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Protein

Retinoschisin

Gene

RS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be active in cell adhesion processes during retinal development.

GO - Molecular functioni

GO - Biological processi

  • adaptation of rhodopsin mediated signaling Source: Ensembl
  • cell adhesion Source: ProtInc
  • multicellular organism development Source: ProtInc
  • retina layer formation Source: Ensembl
  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell adhesion, Sensory transduction, Vision

Enzyme and pathway databases

BioCyciZFISH:ENSG00000102104-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Retinoschisin
Alternative name(s):
X-linked juvenile retinoschisis protein
Gene namesi
Name:RS1
Synonyms:XLRS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:10457. RS1.

Subcellular locationi

GO - Cellular componenti

  • extracellular space Source: ProtInc
  • extrinsic component of plasma membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Retinoschisis juvenile X-linked 1 (XLRS1)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma.
See also OMIM:312700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00820912L → H in XLRS1. Corresponds to variant rs62645879dbSNPEnsembl.1
Natural variantiVAR_00821013L → P in XLRS1. 1 PublicationCorresponds to variant rs104894935dbSNPEnsembl.1
Natural variantiVAR_00821159C → S in XLRS1. Corresponds to variant rs62645889dbSNPEnsembl.1
Natural variantiVAR_00821265Y → C in XLRS1. Corresponds to variant rs62645892dbSNPEnsembl.1
Natural variantiVAR_00821370G → A in XLRS1. 1 Publication1
Natural variantiVAR_00821470G → S in XLRS1. 1 Publication1
Natural variantiVAR_00818072E → D in XLRS1. Corresponds to variant rs104894932dbSNPEnsembl.1
Natural variantiVAR_00818172E → K in XLRS1. 5 PublicationsCorresponds to variant rs104894928dbSNPEnsembl.1
Natural variantiVAR_06532673S → P in XLRS1. 1 PublicationCorresponds to variant rs62645899dbSNPEnsembl.1
Natural variantiVAR_00818274G → V in XLRS1. 2 PublicationsCorresponds to variant rs104894933dbSNPEnsembl.1
Natural variantiVAR_02395985Missing in XLRS1. 1 Publication1
Natural variantiVAR_00821589Y → C in XLRS1. 1 PublicationCorresponds to variant rs61752060dbSNPEnsembl.1
Natural variantiVAR_00818396W → R in XLRS1. 2 PublicationsCorresponds to variant rs61752063dbSNPEnsembl.1
Natural variantiVAR_00821698A → E in XLRS1. 1 PublicationCorresponds to variant rs61752065dbSNPEnsembl.1
Natural variantiVAR_008217102R → Q in XLRS1. 3 PublicationsCorresponds to variant rs61752068dbSNPEnsembl.1
Natural variantiVAR_008184102R → W in XLRS1. 1 PublicationCorresponds to variant rs61752067dbSNPEnsembl.1
Natural variantiVAR_008218103L → R in XLRS1. Corresponds to variant rs61752069dbSNPEnsembl.1
Natural variantiVAR_008219108F → C in XLRS1. 1 PublicationCorresponds to variant rs61752072dbSNPEnsembl.1
Natural variantiVAR_008220109G → E in XLRS1. 1 PublicationCorresponds to variant rs281865345dbSNPEnsembl.1
Natural variantiVAR_008185109G → R in XLRS1. 1 PublicationCorresponds to variant rs104894934dbSNPEnsembl.1
Natural variantiVAR_008221109G → W in XLRS1. 1 PublicationCorresponds to variant rs104894934dbSNPEnsembl.1
Natural variantiVAR_008222110C → Y in XLRS1. Corresponds to variant rs61752075dbSNPEnsembl.1
Natural variantiVAR_008223112W → C in XLRS1. Corresponds to variant rs61752144dbSNPEnsembl.1
Natural variantiVAR_008224113L → F in XLRS1. Corresponds to variant rs61752145dbSNPEnsembl.1
Natural variantiVAR_008225127L → P in XLRS1. Corresponds to variant rs61752149dbSNPEnsembl.1
Natural variantiVAR_008226135G → V in XLRS1. Corresponds to variant rs61752152dbSNPEnsembl.1
Natural variantiVAR_008227136I → T in XLRS1. Corresponds to variant rs61752153dbSNPEnsembl.1
Natural variantiVAR_008228138T → A in XLRS1. Corresponds to variant rs61752154dbSNPEnsembl.1
