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RS1 cDNA ORF clone, Homo sapiens (human)

Gene Symbol RS1
Entrez Gene ID 6247
Full Name retinoschisin 1
Synonyms RS, XLRS1
General protein information
Preferred Names
retinoschisin
Names
retinoschisin
X-linked juvenile retinoschisis protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp22.13

Summary This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]. lac of sum
Disorder MIM:

300839


mRNA and Protein(s)

mRNA Protein Name
NM_000330 NP_000321 retinoschisin precursor


Homo sapiens (human) RS1 NP_000321.1
Macaca mulatta (Rhesus monkey) RS1 XP_002806207.1
Canis lupus familiaris (dog) RS1 XP_548882.2
Mus musculus (house mouse) Rs1 NP_035432.3
Rattus norvegicus (Norway rat) Rs1 NP_001098113.1
Gallus gallus (chicken) RS1 NP_001128447.1
Danio rerio (zebrafish) rs1a NP_001003438.1
Xenopus (Silurana) tropicalis (western clawed frog) rs1 NP_001096319.1


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

The following RS1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the RS1 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
OHu18101
NM_000330 Homo sapiens retinoschisin 1 (RS1), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$49.50-$69.30
$99.00
Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone 30% OFF
2-4 Clone 40% OFF
5 or more Clone 50% OFF
All Other ORF Clones
30% OFF

*Business Day

** 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 OHu18101
Clone ID Related Accession (Same CDS sequence) NM_000330
Accession Version NM_000330.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 675bp)
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 retinoschisin precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DQ426892.1, AF014459.1, Z92542.2 and BQ185379.1. This sequence is a reference standard in the RefSeqGene project. On Sep 19, 2008 this sequence version replaced gi:56550120. 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 :: AF014459.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA2142363 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
ATGTCACGCA AGATAGAAGG CTTTTTGTTA TTACTTCTCT TTGGCTATGA AGCCACATTG 
GGATTATCGT CTACCGAGGA TGAAGGCGAG GACCCCTGGT ACCAAAAAGC ATGCAAGTGC
GATTGCCAAG GAGGACCCAA TGCTCTGTGG TCTGCAGGTG CCACCTCCTT GGACTGTATA
CCAGAATGCC CATATCACAA GCCTCTGGGT TTCGAGTCAG GGGAGGTCAC ACCGGACCAG
ATCACCTGCT CTAACCCGGA GCAGTATGTG GGCTGGTATT CTTCGTGGAC TGCAAACAAG
GCCCGGCTCA ACAGTCAAGG CTTTGGGTGT GCCTGGCTCT CCAAGTTCCA GGACAGTAGC
CAGTGGTTAC AGATAGATCT GAAGGAGATC AAAGTGATTT CAGGGATCCT CACCCAGGGG
CGCTGTGACA TCGATGAGTG GATGACCAAG TACAGCGTGC AGTACAGGAC CGATGAGCGC
CTGAACTGGA TTTACTACAA GGACCAGACT GGAAACAACC GGGTCTTCTA TGGCAACTCG
GACCGCACCT CCACGGTTCA GAACCTGCTG CGGCCCCCCA TCATCTCCCG CTTCATCCGC
CTCATCCCGC TGGGCTGGCA CGTCCGCATT GCCATCCGGA TGGAGCTGCT GGAGTGCGTC
AGCAAGTGTG CCTGA

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

RefSeq NP_000321.1
CDS36..710
Misc Feature(1)3..5(+)
Misc Feature(2)237..686(+)
Misc Feature(3)372..473(+)
Exon (1)1..87
Gene:RS1
Gene Synonym:
Exon (2)88..113
Gene:RS1
Gene Synonym:
Exon (3)114..219
Gene:RS1
Gene Synonym:
Exon (4)220..361
Gene:RS1
Gene Synonym:
Exon (5)362..557
Gene:RS1
Gene Synonym:
Exon (6)558..3026
Gene:RS1
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_000330
Organism Homo sapiens (human)
Definition Homo sapiens retinoschisin 1 (RS1), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000330

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
ATGTCACGCA AGATAGAAGG CTTTTTGTTA TTACTTCTCT TTGGCTATGA AGCCACATTG 
GGATTATCGT CTACCGAGGA TGAAGGCGAG GACCCCTGGT ACCAAAAAGC ATGCAAGTGC
GATTGCCAAG GAGGACCCAA TGCTCTGTGG TCTGCAGGTG CCACCTCCTT GGACTGTATA
CCAGAATGCC CATATCACAA GCCTCTGGGT TTCGAGTCAG GGGAGGTCAC ACCGGACCAG
ATCACCTGCT CTAACCCGGA GCAGTATGTG GGCTGGTATT CTTCGTGGAC TGCAAACAAG
GCCCGGCTCA ACAGTCAAGG CTTTGGGTGT GCCTGGCTCT CCAAGTTCCA GGACAGTAGC
CAGTGGTTAC AGATAGATCT GAAGGAGATC AAAGTGATTT CAGGGATCCT CACCCAGGGG
CGCTGTGACA TCGATGAGTG GATGACCAAG TACAGCGTGC AGTACAGGAC CGATGAGCGC
CTGAACTGGA TTTACTACAA GGACCAGACT GGAAACAACC GGGTCTTCTA TGGCAACTCG
GACCGCACCT CCACGGTTCA GAACCTGCTG CGGCCCCCCA TCATCTCCCG CTTCATCCGC
CTCATCCCGC TGGGCTGGCA CGTCCGCATT GCCATCCGGA TGGAGCTGCT GGAGTGCGTC
AGCAAGTGTG CCTGA

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

book

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis
Mol. Vis. 19, 2209-2216 (2013)
D'Souza L, Cukras C, Antolik C, Craig C, Lee JY, He H, Li S, Smaoui N, Hejtmancik JF, Sieving PA and Wang X.


book

A phenotype-genotype correlation study of X-linked retinoschisis
Ophthalmology 120 (7), 1454-1464 (2013)
Vincent A, Robson AG, Neveu MM, Wright GA, Moore AT, Webster AR and Holder GE.


book

Novel RS1 mutations associated with X-linked juvenile retinoschisis
Int. J. Mol. Med. 29 (4), 644-648 (2012)
Yi J, Li S, Jia X, Xiao X, Wang P, Guo X and Zhang Q.


book

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis
Mol. Vis. 18, 3004-3012 (2012)
Skorczyk A and Krawczynski MR.


book

In silico investigation of the disease-associated retinoschisin C110Y and C219G mutants
J. Biomol. Struct. Dyn. 29 (5), 937-959 (2012)
Wu JW and Liu HL.


book

Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis
Biochem. Biophys. Res. Commun. 256 (2), 317-319 (1999)
Shastry BS, Hejtmancik FJ and Trese MT.


book

Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene
Hum. Genet. 103 (2), 142-144 (1998)
Hotta Y, Fujiki K, Hayakawa M, Ohta T, Fujimaki T, Tamaki K, Yokoyama T, Kanai A, Hirakata A, Hida T, Nishina S and Azuma N.


book

Positional cloning of the gene associated with X-linked juvenile retinoschisis
Nat. Genet. 17 (2), 164-170 (1997)
Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B and Weber BH.


book

X-Linked Juvenile Retinoschisis
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Sieving,P.A., MacDonald,I.M., Meltzer,M.R. and Smaoui,N.


book

Refined localization of the gene causing X-linked juvenile retinoschisis
Genomics 9 (3), 505-510 (1991)
Alitalo T, Kruse TA and de la Chapelle A.


 
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