RS1 retinoschisin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RS1provided by HGNC
Official Full Name: retinoschisin 1provided by HGNC
Primary source: HGNC:HGNC:10457
See related: Ensembl:ENSG00000102104 MIM:300839; AllianceGenome:HGNC:10457
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RS; XLRS1
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (18639688..18672108, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (18222290..18254713, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (18657808..18690228, complement)

Chromosome X - NC_000023.11 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy.
Title: Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy.
Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.
Title: Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.
Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India.
Title: Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India.
Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Outcomes.
Title: Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Outcomes.
Advances in understanding the molecular structure of retinoschisin while questions remain of biological function.
Title: Advances in understanding the molecular structure of retinoschisin while questions remain of biological function.
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.
Title: Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.
Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors.
Title: Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors.
[Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters].
Title: [Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters].
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Title: X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Spontaneous resolution of schitic cavities in XLRS.
Title: Spontaneous resolution of schitic cavities in XLRS.

Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Juvenile retinoschisis MedGen: C3714753 OMIM: 312700 GeneReviews: X-Linked Congenital Retinoschisis	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-08-02) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-08-02) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-32426 (e-PCR)
- UniSTS:41486

DXS6760 (e-PCR)
- UniSTS:149826

NoName (e-PCR)
- UniSTS:481368

DXS7176 (e-PCR)
- UniSTS:98959

REN39908 (e-PCR)
- UniSTS:364708

RH11240 (e-PCR)
- UniSTS:25789

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol-3,4-bisphosphate binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylserine binding	ISS Inferred from Sequence or Structural Similarity more info
NOT enables phospholipid binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in eye development	TAS Traceable Author Statement more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in retina layer formation	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in external side of plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in neuron to neuron synapse	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in photoreceptor inner segment	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: retinoschisin

Names: X-linked juvenile retinoschisis protein

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.

Genomic

NG_008659.3 RefSeqGene

Range

10346..42761

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_702

mRNA and Protein(s)

NM_000330.4 → NP_000321.1 retinoschisin precursor

See identical proteins and their annotated locations for NP_000321.1

Status: REVIEWED

Source sequence(s)

AF014459, BQ185379, DQ426892, Z92542, Z94056

Consensus CDS

CCDS14187.1

UniProtKB/Swiss-Prot

O15537, Q0QD39

Related

ENSP00000369320.3, ENST00000379984.4

Conserved Domains (1) summary

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.