Free for academic non-profit institutions. Other users need a Commercial license
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 splittin... See more...
Aliases for RS1 Gene
Aliases for RS1 Gene
External Ids for RS1 Gene
- HGNC: 10457
- Entrez Gene: 6247
- Ensembl: ENSG00000102104
- OMIM: 300839
- UniProtKB: O15537
Previous HGNC Symbols for RS1 Gene
- RS
Previous GeneCards Identifiers for RS1 Gene
- GC0XM018202
- GC0XM017324
- GC0XM017860
- GC0XM018019
- GC0XM018417
- GC0XM016411
Summaries for RS1 Gene
-
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]
GeneCards Summary for RS1 Gene
RS1 (Retinoschisin 1) is a Protein Coding gene. Diseases associated with RS1 include Retinoschisis 1, X-Linked, Juvenile and Fundus Dystrophy. Among its related pathways are Immune response IL-23 signaling pathway. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is DCBLD1.
UniProtKB/Swiss-Prot Summary for RS1 Gene
-
Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells (PubMed:27114531). Required for normal structure and function of the retina (PubMed:19093009).
Additional gene information for RS1 Gene
- HGNC(10457)
- Entrez Gene(6247)
- Ensembl(ENSG00000102104)
- OMIM(300839)
- UniProtKB(O15537)
- Open Targets Platform(ENSG00000102104)
- Monarch Initiative
- Search for RS1 at DataMed
- Search for RS1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RS1 Gene
Genomics for RS1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RS1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ018672 | Promoter | 0.3 | EPDnew | 600.7 | 0.0 | -20 | 0.1 | RS1 PPEF1 TRV-TAC1-2 | ||
| GH0XJ018667 | Enhancer | 0.6 | ENCODE | 0.7 | +3.4 | 3420 | 0.7 | IKZF2 EED CEBPB RUNX3 MEF2D POLR2A HNF4A ATF2 TBX21 ZNF664 | RS1 RF00017-8194 CDKL5 | |
| GH0XJ018616 | Enhancer | 0.8 | Ensembl ENCODE | 0.2 | +54.2 | 54211 | 2.2 | SOX13 SP1 JUND TGIF2 FOSL2 SIN3A POLR2A NFIA TEAD3 SOX5 | piR-42789 KR153194-215 RS1 CDKL5 | |
| GH0XJ018640 | Enhancer | 0.6 | Ensembl ENCODE | 0.3 | +31.1 | 31138 | 0.9 | POLR2A NRF1 HLF | piR-42789 RF00017-8194 RS1 CDKL5 | |
| GH0XJ018621 | Enhancer | 0.6 | ENCODE | 0.2 | +51.4 | 51416 | 0.7 | FOXA1 EED SOX13 RFX1 RUNX3 CTBP1 TCF12 ZNF217 GATAD2B GATA3 | piR-42789 KR153194-215 RS1 CDKL5 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RS1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RS1
- Top Transcription factor binding sites by QIAGEN in the RS1 gene promoter:
-
- CREB
- deltaCREB
- GCNF
- GCNF-1
- GCNF-2
- PPAR-gamma1
- PPAR-gamma2
- RORalpha1
Genomic Locations for RS1 Gene
Genomic Locations for RS1 Gene
- chrX:18,639,688-18,672,108
- (GRCh38/hg38)
- Size:
- 32,421 bases
- Orientation:
- Minus strand
- chrX:18,657,808-18,690,229
- (GRCh37/hg19)
- Size:
- 32,422 bases
- Orientation:
- Minus strand
Genomic View for RS1 Gene
Genes around RS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.13 by HGNC
- Xp22.13 by Entrez Gene
- Xp22.13 by Ensembl
RS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RS1 Gene
Proteins for RS1 Gene
-
Protein details for RS1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15537-XLRS1_HUMAN
- Recommended name:
- Retinoschisin
- Protein Accession:
- O15537
- Q0QD39
Protein attributes for RS1 Gene
- Size:
- 224 amino acids
- Molecular mass:
- 25592 Da
- Quaternary structure:
-
- Homooctamer of 4 homodimers; disulfide-linked (PubMed:15644328, PubMed:19849666). The homooctamer has a flat, cogwheel structure with a diameter of about 14 nm (PubMed:27798099, PubMed:26812435, PubMed:27114531). Two stacked octamers can assemble to form a hexadecamer (PubMed:27798099, PubMed:26812435, PubMed:27114531).
