Rs1 retinoschisin 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Rs1provided by RGD
Official Full Name: retinoschisin 1provided by RGD
Primary source: RGD:1642515
See related: Ensembl:ENSRNOG00000030434 AllianceGenome:RGD:1642515
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable phosphatidylinositol-3,4-bisphosphate binding activity and phospholipid binding activity. Predicted to be involved in protein homooligomerization and visual perception. Predicted to act upstream of or within adaptation of rhodopsin mediated signaling and retina layer formation. Predicted to be located in extracellular space; neuron to neuron synapse; and photoreceptor inner segment. Predicted to be extrinsic component of plasma membrane. Human ortholog(s) of this gene implicated in X-linked juvenile retinoschisis 1 and retinoschisis. Orthologous to human RS1 (retinoschisin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human mouse all
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Genomic context

Location:: Xq14

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (37771135..37800894, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (33962440..33992203, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	X	NC_005120.4 (35749957..35777243, complement)

Chromosome X - NC_086039.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

XLRS Rat with Rs1[-/Y] Exon-1-Del Shows Failure of Early Postnatal Outer Retina Development.
Title: XLRS Rat with Rs1(-/Y) Exon-1-Del Shows Failure of Early Postnatal Outer Retina Development.
Rs1h(-/y) exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation.
Title: Rs1h(-/y) exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation.
Retinoschisin protein(RS) is expressed in the pinealocytes but not in interstitial glial cells. The lack of structural abnormalities in the RS1(-/Y) mice suggests that RS serves a different function in the pineal gland than in the retina.
Title: Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout.

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General gene information

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Markers

DXGot31 (e-PCR)
- UniSTS:111876

Rs1 (e-PCR), detects polymorphism
- UniSTS:536464

RH136752 (e-PCR)
- UniSTS:218841

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
NOT enables phosphatidylcholine binding	ISO Inferred from Sequence Orthology more info
NOT enables phosphatidylethanolamine binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,4-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3-phosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4-phosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-5-phosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylserine binding	ISO Inferred from Sequence Orthology more info
NOT enables phospholipid binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retina layer formation	ISO Inferred from Sequence Orthology more info
involved_in visual perception	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cell surface	ISO Inferred from Sequence Orthology more info
located_in external side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in neuron to neuron synapse	ISO Inferred from Sequence Orthology more info
located_in photoreceptor inner segment	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: retinoschisin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001104643.3 → NP_001098113.1 retinoschisin precursor

See identical proteins and their annotated locations for NP_001098113.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000021

UniProtKB/TrEMBL

A0A8I6AFU4, A0A9K3Y6U2, A7UJ12, F1LSP1

Related

ENSRNOP00000042298.4, ENSRNOT00000040912.5

Conserved Domains (2) summary

smart00231
Location:64 → 219

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

cd00057
Location:68 → 217

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.