RS1 Gene

Aliases
for RS1 gene

Previous GC identifers: GC0XM018202 GC0XM017324 GC0XM017860 GC0XM018019 GC0XM018417 GC0XM016411

Summaries
for RS1 gene

Genomic Views
for RS1 gene

RefSeq DNA sequence:

NC_000023.10  NC_018934.1  NT_167197.1  

SwitchGear Promoter luciferase reporter plasmid: RS1 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RS1

RS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM018567:  view genomic region     (about GC identifiers)

Proteins
for RS1 gene

Explore the universe of human proteins at neXtProt for RS1: NX_O15537

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: RS1 OriGene Protein Over-expression Lysate: RS1 OriGene Custom Protein Services for RS1
	GenScript Custom Purified and Recombinant Proteins Services for RS1
	Novus Biologicals RS1 Protein Novus Biologicals RS1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for RS1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	Browse OriGene Antibodies OriGene Custom Antibody Services for RS1
	GenScript Custom Superior Antibodies Services for RS1
	Novus Biologicals RS1 Antibodies
	Search for Antibodies for RS1 at Abcam
	Uscn Antibodies for RS1
	Search ThermoFisher Antibodies for RS1

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for RS1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for RS1

Protein Domains /
Families
for RS1 gene

ProtoNet protein and cluster: O15537

Function
for RS1 gene

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RS1
		8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate RS1 (see all 30):
		hsa-miR-124* hsa-miR-579 hsa-miR-676 hsa-miR-607 hsa-miR-328 hsa-miR-125a-5p hsa-miR-15a hsa-miR-575
		SwitchGear 3'UTR luciferase reporter plasmid: RS1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RS1 (see all 7) OriGene shRNA RFP: RS1 OriGene siRNA: RS1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RS1

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for RS1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RS1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RS1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: RS1 (NM_005544)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RS1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RS1
		Search LifeMap BioReagents cell lines for RS1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RS1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

(inferred from 3 alleles) (MGI details for Rs1)

Pathways & Interactions
for RS1 gene

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

Drugs & Compounds
for RS1 gene

Transcripts
for RS1 gene

Expression
for RS1 gene

RS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCAAGAGCAC

1 LifeMap In Vivo Development Anatomical Compartment/Cell
	Tissue Anatomical Compartment Cell			Category (developmental path)
	EyeOuter Nuclear LayerMature Rod Cells			Photoreceptors, Retina
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RS1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RS1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RS1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RS1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RS1

Orthologs
for RS1 gene

Paralogs
for RS1 gene

Paralogs for RS1 gene

EDIL3²  DCBLD1²  NRP2²  MFGE8²  NRP1²  DCBLD2²  

9 SIMAP similar genes for RS1 using alignment to 3 protein entries:     XLRS1_HUMAN (see all proteins):

MFGE8    F8A1    F8    F5    F8C    NRP2

SPAG10    EDIL3    DCBLD2

RS1 for paralogs           About GeneDecksing

Genomic Variants
for RS1 gene

10/491 NCBI SNPs in RS1 are shown (see all 491)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1048949291,2	C	pathogenic	18660132(+)	GGCACA/GCTTGC	4	R C	mis1 int1		0	--	--	--	--
rs1048949301,2	C	pathogenic	18660191(+)	CCAGCA/GGGATG	4	P L	int1 mis1		0	--	--	--	--
rs1048949341,2	C	pathogenic	18665312(+)	TTACCA/C/GAAAGC	5	R G W	mis1 int1		0	--	--	--	--
rs617520681,2	C	pathogenic	18665332(+)	TGAGCC/TGGGCC	4	Q R	int1 mis1		0	--	--	--	--
rs617520671,2	C	pathogenic	18665333(+)	GAGCCA/GGGCCT	4	R W	mis1 int1		0	--	--	--	--
rs617520631,2	C	pathogenic	18665351(+)	AGTCCA/GCGAAG	4	R W	mis1 int1		0	--	--	--	--
rs1048949331,2	C	pathogenic	18665416(+)	CCTCCA/CCTGAC	4	G V	int1 mis1		0	--	--	--	--
rs1048949321,2	C	pathogenic	18665421(+)	CCTGAC/GTCGAA	4	D E	mis1 int1		0	--	--	--	--
rs1048949351,2	C	pathogenic	18690151(-)	ACTTCC/TCTTTG	2	P L	mis1		0	--	--	--	--
rs1874467831,2		--	18657788(+)	TGAAAA/GCACAC	3	--	int1 ds5001		0	--	--	--	--

HapMap Linkage Disequilibrium report for RS1 (18657808 - 18690229 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for RS1
     1 CNV: 7775
Human Gene Mutation Database (HGMD): RS1

Locus Specific Mutation Databases (LSDB): RS1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RS1

DNA2.0 Custom Variant and Variant Library Synthesis for RS1

Disorders / Diseases
for RS1 gene

20/21 diseases for RS1

7 Novoseek disease relationships for RS1 gene    About this table

Publications
for RS1 gene

PubMed articles for RS1 gene, integrated from 9 sources (see all 125): (articles sorted by number of sources associating them with RS1)

Utopia: connect your pdf to the dynamic world of online information

1. Positional cloning of the gene associated with X-linked juvenile retinoschisis. (PubMed id 9326935)^{1, 2, 3, 9} Sauer C.G.... Weber B.H. (1997)
2. Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complex. (PubMed id 17804407)^{1, 3, 9} Molday L.L....Molday R.S. (2007)
3. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. (PubMed id 10915776)^{1, 2, 9} Grayson C....Trump D. (2000)
4. Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. (PubMed id 17615541)^{1, 2, 9} Li X....Tao Y. (2007)
5. Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. (PubMed id 10533068)^{1, 2, 9} Hiriyanna K.T.... Sieving P.A. (1999)
6. Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene. (PubMed id 9760195)^{1, 2, 9} Hotta Y.... Azuma N. (1998)
7. Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. (PubMed id 10220153)^{1, 2, 9} Mashima Y.... Shimizu N. (1999)
8. Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis. (PubMed id 10079181)^{1, 2, 9} Shastry B.S.... Trese M.T. (1999)
9. Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. (PubMed id 10450864)^{1, 2, 9} Gehrig A.... Weber B.H. (1999)
10. Three widespread founder mutations contribute to high incidence of X- linked juvenile retinoschisis in Finland. (PubMed id 10234514)^{1, 2, 9} Huopaniemi L....Alitalo T. (1999)

External Searches for RS1 gene

Genome Databases showing RS1 gene

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Specialized Databases showing RS1 gene

Products
for RS1 gene