Protein Expression for RS1 Gene
Post-translational modifications for RS1 Gene
Other Protein References for RS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-RS1 (full length) polyclonal antibody
- Novus Biologicals Antibodies for RS1
- Invitrogen Antibodies for RS1 (AFLGC-RS1)
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for RS1
- Origene Custom Protein Services for RS1
- antibodies-online: Show 7 available RS1 Proteins ranked by validation data
- Compare Top RS1 Proteins
-
Quality Products:
Assay Products
- antibodies-online: Show 7 available RS1 Elisa Kits ranked by validation data
- Compare Top RS1 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for RS1
No data available for DME Specific Peptides for RS1 Gene
Domains & Families for RS1 Gene
Gene Families for RS1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted secreted proteins
Protein Domains for RS1 Gene
- InterPro:
- Blocks:
-
- Coagulation factor 5/8 type C domain (FA58C)
- ProtoNet:
Suggested Antigen Peptide Sequences for RS1 Gene
- GenScript: Design optimal peptide antigens:
-
- Retinoschisin (A0MT07_HUMAN)
- Retinoschisis (Q0QD39_HUMAN)
- X-linked juvenile retinoschisis protein (XLRS1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RS1 Gene
Function for RS1 Gene
Molecular function for RS1 Gene
- UniProtKB/Swiss-Prot Function:
- Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells (PubMed:27114531). Required for normal structure and function of the retina (PubMed:19093009).
- GENATLAS Biochemistry:
- X-linked retinoschisis 1,exclusively expressed in the retina,homolog to Dictyostelium discoideum,F5,F8C,MFGE8,potentially involved in phospholipid binding and cell-cell interactions
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001786 | phosphatidylserine binding | ISS | -- |
| GO:0005543 | NOT phospholipid binding | IPI | 21196491 |
| GO:0008289 | lipid binding | IEA | -- |
Phenotypes for RS1 Gene
- MGI mutant phenotypes for RS1:
- inferred from 7 alleles
- GenomeRNAi human phenotypes for RS1:
-
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased IL-8 secretion
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased ionizing radiation sensitivity
- Decreased Salmonella proliferation
- Increased cilium length after serum starvation
Animal Models for RS1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RS1 - Select products 50% OFF >
- * RS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RS1
miRNA for RS1 Gene
- miRTarBase miRNAs that target RS1
-
- mmu-miR-3473c (MIRT581253)
- mmu-miR-343 (MIRT581254)
- mmu-miR-204-5p (MIRT581255)
- mmu-miR-211-5p (MIRT581256)
- mmu-miR-1931 (MIRT600440)
- mmu-miR-221-3p (MIRT600441)
- mmu-miR-1928 (MIRT600442)
- mmu-miR-222-3p (MIRT600443)
- mmu-miR-376c-3p (MIRT600444)
- mmu-miR-203-3p (MIRT600445)
- mmu-miR-1903 (MIRT604723)
- mmu-miR-880-3p (MIRT604724)
- mmu-miR-3065-5p (MIRT604725)
- mmu-miR-742-3p (MIRT604726)
- mmu-miR-693-5p (MIRT604727)
- mmu-miR-3064-3p (MIRT604728)
- mmu-miR-509-5p (MIRT604729)
- hsa-miR-376b-3p (MIRT682250)
- hsa-miR-376a-3p (MIRT682251)
- hsa-miR-1185-2-3p (MIRT682252)
- hsa-miR-1185-1-3p (MIRT682253)
- hsa-let-7f-2-3p (MIRT682254)
- hsa-miR-4789-5p (MIRT682255)
- hsa-miR-98-3p (MIRT682256)
- hsa-let-7f-1-3p (MIRT682257)
- hsa-let-7b-3p (MIRT682258)
- hsa-let-7a-3p (MIRT682259)
- hsa-miR-4524b-5p (MIRT682260)
- hsa-miR-4524a-5p (MIRT682261)
- hsa-miR-6853-3p (MIRT682262)
- hsa-miR-1206 (MIRT682263)
- hsa-miR-107 (MIRT682264)
- hsa-miR-103a-3p (MIRT682265)
- hsa-miR-4744 (MIRT682266)
- hsa-miR-103b (MIRT682267)
- hsa-miR-7157-5p (MIRT682268)
- hsa-miR-4310 (MIRT682269)
- hsa-miR-4719 (MIRT682270)
- hsa-miR-664a-3p (MIRT682271)
- hsa-miR-646 (MIRT682272)
- hsa-miR-503-5p (MIRT682273)
- hsa-miR-4801 (MIRT682274)
- hsa-miR-4731-3p (MIRT682275)
- hsa-miR-583 (MIRT682276)
- hsa-miR-1276 (MIRT682277)
- hsa-miR-4311 (MIRT682278)
- hsa-miR-16-5p (MIRT682279)
- hsa-miR-15a-5p (MIRT682280)
- hsa-miR-6838-5p (MIRT682281)
- hsa-miR-195-5p (MIRT682282)
- hsa-miR-497-5p (MIRT682283)
