Details for: RS1

Gene ID: 6247

Symbol: RS1

Ensembl ID: ENSG00000102104

Description: retinoschisin 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 9.8958
    Cell Significance Index: 623.7000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 3.6659
    Cell Significance Index: 43.7000
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.0805
    Cell Significance Index: 15.1800
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.9649
    Cell Significance Index: 13.7100
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 0.4570
    Cell Significance Index: 4.7400
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.3925
    Cell Significance Index: 4.9000
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.1437
    Cell Significance Index: 3.4800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1208
    Cell Significance Index: 3.1000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0210
    Cell Significance Index: 0.3100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0050
    Cell Significance Index: -3.1500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0052
    Cell Significance Index: -9.7300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0070
    Cell Significance Index: -5.1400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0071
    Cell Significance Index: -0.1200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0116
    Cell Significance Index: -0.5400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0123
    Cell Significance Index: -0.3500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0134
    Cell Significance Index: -9.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0150
    Cell Significance Index: -0.7800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0152
    Cell Significance Index: -11.4800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0161
    Cell Significance Index: -8.8100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0163
    Cell Significance Index: -10.1600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0176
    Cell Significance Index: -9.9200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0190
    Cell Significance Index: -3.4200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0212
    Cell Significance Index: -7.6200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0225
    Cell Significance Index: -41.5700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0243
    Cell Significance Index: -3.5300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0272
    Cell Significance Index: -0.7400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0287
    Cell Significance Index: -8.2600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0327
    Cell Significance Index: -14.8200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0328
    Cell Significance Index: -0.6400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0332
    Cell Significance Index: -51.1400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0344
    Cell Significance Index: -6.8300
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.0347
    Cell Significance Index: -0.3400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0368
    Cell Significance Index: -4.5300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0391
    Cell Significance Index: -7.8400
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.0399
    Cell Significance Index: -0.3800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0400
    Cell Significance Index: -54.3800
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0405
    Cell Significance Index: -0.5600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0437
    Cell Significance Index: -1.0100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0439
    Cell Significance Index: -7.4900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0478
    Cell Significance Index: -10.0600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0497
    Cell Significance Index: -1.0400
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0589
    Cell Significance Index: -0.6100
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.0601
    Cell Significance Index: -0.5200
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0642
    Cell Significance Index: -0.9600
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0655
    Cell Significance Index: -0.8600
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: -0.0671
    Cell Significance Index: -0.5300
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0675
    Cell Significance Index: -0.8200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0696
    Cell Significance Index: -5.5100
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.0700
    Cell Significance Index: -0.6700
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.0708
    Cell Significance Index: -0.6400
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.0716
    Cell Significance Index: -0.9800
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.0738
    Cell Significance Index: -1.0500
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.0760
    Cell Significance Index: -0.6800
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: -0.0767
    Cell Significance Index: -0.6100
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: -0.0778
    Cell Significance Index: -0.4800
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.0786
    Cell Significance Index: -0.9100
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: -0.0815
    Cell Significance Index: -0.6600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0821
    Cell Significance Index: -0.5600
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: -0.0823
    Cell Significance Index: -0.3100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0843
    Cell Significance Index: -9.6600
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: -0.0846
    Cell Significance Index: -0.7400
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.0868
    Cell Significance Index: -0.9200
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.0898
    Cell Significance Index: -0.4700
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.0937
    Cell Significance Index: -0.6500
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: -0.0952
    Cell Significance Index: -0.9900
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: -0.0962
    Cell Significance Index: -0.9600
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: -0.1077
    Cell Significance Index: -0.6200
  • Cell Name: group 3 innate lymphoid cell, human (CL0001078)
    Fold Change: -0.1078
    Cell Significance Index: -1.0100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1118
    Cell Significance Index: -5.8300
  • Cell Name: airway submucosal gland duct basal cell (CL4033024)
    Fold Change: -0.1129
    Cell Significance Index: -0.9900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1155
    Cell Significance Index: -12.0300
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.1375
    Cell Significance Index: -0.3100
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: -0.1432
    Cell Significance Index: -0.9500
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: -0.1444
    Cell Significance Index: -1.0400
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.1455
    Cell Significance Index: -2.1200
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: -0.1482
    Cell Significance Index: -0.7800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1556
    Cell Significance Index: -7.8600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1557
    Cell Significance Index: -7.3200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1565
    Cell Significance Index: -10.5300
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -0.1566
    Cell Significance Index: -1.0000
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.1652
    Cell Significance Index: -1.0300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1669
    Cell Significance Index: -10.2600
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: -0.1811
    Cell Significance Index: -0.6300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1856
    Cell Significance Index: -7.6000
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: -0.2111
    Cell Significance Index: -1.0100
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.2279
    Cell Significance Index: -3.8700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2281
    Cell Significance Index: -6.0900
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: -0.2314
    Cell Significance Index: -0.6200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2456
    Cell Significance Index: -5.2500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2539
    Cell Significance Index: -4.2500
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: -0.2551
    Cell Significance Index: -0.3300
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.2592
    Cell Significance Index: -3.2800
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.2754
    Cell Significance Index: -3.8600
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: -0.2763
    Cell Significance Index: -3.5500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2849
    Cell Significance Index: -21.8600
  • Cell Name: contractile cell (CL0000183)
    Fold Change: -0.2946
    Cell Significance Index: -0.5700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2982
    Cell Significance Index: -6.5300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2990
    Cell Significance Index: -16.7800
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.3042
    Cell Significance Index: -7.7500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3045
    Cell Significance Index: -8.1600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The RS1 gene is a large gene that spans approximately 30 kilobases and consists of 19 exons. It encodes a protein called retinoschisin, which is a homooligomerization protein that binds to phospholipids and other proteins. The retinoschisin protein is primarily expressed in the retina, where it plays a critical role in maintaining the structure and function of photoreceptor cells. **Pathways and Functions** The RS1 gene is involved in several signaling pathways, including: 1. **Adaptation of rhodopsin-mediated signaling**: Retinoschisin interacts with rhodopsin, a protein that is essential for photoreceptor function, to regulate the adaptation of photoreceptor cells to changes in light. 2. **Cell adhesion**: Retinoschisin binds to phospholipids and other proteins to regulate cell adhesion and migration, which is critical for the formation of the retina and the maintenance of retinal structure. 3. **Visual perception**: Retinoschisin is involved in the regulation of visual perception by modulating the function of photoreceptor cells and the transmission of visual signals to the brain. **Clinical Significance** Mutations in the RS1 gene have been associated with several retinal disorders, including: 1. **Stargardt disease**: A juvenile form of macular degeneration that is characterized by progressive vision loss. 2. **Usher syndrome**: A genetic disorder that is characterized by retinitis pigmentosa and hearing loss. 3. **Leber congenital amaurosis**: A severe form of retinitis pigmentosa that is characterized by blindness from birth. The RS1 gene is also of interest in the study of cancer, as it has been shown to be overexpressed in certain types of tumors, including glioblastoma and breast cancer. In conclusion, the RS1 gene plays a critical role in maintaining the structure and function of the retina, regulating cellular adhesion and signaling pathways, and is involved in several clinical disorders. Further research is needed to fully understand the function of the RS1 gene and its role in human disease.

