RS1 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	RS1
Entrez Gene ID	6247
Full Name	retinoschisin 1
Synonyms	RS,XLRS1
General protein information	Preferred Names retinoschisin 1 Names retinoschisin X-linked juvenile retinoschisis protein
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: X Map Location: 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].
Disorder MIM:	300839
Disorder Html:	Retinoschisis, 312700 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_000330.3	NP_000321.1	retinoschisin precursor
NM_000330.4	NP_000321.1	retinoschisin precursor

Pathways from BioSystems

Homologies

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

Gene Ontology
Bibliography

Related articles in PubMed

Retinoschisin is linked to retinal Na/K-ATPase signaling and localization.
Pl?ssl K, Royer M, Bernklau S, Tavraz NN, Friedrich T, Wild J, Weber BHF, Friedrich U
Molecular biology of the cell28(16)2178-2189(2017 Aug)

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

Results suggest a regulatory effect of retinoschisin on Na/K-ATPase signaling and localization, whereas Na/K-ATPase-dysregulation caused by retinoschisin deficiency could represent an initial step in XLRS pathogenesis.
Title: Retinoschisin is linked to retinal Na/K-ATPase signaling and localization.

Taken together, RS1 mutation was found to segregate with retinoschisis phenotype while none of the other identified variations were co-segregating with the systemic defects. Hereby, we infer that the multisystemic defects harbored by the patient are a rare coexistence of XLRS, developmental delay, sensorineural hearing loss, and reduced axial tone reported for the first time in the literature.
Title: Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss.

these findings support distinct mechanisms of pathology for two classes of X-linked retinoschisis -associated mutations in the retinoschisin assembly.
Title: Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.

These results establish that extracellular delivery of RS1 rescues the structural and functional deficits in the Rs1h knockout mouse model and that this ex vivo gene therapy approach can inhibit progression of disease.
Title: An ex vivo gene therapy approach in X-linked retinoschisis.

A novel RS1 (304C > T) mutation in a Taiwanese family with X-linked retinoschisis.
Title: The gene mutation in a Taiwanese family with X-linked retinoschisis.

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	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu18101	NM_000330.4 Latest version!	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
View Old Accession Versions >>
OHu18101	NM_000330.3	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
Hide Old Accession Versions >>

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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.

Reference Sequences (Refseq)

RS1 ( NM_000330.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_000321.1 Homo sapiens retinoschisin 1 (RS1), mRNA.

Price & Availability↑

CloneID	OHu18101
Clone ID Related Accession (Same CDS sequence)	NM_000330.3 , NM_000330.4
Accession Version	NM_000330.3	Documents for ORF clone product in default 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
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-05-27
Organism	Homo sapiens(human)
Product	retinoschisin precursor
Comment	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 NM_000330.2. 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## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

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
CDS	36..710
Translation	MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA

Target ORF information:

RefSeq Version	NM_000330.3
Organism	Homo sapiens(human)
Definition	Homo sapiens retinoschisin 1 (RS1), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000330.3

ORF Insert Sequence:

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.

RS1 ( NM_000330.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_000321.1 Homo sapiens retinoschisin 1 (RS1), mRNA.

Price & Availability↑

CloneID	OHu18101
Clone ID Related Accession (Same CDS sequence)	NM_000330.3 , NM_000330.4
Accession Version	NM_000330.4 Latest version!	Documents for ORF clone product in default 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
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-09-14
Organism	Homo sapiens(human)
Product	retinoschisin precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from Z94056.1, DQ426892.1, AF014459.1, Z92542.2 and BQ185379.1. On Aug 31, 2019 this sequence version replaced NM_000330.3. 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] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

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
CDS	41..715
Translation	MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA

Target ORF information:

RefSeq Version	NM_000330.4
Organism	Homo sapiens(human)
Definition	Homo sapiens retinoschisin 1 (RS1), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000330.4

ORF Insert Sequence:

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.

PubMed

Retinoschisin is linked to retinal Na/K-ATPase signaling and localization.
Molecular biology of the cell28(16)2178-2189(2017 Aug)
Pl?ssl K,Royer M,Bernklau S,Tavraz NN,Friedrich T,Wild J,Weber BHF,Friedrich U

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RS1 cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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