Rs1 (retinoschisin 1) - Rat Genome Database

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Gene: Rs1 (retinoschisin 1) Rattus norvegicus
Analyze
Symbol: Rs1
Name: retinoschisin 1
RGD ID: 1642515
Description: Predicted to enable phosphatidylinositol-3,4-bisphosphate binding activity and phospholipid binding activity. Predicted to be involved in protein homooligomerization and retina layer formation. Predicted to act upstream of or within visual perception. Predicted to be located in extracellular region; neuron to neuron synapse; and photoreceptor inner segment. Predicted to be part of protein-containing complex. Predicted to be active in external side of plasma membrane and extracellular space. Human ortholog(s) of this gene implicated in X-linked juvenile retinoschisis 1 and retinoschisis. Orthologous to human RS1 (retinoschisin 1); INTERACTS WITH bisphenol A; lead diacetate; 1,2-dichloroethane (ortholog).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: retinoschisin
RGD Orthologs
Human
Mouse
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X37,771,135 - 37,800,894 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX37,771,135 - 37,800,894 (-)EnsemblGRCr8
mRatBN7.2X33,962,440 - 33,992,203 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX33,963,657 - 33,992,115 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX35,125,011 - 35,153,478 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X38,586,858 - 38,615,312 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X36,262,164 - 36,290,631 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X35,749,957 - 35,777,243 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX35,749,957 - 35,777,243 (-)Ensemblrn6Rnor6.0
Rnor_5.0X36,077,773 - 36,106,448 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X55,242,654 - 55,266,251 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
CeleraX34,650,786 - 34,679,172 (-)NCBICelera
Cytogenetic MapXq14NCBI
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis. Johnson BA, etal., Genetics. 2008 Mar;178(3):1785-94. doi: 10.1534/genetics.107.084905. Epub 2008 Feb 3.
2. Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online. Mashima Y, etal., Hum Mutat. 1999;13(4):338.
3. Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. Min SH, etal., Mol Ther. 2005 Oct;12(4):644-51.
4. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. NO_AUTHOR Hum Mol Genet. 1998 Jul;7(7):1185-92.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Comprehensive gene review and curation RGD comprehensive gene curation
9. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Sauer CG, etal., Nat Genet. 1997 Oct;17(2):164-70.
10. Novel RS1 mutations associated with X-linked juvenile retinoschisis. Yi J, etal., Int J Mol Med. 2012 Apr;29(4):644-8. doi: 10.3892/ijmm.2012.882. Epub 2012 Jan 10.
11. RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis. Zeng Y, etal., Invest Ophthalmol Vis Sci. 2004 Sep;45(9):3279-85.
Additional References at PubMed
PMID:11983912   PMID:12853421   PMID:17093404   PMID:17325137   PMID:19093009   PMID:19849666   PMID:20677810   PMID:21196491   PMID:21873635   PMID:34548657   PMID:36360232   PMID:38797343  


