RS1 - retinoschisin 1 Gene

Also Known as RS; XLRS1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6247

About RS1

Cytogenetic location: Xp22.13 Genomic coordinates (GRCh38): X:18,639,688-18,672,108 (from NCBI)

This gene has 2 transcripts (splice variants), 175 orthologues, 1 paralogue and is associated with 3 phenotypes. Low expression observed in reference dataset.

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]

RS1 Products (1)

mRNA	Protein	Name
NM_000330.4	NP_000321.1	retinoschisin precursor

RS1 Protein Structure

F5_F8_type_C

0
100
200
224 a.a.

Protein Preferred Names	Protein Names
retinoschisin	X-linked juvenile retinoschisis protein

Related Diseases

Diseases	Alias
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Juvenile Retinoschisis	X-Linked Retinoschisis Retinoschisis X-Linked Retinoschisis Juvenile X Chromosome-Linked X-Linked Juvenile Retinoschisis Xjr Retinoschisis, Juvenile Retinoschisis, Juvenile, X-Linked Xlrs - [X-Linked Retinoschisis]
Developmental And Epileptic Encephalopathy 2	Epileptic Encephalopathy, Early Infantile, 2 DEE2 Eiee2 Issx2 Developmental And Epileptic Encephalopathy, 2 Infantile Spasm Syndrome, X-Linked 2 Early Infantile Epileptic Encephalopathy 2 X-Linked Infantile Spasm Syndrome 2 Atypical Rett Syndrome Cdkl5-Related Atypical Rett Syndrome Hanefeld Variant Infantile Spasm Syndrome X-Linked 2 Rett Syndrome Early-Onset Seizure Variant Rett Syndrome Variant With Infantile Spasms Encephalopathy, Epileptic, Early Infantile, Type 2
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinal Detachment	Retinal Detachments Rhegmatogenous Retinal Detachment Ruptured Retina With Detachment Retinal Hole With Detachment
Nicolaides-Baraitser Syndrome	NCBRS Nbs Sparse Hair And Mental Retardation Sparse Hair And Intellectual Disability Intellectual Disability-Sparse Hair-Brachydactyly Syndrome Nicolaides Baraitser Syndrome
X-Linked Congenital Retinoschisis	X-Linked Retinoschisis
Neovascular Glaucoma	Glaucoma, Neovascular Secondary Angle-Closure Glaucoma With Rubeosis Glaucoma Neovascular
Bullous Retinoschisis
Vitreoretinal Dystrophy	Vitreoretinal Dystrophies
Retinal Perforation	Retinal Break Retinal Perforations Retinal Dialysis Retinal Tear Retinal Break Nos Ruptured Retina
Vitreous Detachment	Posterior Vitreous Detachment Vitreous Syneresis
Leukocoria	Leucocoria
Macular Dystrophy, Dominant Cystoid	Cystoid Macular Edema DCMD Cystoid Macular Dystrophy Macular Edema, Cystoid Autosomal Dominant Cystoid Macular Edema Cymd Mddc Familial Macular Edema Macular Edema Macular Retinal Edema
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Eye Degenerative Disease
Macular Holes	Macular Hole
Enhanced S-Cone Syndrome	Goldmann-Favre Syndrome ESCS Favre Hyaloideoretinal Degeneration Retinoschisis With Early Hemeralopia Retinoschisis With Early Nyctalopia Enhanced S Cone Syndrome S-Cone Syndrome, Enhanced
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Retinal Degeneration	Degeneration Of Retina
Choroidal Dystrophy, Central Areolar, 1	Choroidal Sclerosis Choroidal Dystrophy Choroidal Dystrophy, Central Areolar Cacd Central Areolar Choroidal Dystrophy CACD1 Choroidal Dystrophy, Central Areolar 1 Choroidal Dystrophy Central Areolar Central Areolar Choroidal Sclerosis Choroidal Degenerations Areolar Atrophy Of The Macula Partial Central Choroid Dystrophy Degenerative Choroidopathy Chorioretinal Degeneration Hereditary Chorioretinal Degeneration Hereditary Degeneration Of Choroid Hereditary Choroidal Dystrophies Generalised Choroidal Dystrophy Hereditary Choroidopathy
Hereditary Retinal Dystrophy	Hereditary Retinal Dystrophies
Desmoid Disease, Hereditary	Fif DESMD Hereditary Desmoid Disease Familial Infiltrative Fibromatosis Fibromatosis, Familial Infiltrative Fibromatosis, Aggressive
Central Retinal Artery Occlusion
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Vitreous Disease	Disorder Of Vitreous Body
Coloboma Of Optic Nerve	Morning Glory Disc Anomaly Coloboma Of Optic Disc Morning Glory Syndrome Ectasic Coloboma Coloboma Of Optic Papilla Congenital Coloboma Of The Optic Nerve Optic Nerve Coloboma Optic Nerve Head Pits, Bilateral Congenital Volubilis Syndrome COLON Coloboma Of Optic Disc, Unspecified Eye Congenital Coloboma Of Optic Disc Optic Disk Coloboma
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Choroideremia	CHM Tcd Progressive Tapetochoroidal Dystrophy Choroidal Sclerosis Tapetochoroidal Dystrophy, Progressive Progressive Choroidal Atrophy Tapetochoroidal Dystrophy
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Coats Disease	Exudative Retinopathy Retinal Telangiectasis Coats' Disease Leber Miliary Aneurysm Coats' Syndrome Congenital Retinal Telangiectasia
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Norrie Disease	Atrophia Bulborum Hereditaria Episkopi Blindness Pseudoglioma ND Norrie-Warburg Disease Anderson-Warburg Syndrome Fetal Iritis Syndrome Norrie Syndrome Norrie-Warburg Syndrome Ndp Congenital Progressive Oculo-Acoustico-Cerebral Degeneration Norrie'S Disease Oligophrenia Microphthalmus Pseudoglioma Congenita Whitnall-Norman Syndrome
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-19793	RS-1	Activator	99.77%	Phase 2

Pre-clinical Phase

Bioactive Molecules (6)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-147558	CB1R Allosteric modulator 1	Modulator	/	Unkown
HY-147559	CB1R Allosteric modulator 2	Modulator	/	Unkown
HY-181598	GPX4 degrader-1		/	Unkown
HY-RS12295	RS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17092	Rs1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23536	Rs1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RS1	VGNC	VGNC:76942
Rattus norvegicus	RS1	RGD	RGD:1642515
Bos taurus	RS1	VGNC	VGNC:34174
Mus musculus	RS1	MGD	MGI:1336189
Canis familiaris	RS1	VGNC	VGNC:45769
Others	RS1	NCBI