- hsa-miR-15b-5p (MIRT682284)
- hsa-miR-424-5p (MIRT682285)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RS1
- Browse OriGene Inhibitory RNA Products For RS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RS1
Clone Products
- Applied Biological Materials (abm): Clones for RS1 - Select products 50% OFF >
- * RS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RS1
- Addgene plasmids for RS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RS1
Cell Line Products
-
Horizon Cell Lines for RS1
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for RS1 Gene
Localization for RS1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RS1 Gene
- Secreted. Cell membrane. Peripheral membrane protein. Extracellular side. Note=Binds to phosphatidylserine-containing lipid membranes and embeds itself partially into the lipid bilayer. Lipid-binding requires the presence of Ca(2+) ions. {ECO:0000250 UniProtKB:Q9Z1L4}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 4 |
| nucleus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| lysosome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001917 | photoreceptor inner segment | ISS | 21196491 |
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005615 | extracellular space | TAS,IDA | 19849666 |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RS1 Gene
Pathways & Interactions for RS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Immune response IL-23 signaling pathway | ||
Pathways by source for RS1 Gene
1 BioSystems pathway for RS1 Gene
Interacting Proteins for RS1 Gene
GPS-Prot Interaction Network for RS1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007155 | cell adhesion | TAS,IEA | -- |
| GO:0007275 | multicellular organism development | TAS | 9326935 |
| GO:0007601 | visual perception | TAS,IMP | 19093009 |
| GO:0010842 | retina layer formation | IEA | -- |
| GO:0016062 | adaptation of rhodopsin mediated signaling | IEA | -- |
Transcripts for RS1 Gene
mRNA/cDNA for RS1 Gene
- 1 REFSEQ mRNAs :
- 5 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000379984 3031 nts (view in UCSC)
- ENST00000476595 1246 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RS1 - Select products 50% OFF >
- * RS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RS1
- Browse OriGene Inhibitory RNA Products For RS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RS1
Clone Products
- Applied Biological Materials (abm): Clones for RS1 - Select products 50% OFF >
- * RS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RS1
- Addgene plasmids for RS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RS1
Relevant External Links for RS1 Gene
- GeneLoc Exon Structure for
- RS1
Expression for RS1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Mature Rod Cells Outer Nuclear Layer
- Retina
-
Neurons
- Mature Rod Cells Outer Nuclear Layer
mRNA differential expression in normal tissues according to GTEx for RS1 Gene
This gene is overexpressed in Lung (x7.1), Brain - Cortex (x5.7), Brain - Anterior cingulate cortex (BA24) (x5.5), Brain - Frontal Cortex (BA9) (x5.3), Brain - Putamen (basal ganglia) (x4.9), and Brain - Caudate (basal ganglia) (x4.4).
This gene is overexpressed in Retina (47.8) and Vitreous humor (21.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RS1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RS1
SOURCE GeneReport for Unigene cluster for RS1 Gene:
Hs.715725mRNA Expression by UniProt/SwissProt for RS1 Gene:
O15537-XLRS1_HUMAN
Tissue specificity:
Restricted to the retina (at protein level) (PubMed:10915776). Detected in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer (at protein level). At the macula, expressed in both the outer and inner nuclear layers and in the inner plexiform layer (at protein level) (PubMed:10915776). Detected in retina (PubMed:9326935). Detected only within the photoreceptor cell layer, most prominently within the inner segments of the photoreceptors (PubMed:10915776). Undetectable in the inner plexiform layers and the inner nuclear layer (PubMed:10915776).