Genomics

Comparative Map Data
Rs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X37,771,135 - 37,800,894 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX37,771,135 - 37,800,894 (-)EnsemblGRCr8
mRatBN7.2X33,962,440 - 33,992,203 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX33,963,657 - 33,992,115 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX35,125,011 - 35,153,478 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X38,586,858 - 38,615,312 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X36,262,164 - 36,290,631 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X35,749,957 - 35,777,243 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX35,749,957 - 35,777,243 (-)Ensemblrn6Rnor6.0
Rnor_5.0X36,077,773 - 36,106,448 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X55,242,654 - 55,266,251 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
CeleraX34,650,786 - 34,679,172 (-)NCBICelera
Cytogenetic MapXq14NCBI
RS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X18,639,688 - 18,672,108 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX18,639,688 - 18,672,108 (-)Ensemblhg38GRCh38
GRCh37X18,657,808 - 18,690,228 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X18,567,729 - 18,600,150 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34X18,417,466 - 18,449,886NCBI
CeleraX22,777,900 - 22,810,314 (-)NCBICelera
Cytogenetic MapXp22.13NCBI
HuRefX16,411,987 - 16,443,999 (-)NCBIHuRef
CHM1_1X18,688,889 - 18,721,309 (-)NCBICHM1_1
T2T-CHM13v2.0X18,222,290 - 18,254,713 (-)NCBIT2T-CHM13v2.0
Rs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X159,548,815 - 159,584,800 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX159,551,009 - 159,582,659 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38X160,765,819 - 160,799,663 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX160,768,013 - 160,799,663 (+)Ensemblmm10GRCm38
MGSCv37X157,205,945 - 157,237,595 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36X156,112,118 - 156,143,768 (+)NCBIMGSCv36mm8
CeleraX144,007,814 - 144,039,864 (+)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX73.95NCBI
RS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X20,433,581 - 20,458,436 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X20,433,137 - 20,461,828 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X11,259,222 - 11,282,289 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X18,624,687 - 18,657,315 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX18,624,687 - 18,657,315 (-)EnsemblpanPan2panpan1.1
RS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X14,727,016 - 14,749,674 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX14,727,062 - 14,749,492 (-)EnsemblcanFam3CanFam3.1
ROS_Cfam_1.0X14,692,941 - 14,703,063 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX14,692,682 - 14,716,577 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X14,751,342 - 14,764,123 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X14,744,546 - 14,757,322 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X14,808,349 - 14,821,138 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Rs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X7,795,248 - 7,824,783 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936844284,141 - 314,545 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936844284,938 - 314,524 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX15,085,050 - 15,109,243 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1X15,080,972 - 15,099,426 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X16,293,478 - 16,317,820 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X17,089,382 - 17,105,145 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX17,089,598 - 17,118,447 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605618,977,893 - 19,004,727 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rs1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248293,485,708 - 3,518,447 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248293,485,635 - 3,498,431 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Rs1
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1X32,127,270 - 32,156,640 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Rs1
184 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:104
Count of miRNA genes:87
Interacting mature miRNAs:95
Transcripts:ENSRNOT00000040912
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1598873Memor2Memory QTL 22.5exploratory behavior trait (VT:0010471)average horizontal distance between subject and target during voluntary locomotion in an experimental apparatus (CMO:0002674)X2447036044931007Rat
70165Bp64Blood pressure QTL 645.2arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)X400149344939387Rat
2290375Gluco34Glucose level QTL 342.75blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)X2447036045082063Rat
731181Uae27Urinary albumin excretion QTL 272.70.0059urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)X197044046970440Rat
631666Iddm5Insulin dependent diabetes mellitus QTL 5blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)X811148653111486Rat

Markers in Region
DXGot31  
Rat AssemblyChrPosition (strand)SourceJBrowse
GRCr8X37,780,068 - 37,780,225 (+)Marker Load Pipeline
mRatBN7.2X33,971,379 - 33,971,534 (+)MAPPERmRatBN7.2
Rnor_6.0X35,757,676 - 35,757,830NCBIRnor6.0
Rnor_5.0X36,085,492 - 36,085,646UniSTSRnor5.0
RGSC_v3.4X55,250,372 - 55,250,527RGDRGSC3.4
RGSC_v3.4X55,250,373 - 55,250,527UniSTSRGSC3.4
CeleraX34,658,491 - 34,658,645UniSTS
RGSC_v3.1X55,303,841 - 55,303,996RGD
RH136752  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2X33,969,877 - 33,970,038 (+)MAPPERmRatBN7.2
Rnor_6.0X35,756,174 - 35,756,334NCBIRnor6.0
Rnor_5.0X36,083,990 - 36,084,150UniSTSRnor5.0
RGSC_v3.4X55,248,871 - 55,249,031UniSTSRGSC3.4
CeleraX34,656,989 - 34,657,149UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1 5 15 53 20 23 7 20 7 6 82 49 4 40 21 16 16 13 13