Genular Protein ID: 1395519703

Symbol: XLRS1_HUMAN

Name: Retinoschisin

UniProtKB Accession Codes:

O15537 Q0QD39

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 10 EMDB 3 Ensembl 1 GO 13 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9326935

Title: Positional cloning of the gene associated with X-linked juvenile retinoschisis.

PubMed ID: 9326935

DOI: 10.1038/ng1097-164

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 17286855

Title: Mapping of transcription start sites of human retina expressed genes.

PubMed ID: 17286855

DOI: 10.1186/1471-2164-8-42

PubMed ID: 10915776

Title: Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.

PubMed ID: 10915776

DOI: 10.1093/hmg/9.12.1873

PubMed ID: 15644328

Title: RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer.

PubMed ID: 15644328

DOI: 10.1074/jbc.m413117200

PubMed ID: 19849666

Title: Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.

PubMed ID: 19849666

DOI: 10.1042/bj20091179

PubMed ID: 27798099

Title: Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.

PubMed ID: 27798099

DOI: 10.1093/hmg/ddw345

PubMed ID: 26812435

Title: Cog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated with X-Linked Retinoschisis.

PubMed ID: 26812435

DOI: 10.1371/journal.pone.0147653

PubMed ID: 27114531

Title: Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina.

PubMed ID: 27114531

DOI: 10.1073/pnas.1519048113

PubMed ID: 9760195

Title: Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.

PubMed ID: 9760195

DOI: 10.1007/pl00008705

PubMed ID: 10079181

Title: Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.

PubMed ID: 10079181

DOI: 10.1006/bbrc.1999.0323

PubMed ID: 10450864

Title: Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.

PubMed ID: 10450864

DOI: 10.1034/j.1399-0004.1999.550611.x

PubMed ID: 10234514

Title: Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

PubMed ID: 10234514

DOI: 10.1038/sj.ejhg.5200300

PubMed ID: 10220153

Title: Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis.

PubMed ID: 10220153

DOI: 10.1002/(sici)1098-1004(1999)13:4<338::aid-humu16>3.0.co;2-0

PubMed ID: 10533068

Title: Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.

PubMed ID: 10533068

DOI: 10.1002/(sici)1098-1004(199911)14:5<423::aid-humu8>3.0.co;2-d

PubMed ID: 17304551

Title: X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.

PubMed ID: 17304551

DOI: 10.1002/ajmg.a.31568

PubMed ID: 17631851

Title: Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.

PubMed ID: 17631851

DOI: 10.1016/j.ajo.2007.05.016

PubMed ID: 17615541

Title: Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

PubMed ID: 17615541

PubMed ID: 19093009

Title: Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

PubMed ID: 19093009

Sequence Information:

  • Length: 224
  • Mass: 25592
  • Checksum: A3893895E6A7E292
  • Sequence:
    • MSRKIEGFLL LLLFGYEATL GLSSTEDEGE DPWYQKACKC DCQGGPNALW SAGATSLDCI 
PECPYHKPLG FESGEVTPDQ ITCSNPEQYV GWYSSWTANK ARLNSQGFGC AWLSKFQDSS 
QWLQIDLKEI KVISGILTQG RCDIDEWMTK YSVQYRTDER LNWIYYKDQT GNNRVFYGNS 
DRTSTVQNLL RPPIISRFIR LIPLGWHVRI AIRMELLECV SKCA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.