Natural variantiVAR_008229140G → E in XLRS1. Corresponds to variant rs61752157dbSNPEnsembl.1
Natural variantiVAR_008230140G → R in XLRS1. 2 PublicationsCorresponds to variant rs61752156dbSNPEnsembl.1
Natural variantiVAR_008231141R → C in XLRS1. 2 PublicationsCorresponds to variant rs61752158dbSNPEnsembl.1
Natural variantiVAR_008232141R → G in XLRS1. Corresponds to variant rs61752158dbSNPEnsembl.1
Natural variantiVAR_008233141R → H in XLRS1. 1 PublicationCorresponds to variant rs61752159dbSNPEnsembl.1
Natural variantiVAR_008234142C → W in XLRS1. 1 PublicationCorresponds to variant rs1800001dbSNPEnsembl.1
Natural variantiVAR_008235143D → V in XLRS1. Corresponds to variant rs61753161dbSNPEnsembl.1
Natural variantiVAR_065327145D → H in XLRS1. 1 Publication1
Natural variantiVAR_008236146E → D in XLRS1. Corresponds to variant rs61753163dbSNPEnsembl.1
Natural variantiVAR_008237146E → K in XLRS1. 1 PublicationCorresponds to variant rs61753162dbSNPEnsembl.1
Natural variantiVAR_008238155Y → C in XLRS1. Corresponds to variant rs61753165dbSNPEnsembl.1
Natural variantiVAR_065328156R → G in XLRS1. 1 Publication1
Natural variantiVAR_008240163W → C in XLRS1. 1 PublicationCorresponds to variant rs61753166dbSNPEnsembl.1
Natural variantiVAR_008241178G → D in XLRS1. Corresponds to variant rs61753169dbSNPEnsembl.1
Natural variantiVAR_008242182R → C in XLRS1. 1 PublicationCorresponds to variant rs61753171dbSNPEnsembl.1
Natural variantiVAR_065329192P → L in XLRS1. 1 Publication1
Natural variantiVAR_008243192P → R in XLRS1. Corresponds to variant rs61753175dbSNPEnsembl.1
Natural variantiVAR_008244192P → S in XLRS1. 2 PublicationsCorresponds to variant rs61753174dbSNPEnsembl.1
Natural variantiVAR_008245193P → L in XLRS1. 1 PublicationCorresponds to variant rs281865352dbSNPEnsembl.1
Natural variantiVAR_008246193P → S in XLRS1. 1 PublicationCorresponds to variant rs281865351dbSNPEnsembl.1
Natural variantiVAR_008247197R → C in XLRS1. 1 PublicationCorresponds to variant rs281865354dbSNPEnsembl.1
Natural variantiVAR_008248197R → H in XLRS1. Corresponds to variant rs281865355dbSNPEnsembl.1
Natural variantiVAR_008249199I → T in XLRS1. Corresponds to variant rs281865356dbSNPEnsembl.1
Natural variantiVAR_008251200R → C in XLRS1. 3 PublicationsCorresponds to variant rs281865357dbSNPEnsembl.1
Natural variantiVAR_008252200R → H in XLRS1. 1 PublicationCorresponds to variant rs281865358dbSNPEnsembl.1
Natural variantiVAR_008253203P → L in XLRS1. 1 PublicationCorresponds to variant rs104894930dbSNPEnsembl.1
Natural variantiVAR_008254207H → Q in XLRS1. Corresponds to variant rs281865360dbSNPEnsembl.1
Natural variantiVAR_065330209R → C in XLRS1. 1 PublicationCorresponds to variant rs281865361dbSNPEnsembl.1
Natural variantiVAR_008255209R → H in XLRS1. 1 PublicationCorresponds to variant rs281865362dbSNPEnsembl.1
Natural variantiVAR_065331213R → Q in XLRS1. 1 PublicationCorresponds to variant rs281865364dbSNPEnsembl.1
Natural variantiVAR_008256213R → W in XLRS1. Corresponds to variant rs281865365dbSNPEnsembl.1
Natural variantiVAR_008257215E → K in XLRS1. 1 PublicationCorresponds to variant rs281865367dbSNPEnsembl.1
Natural variantiVAR_008258215E → Q in XLRS1. Corresponds to variant rs281865367dbSNPEnsembl.1
Natural variantiVAR_008259216L → P in XLRS1. Corresponds to variant rs281865368dbSNPEnsembl.1
Natural variantiVAR_008260219C → G in XLRS1. Corresponds to variant rs281865369dbSNPEnsembl.1
Natural variantiVAR_008261219C → R in XLRS1. Corresponds to variant rs281865369dbSNPEnsembl.1
Natural variantiVAR_008262223C → R in XLRS1. 2 PublicationsCorresponds to variant rs104894929dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6247.
MalaCardsiRS1.
MIMi312700. phenotype.
OpenTargetsiENSG00000102104.
Orphaneti792. X-linked retinoschisis.
PharmGKBiPA34871.