Evidence on tissue expression from TISSUES for RS1 Gene
- Eye(4.8)
- Nervous system(3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RS1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- head
General:
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for RS1
Gene Expression Assay Products
Orthologs for RS1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RS1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RS1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RS1 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rs1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Rs1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RS1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RS1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RS1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RS1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rs1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | rs1a 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2640 31 |
|
OneToMany |
- Species where no ortholog for RS1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for RS1 Gene
- ENSEMBL:
- Gene Tree for RS1 (if available)
- TreeFam:
- Gene Tree for RS1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RS1: view image
Paralogs for RS1 Gene
Variants for RS1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RS1 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 642094 | Uncertain Significance: Early infantile epileptic encephalopathy 2; Angelman syndrome-like | 18,653,485(-) | CAGGTAAACCA/C | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
| 680508 | Benign: not provided | 18,653,169(-) | G/T | INTRON_VARIANT | |
| 710170 | Benign: not provided | 18,647,222(-) | T/C | MISSENSE_VARIANT,INTRON_VARIANT | |
| 722780 | Benign: not provided | 18,656,749(-) | C/T | MISSENSE_VARIANT | |
| 730036 | Benign: not provided | 18,647,253(-) | C/G | MISSENSE_VARIANT,INTRON_VARIANT |
Residual Variation Intolerance Score:
39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.35;
41.85% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RS1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RS1 Gene
Disorders for RS1 Gene
(35) MalaCards diseases for RS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| retinoschisis 1, x-linked, juvenile |
|
|
| fundus dystrophy |
|
|
| inherited retinal disorder |
|
|
| retinal detachment |
|
|
| bullous retinoschisis |
|
|
Search RS1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
XLRS1_HUMAN- Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]: A vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma. {ECO:0000269 PubMed:10079181, ECO:0000269 PubMed:10220153, ECO:0000269 PubMed:10234514, ECO:0000269 PubMed:10450864, ECO:0000269 PubMed:10533068, ECO:0000269 PubMed:17304551, ECO:0000269 PubMed:17615541, ECO:0000269 PubMed:17631851, ECO:0000269 PubMed:19093009, ECO:0000269 PubMed:19849666, ECO:0000269 PubMed:27798099, ECO:0000269 PubMed:9326935, ECO:0000269 PubMed:9760195, ECO:0000269 Ref.14}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for RS1 Gene
retinoschisis,juvenile form characterized by schisis or splitting of the nerve fiber and ganglion cell layers of the retina causing progressive blindness in males. Excluding the sporadic senile form
Additional Disease Information for RS1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for RS1 Gene
- Positional cloning of the gene associated with X-linked juvenile retinoschisis. (PMID: 9326935) Sauer CG … Weber BH (Nature genetics 1997) 2 3 4 23
- Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer. (PMID: 19849666) Gleghorn LJ … Bulleid NJ (The Biochemical journal 2009) 3 4 23
- Molecular genetic characteristics of X-linked retinoschisis in Koreans. (PMID: 19390641) Kim SY … Park SS (Molecular vision 2009) 3 23 41
- Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. (PMID: 19093009) Lesch B … Farkas A (Molecular vision 2008) 3 4 23
- Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. (PMID: 17615541) Li X … Tao Y (Molecular vision 2007) 3 4 23
ExternalLinks
Products for RS1 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for RS1
- Origene Custom Protein Services for RS1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RS1
- Browse OriGene Inhibitory RNA Products For RS1
- OriGene qPCR primer pairs for RS1
- OriGene CRISPR knockouts for RS1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For RS1
- Sino Biological Human cDNA Clone for RS1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for RS1
- Novus Biologicals proteins and lysates for RS1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for RS1 (AFLGC-RS1)
- VectorBuilder Custom and pre-made DNA vectors for RS1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for RS1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for RS1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for RS1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for RS1
- Addgene plasmids for RS1
- antibodies-online: Show 3 available RS1 Antibodies ranked by validation data
- Compare Top RS1 Antibodies
- antibodies-online: Show 7 available RS1 Elisa Kits ranked by validation data
- Compare Top RS1 Elisa Kits
- Quality Products:
- antibodies-online: Show 7 available RS1 Proteins ranked by validation data
- Compare Top RS1 Proteins
- Quality Products:
- Horizon Cell Lines for RS1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RS1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for RS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RS1
Sources for RS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB