60 (2), 133-140 (2000)
Dawson G and Cho S.


book

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23
Hum. Mol. Genet. 6 (4), 591-595 (1997)
Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, Gardiner RM and Williams RE.


book

Neuronal Ceroid-Lipofuscinoses
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Mole,S.E. and Williams,R.E.


book

Dystonia Overview
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Klein,C., Marras,C. and Munchau,A.


 
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