Polymorphism and mutation databases

BioMutaiRS1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000002269524 – 224RetinoschisinAdd BLAST201

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi40InterchainPROSITE-ProRule annotation1 Publication
Disulfide bondi59Interchain (with C-223)PROSITE-ProRule annotation1 Publication
Disulfide bondi63 ↔ 219PROSITE-ProRule annotation1 Publication
Disulfide bondi110 ↔ 142PROSITE-ProRule annotation1 Publication
Disulfide bondi223Interchain (with C-59)PROSITE-ProRule annotation1 Publication

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiO15537.
PeptideAtlasiO15537.
PRIDEiO15537.

PTM databases

iPTMnetiO15537.
PhosphoSitePlusiO15537.

Expressioni

Tissue specificityi

Restricted to the retina (at protein level). At the mRNA level, detected only within the photoreceptor cell layer, most prominently within the inner segments of the photoreceptors. Undetectable in the inner plexiform layers and the inner nuclear layer. At the protein level, found in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer. At the macula, expressed in both the outer and inner nuclear layers and in the inner plexiform layer (at protein level).1 Publication

Developmental stagei

Up-regulated during the differentiation of a retinoblastoma cell line.1 Publication

Gene expression databases

BgeeiENSG00000102104.
CleanExiHS_RS1.
GenevisibleiO15537. HS.

Interactioni

Subunit structurei

Homooctamer of 4 homodimers; disulfide-linked.1 Publication

Protein-protein interaction databases

BioGridi112161. 2 interactors.
IntActiO15537. 3 interactors.
STRINGi9606.ENSP00000369320.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JD6electron microscopy4.10O24-224[»]
ProteinModelPortaliO15537.
SMRiO15537.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini63 – 219F5/8 type CPROSITE-ProRule annotationAdd BLAST157

Sequence similaritiesi

Contains 1 F5/8 type C domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IIHQ. Eukaryota.
ENOG410YGW6. LUCA.
GeneTreeiENSGT00760000119073.
HOGENOMiHOG000006700.
HOVERGENiHBG061301.
InParanoidiO15537.
OMAiAWLSKYQ.
OrthoDBiEOG091G0HLO.
PhylomeDBiO15537.

Family and domain databases

Gene3Di2.60.120.260. 1 hit.
InterProiIPR000421. FA58C.
IPR008979. Galactose-bd-like.
[Graphical view]
PfamiPF00754. F5_F8_type_C. 1 hit.
[Graphical view]
SMARTiSM00231. FA58C. 1 hit.
[Graphical view]
SUPFAMiSSF49785. SSF49785. 1 hit.
PROSITEiPS01285. FA58C_1. 1 hit.
PS50022. FA58C_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O15537-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSRKIEGFLL LLLFGYEATL GLSSTEDEGE DPWYQKACKC DCQGGPNALW
60 70 80 90 100
SAGATSLDCI PECPYHKPLG FESGEVTPDQ ITCSNPEQYV GWYSSWTANK
110 120 130 140 150
ARLNSQGFGC AWLSKFQDSS QWLQIDLKEI KVISGILTQG RCDIDEWMTK
160 170 180 190 200
YSVQYRTDER LNWIYYKDQT GNNRVFYGNS DRTSTVQNLL RPPIISRFIR
210 220
LIPLGWHVRI AIRMELLECV SKCA
Length:224
Mass (Da):25,592
Last modified:August 1, 1998 - v2
Checksum:iA3893895E6A7E292
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00820912L → H in XLRS1. Corresponds to variant rs62645879dbSNPEnsembl.1
Natural variantiVAR_00821013L → P in XLRS1. 1 PublicationCorresponds to variant rs104894935dbSNPEnsembl.1
Natural variantiVAR_00821159C → S in XLRS1. Corresponds to variant rs62645889dbSNPEnsembl.1
Natural variantiVAR_00821265Y → C in XLRS1. Corresponds to variant rs62645892dbSNPEnsembl.1
Natural variantiVAR_00821370G → A in XLRS1. 1 Publication1
Natural variantiVAR_00821470G → S in XLRS1. 1 Publication1
Natural variantiVAR_00818072E → D in XLRS1. Corresponds to variant rs104894932dbSNPEnsembl.1
Natural variantiVAR_00818172E → K in XLRS1. 5 PublicationsCorresponds to variant rs104894928dbSNPEnsembl.1
Natural variantiVAR_06532673S → P in XLRS1. 1 PublicationCorresponds to variant rs62645899dbSNPEnsembl.1
Natural variantiVAR_00818274G → V in XLRS1. 2 PublicationsCorresponds to variant rs104894933dbSNPEnsembl.1
Natural variantiVAR_02395985Missing in XLRS1. 1 Publication1
Natural variantiVAR_00821589Y → C in XLRS1. 1 PublicationCorresponds to variant rs61752060dbSNPEnsembl.1
Natural variantiVAR_00818396W → R in XLRS1. 2 PublicationsCorresponds to variant rs61752063dbSNPEnsembl.1
Natural variantiVAR_00821698A → E in XLRS1. 1 PublicationCorresponds to variant rs61752065dbSNPEnsembl.1
Natural variantiVAR_008217102R → Q in XLRS1. 3 PublicationsCorresponds to variant rs61752068dbSNPEnsembl.1
Natural variantiVAR_008184102R → W in XLRS1. 1 PublicationCorresponds to variant rs61752067dbSNPEnsembl.1
Natural variantiVAR_008218103L → R in XLRS1. Corresponds to variant rs61752069dbSNPEnsembl.1
Natural variantiVAR_008219108F → C in XLRS1. 1 PublicationCorresponds to variant rs61752072dbSNPEnsembl.1
Natural variantiVAR_008220109G → E in XLRS1. 1 PublicationCorresponds to variant rs281865345dbSNPEnsembl.1
Natural variantiVAR_008185109G → R in XLRS1. 1 PublicationCorresponds to variant rs104894934dbSNPEnsembl.1
Natural variantiVAR_008221109G → W in XLRS1. 1 PublicationCorresponds to variant rs104894934dbSNPEnsembl.1
Natural variantiVAR_008222110C → Y in XLRS1. Corresponds to variant rs61752075dbSNPEnsembl.1
Natural variantiVAR_008223112W → C in XLRS1. Corresponds to variant rs61752144dbSNPEnsembl.1
Natural variantiVAR_008224113L → F in XLRS1. Corresponds to variant rs61752145dbSNPEnsembl.1
Natural variantiVAR_008225127L → P in XLRS1. Corresponds to variant rs61752149dbSNPEnsembl.1
Natural variantiVAR_008226135G → V in XLRS1. Corresponds to variant rs61752152dbSNPEnsembl.1
Natural variantiVAR_008227136I → T in XLRS1. Corresponds to variant rs61752153dbSNPEnsembl.1
Natural variantiVAR_008228138T → A in XLRS1. Corresponds to variant rs61752154dbSNPEnsembl.1
Natural variantiVAR_008229140G → E in XLRS1. Corresponds to variant rs61752157dbSNPEnsembl.1
Natural variantiVAR_008230140G → R in XLRS1. 2 PublicationsCorresponds to variant rs61752156dbSNPEnsembl.1
Natural variantiVAR_008231141R → C in XLRS1. 2 PublicationsCorresponds to variant rs61752158dbSNPEnsembl.1
Natural variantiVAR_008232141R → G in XLRS1. Corresponds to variant rs61752158dbSNPEnsembl.1
Natural variantiVAR_008233141R → H in XLRS1. 1 PublicationCorresponds to variant rs61752159dbSNPEnsembl.1
Natural variantiVAR_008234142C → W in XLRS1. 1 PublicationCorresponds to variant rs1800001dbSNPEnsembl.1
Natural variantiVAR_008235143D → V in XLRS1. Corresponds to variant rs61753161dbSNPEnsembl.1
Natural variantiVAR_065327145D → H in XLRS1. 1 Publication1
Natural variantiVAR_008236146E → D in XLRS1. Corresponds to variant rs61753163dbSNPEnsembl.1
Natural variantiVAR_008237146E → K in XLRS1. 1 PublicationCorresponds to variant rs61753162dbSNPEnsembl.1
Natural variantiVAR_008238155Y → C in XLRS1. Corresponds to variant rs61753165dbSNPEnsembl.1
Natural variantiVAR_065328156R → G in XLRS1. 1 Publication1
Natural variantiVAR_008239158D → N.Corresponds to variant rs1800002dbSNPEnsembl.1
Natural variantiVAR_008240163W → C in XLRS1. 1 PublicationCorresponds to variant rs61753166dbSNPEnsembl.1
Natural variantiVAR_008241178G → D in XLRS1. Corresponds to variant rs61753169dbSNPEnsembl.1
Natural variantiVAR_008242182R → C in XLRS1. 1 PublicationCorresponds to variant rs61753171dbSNPEnsembl.1
Natural variantiVAR_065329192P → L in XLRS1. 1 Publication1
Natural variantiVAR_008243192P → R in XLRS1. Corresponds to variant rs61753175dbSNPEnsembl.1
Natural variantiVAR_008244192P → S in XLRS1. 2 PublicationsCorresponds to variant rs61753174dbSNPEnsembl.1
Natural variantiVAR_008245193P → L in XLRS1. 1 PublicationCorresponds to variant rs281865352dbSNPEnsembl.1
Natural variantiVAR_008246193P → S in XLRS1. 1 PublicationCorresponds to variant rs281865351dbSNPEnsembl.1
Natural variantiVAR_008247197R → C in XLRS1. 1 PublicationCorresponds to variant rs281865354dbSNPEnsembl.1
Natural variantiVAR_008248197R → H in XLRS1. Corresponds to variant rs281865355dbSNPEnsembl.1
Natural variantiVAR_008249199I → T in XLRS1. Corresponds to variant rs281865356dbSNPEnsembl.1
Natural variantiVAR_008251200R → C in XLRS1. 3 PublicationsCorresponds to variant rs281865357dbSNPEnsembl.1
Natural variantiVAR_008252200R → H in XLRS1. 1 PublicationCorresponds to variant rs281865358dbSNPEnsembl.1
Natural variantiVAR_008253203P → L in XLRS1. 1 PublicationCorresponds to variant rs104894930dbSNPEnsembl.1
Natural variantiVAR_008254207H → Q in XLRS1. Corresponds to variant rs281865360dbSNPEnsembl.1
Natural variantiVAR_065330209R → C in XLRS1. 1 PublicationCorresponds to variant rs281865361dbSNPEnsembl.1
Natural variantiVAR_008255209R → H in XLRS1. 1 PublicationCorresponds to variant rs281865362dbSNPEnsembl.1
Natural variantiVAR_065331213R → Q in XLRS1. 1 PublicationCorresponds to variant rs281865364dbSNPEnsembl.1
Natural variantiVAR_008256213R → W in XLRS1. Corresponds to variant rs281865365dbSNPEnsembl.1
Natural variantiVAR_008257215E → K in XLRS1. 1 PublicationCorresponds to variant rs281865367dbSNPEnsembl.1
Natural variantiVAR_008258215E → Q in XLRS1. Corresponds to variant rs281865367dbSNPEnsembl.1
Natural variantiVAR_008259216L → P in XLRS1. Corresponds to variant rs281865368dbSNPEnsembl.1
Natural variantiVAR_008260219C → G in XLRS1. Corresponds to variant rs281865369dbSNPEnsembl.1
Natural variantiVAR_008261219C → R in XLRS1. Corresponds to variant rs281865369dbSNPEnsembl.1
Natural variantiVAR_012078222K → N.Corresponds to variant rs1800004dbSNPEnsembl.1
Natural variantiVAR_008262223C → R in XLRS1. 2 PublicationsCorresponds to variant rs104894929dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF018963
, AF018958, AF018959, AF018960, AF018961, AF018962 Genomic DNA. Translation: AAC18405.1.
AF014459 mRNA. Translation: AAC17928.1.
Z92542, Z94056 Genomic DNA. Translation: CAI42483.1.
Z94056, Z92542 Genomic DNA. Translation: CAI42776.1.
DQ426892 mRNA. Translation: ABD90543.1.
CCDSiCCDS14187.1.
RefSeqiNP_000321.1. NM_000330.3.
UniGeneiHs.715725.

Genome annotation databases

EnsembliENST00000379984; ENSP00000369320; ENSG00000102104.
GeneIDi6247.
KEGGihsa:6247.
UCSCiuc004cyo.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the RS1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF018963
, AF018958, AF018959, AF018960, AF018961, AF018962 Genomic DNA. Translation: AAC18405.1.
AF014459 mRNA. Translation: AAC17928.1.
Z92542, Z94056 Genomic DNA. Translation: CAI42483.1.
Z94056, Z92542 Genomic DNA. Translation: CAI42776.1.
DQ426892 mRNA. Translation: ABD90543.1.
CCDSiCCDS14187.1.
RefSeqiNP_000321.1. NM_000330.3.
UniGeneiHs.715725.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JD6electron microscopy4.10O24-224[»]
ProteinModelPortaliO15537.
SMRiO15537.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112161. 2 interactors.
IntActiO15537. 3 interactors.
STRINGi9606.ENSP00000369320.

PTM databases

iPTMnetiO15537.
PhosphoSitePlusiO15537.

Polymorphism and mutation databases

BioMutaiRS1.

Proteomic databases

PaxDbiO15537.
PeptideAtlasiO15537.
PRIDEiO15537.

Protocols and materials databases

DNASUi6247.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379984; ENSP00000369320; ENSG00000102104.
GeneIDi6247.
KEGGihsa:6247.
UCSCiuc004cyo.4. human.

Organism-specific databases

CTDi6247.
DisGeNETi6247.
GeneCardsiRS1.
GeneReviewsiRS1.
HGNCiHGNC:10457. RS1.
MalaCardsiRS1.
MIMi300839. gene.
312700. phenotype.
neXtProtiNX_O15537.
OpenTargetsiENSG00000102104.
Orphaneti792. X-linked retinoschisis.
PharmGKBiPA34871.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIHQ. Eukaryota.
ENOG410YGW6. LUCA.
GeneTreeiENSGT00760000119073.
HOGENOMiHOG000006700.
HOVERGENiHBG061301.
InParanoidiO15537.
OMAiAWLSKYQ.
OrthoDBiEOG091G0HLO.
PhylomeDBiO15537.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000102104-MONOMER.

Miscellaneous databases

GeneWikiiRetinoschisin.
GenomeRNAii6247.
PROiO15537.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102104.
CleanExiHS_RS1.
GenevisibleiO15537. HS.

Family and domain databases

Gene3Di2.60.120.260. 1 hit.
InterProiIPR000421. FA58C.
IPR008979. Galactose-bd-like.
[Graphical view]
PfamiPF00754. F5_F8_type_C. 1 hit.
[Graphical view]
SMARTiSM00231. FA58C. 1 hit.
[Graphical view]
SUPFAMiSSF49785. SSF49785. 1 hit.
PROSITEiPS01285. FA58C_1. 1 hit.
PS50022. FA58C_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiXLRS1_HUMAN
AccessioniPrimary (citable) accession number: O15537
Secondary accession number(s): Q0QD39
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: August 1, 1998
Last modified: November 2, 2016
This is version 148 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.