Sequence


Ensembl Acc Id: ENSRNOT00000040912   ⟹   ENSRNOP00000042298
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 EnsemblX37,771,135 - 37,800,894 (-)Ensembl
mRatBN7.2 EnsemblX33,963,657 - 33,992,115 (-)Ensembl
Rnor_6.0 EnsemblX35,749,957 - 35,777,243 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000095419   ⟹   ENSRNOP00000077149
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 EnsemblX37,771,135 - 37,800,806 (-)Ensembl
mRatBN7.2 EnsemblX33,963,657 - 33,992,115 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000106774   ⟹   ENSRNOP00000087050
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX33,963,657 - 33,992,115 (-)Ensembl
RefSeq Acc Id: NM_001104643   ⟹   NP_001098113
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X37,771,135 - 37,800,894 (-)NCBI
mRatBN7.2X33,962,440 - 33,992,203 (-)NCBI
Rnor_6.0X35,749,957 - 35,777,243 (-)NCBI
Rnor_5.0X36,077,773 - 36,106,448 (-)NCBI
RGSC_v3.4X55,242,654 - 55,266,251 (-)RGD
CeleraX34,650,786 - 34,679,172 (-)RGD
Sequence:
Protein Sequences
Protein RefSeqs NP_001098113 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein ABU55904 (Get FASTA)   NCBI Sequence Viewer  
  EDL96155 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000042298
  ENSRNOP00000042298.4
  ENSRNOP00000077149.1
RefSeq Acc Id: NP_001098113   ⟸   NM_001104643
- Peptide Label: precursor
- UniProtKB: A7UJ12 (UniProtKB/TrEMBL),   F1LSP1 (UniProtKB/TrEMBL),   A0A9K3Y6U2 (UniProtKB/TrEMBL),   A0A8I6AFU4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000042298   ⟸   ENSRNOT00000040912
Ensembl Acc Id: ENSRNOP00000087050   ⟸   ENSRNOT00000106774
Ensembl Acc Id: ENSRNOP00000077149   ⟸   ENSRNOT00000095419
Protein Domains
F5/8 type C

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A7UJ12-F1-model_v2 AlphaFold A7UJ12 1-224 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1642515 AgrOrtholog
BioCyc Gene G2FUF-2509 BioCyc
Ensembl Genes ENSRNOG00000030434 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000040912 ENTREZGENE
  ENSRNOT00000040912.6 UniProtKB/TrEMBL
  ENSRNOT00000095419.2 UniProtKB/TrEMBL
Gene3D-CATH Galactose-binding domain-like UniProtKB/TrEMBL
InterPro Coagulation_factor_5/8-type_C UniProtKB/TrEMBL
  Galactose-bd-like UniProtKB/TrEMBL
  Neuropilin_MCO_CoagFactor UniProtKB/TrEMBL
KEGG Report rno:100125595 UniProtKB/TrEMBL
NCBI Gene 100125595 ENTREZGENE
PANTHER F5/8 TYPE C DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  F5_8 TYPE C DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
Pfam F5_F8_type_C UniProtKB/TrEMBL
PhenoGen Rs1 PhenoGen
PROSITE FA58C_1 UniProtKB/TrEMBL
  FA58C_3 UniProtKB/TrEMBL
RatGTEx ENSRNOG00000030434 RatGTEx
SMART FA58C UniProtKB/TrEMBL
Superfamily-SCOP Gal_bind_like UniProtKB/TrEMBL
UniProt A0A8I5YC76_RAT UniProtKB/TrEMBL
  A0A8I6AFU4 ENTREZGENE
  A0A9K3Y6U2 ENTREZGENE, UniProtKB/TrEMBL
  A7UJ12 ENTREZGENE, UniProtKB/TrEMBL
  F1LSP1 ENTREZGENE
UniProt Secondary F1LSP1 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-10-16 Rs1  retinoschisin 1  Rs1  retinoschisin  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2007-09-21 Rs1  retinoschisin      Symbol and Name status set to provisional 70820 PROVISIONAL