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FLASH GENE

Symbol

RS1

contributors: shn - updated : 17-04-2012

HGNC name	retinoschisin 1
HGNC id	10457

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	overlapping, gene in gene, opposite orientation
STRUCTURE	32.42 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	STK9, exon 17 to 20 in 3'utr, exon 4 and 3 of RS1
	two CRE (CRX-responsive elements) sites in the minimal RS1 promoter region control retinal RS1 expression and establish CRX as a key factor driving this expression

MAPPING

cloned

Y

linked

status

confirmed

Map	qter - DXS8019 - DXS1195 - RS1 RS1 - DXS999 - DXS7163 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000330 6 - 3040 NP_000321 28 224 . retina: photoreceptors layer, inner nuclear layer, inner plexiform layer and in the ganglion cell layer . pineal gland 2006 17093404

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain diencephalon epithalamus pineal gland highly Homo sapiens Visual eye retina       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual amacrine cell Visual bipolar cell Visual cone photoreceptor Homo sapiens Visual horizontal association cell Visual rod photoreceptor Homo sapiens

cell lineage
cell lines	retinoblastoma cells (Weri-Rb1 cells)
fluid/secretion

at STAGE

physiological period

fetal

Text	eye, retina, anterior segment

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains	two functional sites of conserved sequence motifs, the N-terminus signal sequence (aa 1&
	8722;21/23)
	and a long and evolutionarily conserved sequence motif termed the discoidin domain (DS; aa 64&
	8722;219) implicated in cell adhesion and regulatory signaling processes
	a signal peptide
	ten cysteine residues

mono polymer

homomer , octamer , oligo

HOMOLOGY

interspecies	ortholog to Rs1, Mus musculus
	homolog to fish rs1 (69.3pc)
	ortholog to RS1, Pan troglodytes
	ortholog to Rs1, Rattus norvegicus

intraspecies

homolog to F5, F8C, MFGE8

Homologene

FAMILY

CATEGORY

adhesion , secretory

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
text	peripheral membrane protein bound by ionic forces to the outer leaflet of the photoreceptor inner segment plasma membrane
	primarily localized on the outer surface of the inner segments of cones and rods as well as the outer nuclear and outer plexiform layers of the retina

basic FUNCTION	play an important role in the development and maintenance of retinal cytoarchitecture
	potentially involved in phospholipid binding and cell-cell interactions
	mediating interactions/adhesion between photoreceptor, bipolar, and Muller cells, contributing to the maintenance of the cytoarchitectural integrity of the retina
	functioning as an adhesive protein in preserving the structural and functional integrity of the retina
	having a functional role locally at the site of secretion and the association with the membrane is necessary for maintaining the stability and architecture of the photoreceptor inner segment
	interactions between L-VGCC-alpha 1 subunits and retinoschisin play an important role in the membrane retention of L-VGCC-alpha 1 subunits and photoreceptor-bipolar synaptic transmission
	has a role in the circadian regulation of L-type VGCCs
	in retinal cell layer organization and synaptic structure
	in the retina, functions as an adhesion molecule to preserve the structural organization of the retinal cell layers, a critical factor for promoting visual signal transduction
	having direct and specific effect on anionic lipid bilayers containing PS in the presence of Ca2++
	having dual functionality, as a cell-adhesion molecule and also as a regulatory accessory of several membrane protein assemblies
	important for the maintenance of retinal cell integrity

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

associated with a complex consisting of N/K ATPase and SARM1

INTERACTION

DNA

RNA

small molecule

protein	SARM1
	L-type Voltage-gated calcium channels in the retina
	phosphatidylserine in the retinal cell plasma membranes in a calcium-dependent manner (
	ATP1A3 and ATP1B2 (

cell & other

bipolar and Müller cells

REGULATION

induced by

L-type VGCCs

ASSOCIATED DISORDERS

corresponding disease(s)

RS1

related resource

X-Linked Juvenile Retinoschisis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Pathologic changes in hemizygous Rs1h(-/Y) male mice are a marked splitting of the inner nuclear layer, a disorganization of the retinal cell layers, and a later degeneration of the photoreceptors whitch is more pronounced in cones
	Rs1h-KO mice display a thinned and disorganized outer nuclear layer, rod outer segments are misaligned and abundant schisis cavities spanned the inner nuclear, ERG a- and b-wave amplitudes are reduced by 33% and 50%, respectively