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Protein

Retinoschisin

Gene

RS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells (PubMed:27114531). Required for normal structure and function of the retina (PubMed:19093009).By similarity1 Publication1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • adaptation of rhodopsin mediated signaling Source: Ensembl
  • cell adhesion Source: ProtInc
  • multicellular organism development Source: ProtInc
  • protein homooligomerization Source: UniProtKB
  • retina layer formation Source: Ensembl
  • visual perception Source: UniProtKB

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion, Sensory transduction, Vision
LigandLipid-binding

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

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SIGNORi
O15537

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Retinoschisin
Alternative name(s):
X-linked juvenile retinoschisis protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RS1
Synonyms:XLRS1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000102104.8

Human Gene Nomenclature Database

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HGNCi
HGNC:10457 RS1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300839 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O15537

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinoschisis juvenile X-linked 1 (XLRS1)14 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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00820912L → H in XLRS1. Corresponds to variant dbSNP:rs62645879EnsemblClinVar.1
Natural variantiVAR_00821013L → P in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs104894935EnsemblClinVar.1
Natural variantiVAR_00821159C → S in XLRS1; loss of octamerization; no effect on secretion. 1 PublicationCorresponds to variant dbSNP:rs62645889EnsemblClinVar.1
Natural variantiVAR_00821265Y → C in XLRS1. Corresponds to variant dbSNP:rs62645892EnsemblClinVar.1
Natural variantiVAR_00821370G → A in XLRS1. 1 Publication1
Natural variantiVAR_00821470G → S in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs62645894EnsemblClinVar.1
Natural variantiVAR_00818072E → D in XLRS1. Corresponds to variant dbSNP:rs104894932EnsemblClinVar.1
Natural variantiVAR_08043972E → G in XLRS1. 1 Publication1
Natural variantiVAR_00818172E → K in XLRS1. 5 PublicationsCorresponds to variant dbSNP:rs104894928EnsemblClinVar.1
Natural variantiVAR_06532673S → P in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs62645899EnsemblClinVar.1
Natural variantiVAR_00818274G → V in XLRS1. 2 PublicationsCorresponds to variant dbSNP:rs104894933EnsemblClinVar.1
Natural variantiVAR_02395985Missing in XLRS1. 1 Publication1
Natural variantiVAR_00821589Y → C in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61752060EnsemblClinVar.1
Natural variantiVAR_00818396W → R in XLRS1. 2 PublicationsCorresponds to variant dbSNP:rs61752063EnsemblClinVar.1
Natural variantiVAR_00821698A → E in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61752065EnsemblClinVar.1
Natural variantiVAR_008217102R → Q in XLRS1. 3 PublicationsCorresponds to variant dbSNP:rs61752068EnsemblClinVar.1
Natural variantiVAR_008184102R → W in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61752067EnsemblClinVar.1
Natural variantiVAR_008218103L → R in XLRS1. Corresponds to variant dbSNP:rs61752069EnsemblClinVar.1
Natural variantiVAR_008219108F → C in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61752072EnsemblClinVar.1
Natural variantiVAR_008220109G → E in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865345EnsemblClinVar.1
Natural variantiVAR_008185109G → R in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs104894934EnsemblClinVar.1
Natural variantiVAR_008221109G → W in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs104894934EnsemblClinVar.1
Natural variantiVAR_008222110C → Y in XLRS1; loss of secretion into the extracellular space; may impair protein folding. 1 PublicationCorresponds to variant dbSNP:rs61752075EnsemblClinVar.1
Natural variantiVAR_008223112W → C in XLRS1. Corresponds to variant dbSNP:rs61752144EnsemblClinVar.1
Natural variantiVAR_008224113L → F in XLRS1. Corresponds to variant dbSNP:rs61752145EnsemblClinVar.1
Natural variantiVAR_008225127L → P in XLRS1. Corresponds to variant dbSNP:rs61752149EnsemblClinVar.1
Natural variantiVAR_008226135G → V in XLRS1. Corresponds to variant dbSNP:rs61752152EnsemblClinVar.1
Natural variantiVAR_008227136I → T in XLRS1. Corresponds to variant dbSNP:rs61752153EnsemblClinVar.1
Natural variantiVAR_008228138T → A in XLRS1. Corresponds to variant dbSNP:rs61752154EnsemblClinVar.1
Natural variantiVAR_008229140G → E in XLRS1. Corresponds to variant dbSNP:rs61752157EnsemblClinVar.1
Natural variantiVAR_008230140G → R in XLRS1. 2 PublicationsCorresponds to variant dbSNP:rs61752156EnsemblClinVar.1
Natural variantiVAR_008231141R → C in XLRS1. 2 PublicationsCorresponds to variant dbSNP:rs61752158EnsemblClinVar.1
Natural variantiVAR_008232141R → G in XLRS1. Corresponds to variant dbSNP:rs61752158EnsemblClinVar.1
Natural variantiVAR_008233141R → H in XLRS1; no effect on oligomerization; no effect on protein stability. 3 PublicationsCorresponds to variant dbSNP:rs61752159EnsemblClinVar.1
Natural variantiVAR_008234142C → W in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs1800001EnsemblClinVar.1
Natural variantiVAR_008235143D → V in XLRS1. Corresponds to variant dbSNP:rs61753161EnsemblClinVar.1
Natural variantiVAR_065327145D → H in XLRS1. 1 Publication1
Natural variantiVAR_008236146E → D in XLRS1. Corresponds to variant dbSNP:rs61753163EnsemblClinVar.1
Natural variantiVAR_008237146E → K in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61753162EnsemblClinVar.1
Natural variantiVAR_008238155Y → C in XLRS1. Corresponds to variant dbSNP:rs61753165EnsemblClinVar.1
Natural variantiVAR_065328156R → G in XLRS1. 1 Publication1
Natural variantiVAR_008240163W → C in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61753166EnsemblClinVar.1
Natural variantiVAR_008241178G → D in XLRS1. Corresponds to variant dbSNP:rs61753169EnsemblClinVar.1
Natural variantiVAR_008242182R → C in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61753171EnsemblClinVar.1
Natural variantiVAR_065329192P → L in XLRS1. 1 Publication1
Natural variantiVAR_008243192P → R in XLRS1. Corresponds to variant dbSNP:rs61753175EnsemblClinVar.1
Natural variantiVAR_008244192P → S in XLRS1. 2 PublicationsCorresponds to variant dbSNP:rs61753174EnsemblClinVar.1
Natural variantiVAR_008245193P → L in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865352EnsemblClinVar.1
Natural variantiVAR_008246193P → S in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865351EnsemblClinVar.1
Natural variantiVAR_008247197R → C in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865354EnsemblClinVar.1
Natural variantiVAR_008248197R → H in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865355EnsemblClinVar.1
Natural variantiVAR_008249199I → T in XLRS1. Corresponds to variant dbSNP:rs281865356EnsemblClinVar.1
Natural variantiVAR_008251200R → C in XLRS1. 4 PublicationsCorresponds to variant dbSNP:rs281865357EnsemblClinVar.1
Natural variantiVAR_008252200R → H in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865358EnsemblClinVar.1
Natural variantiVAR_008253203P → L in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs104894930EnsemblClinVar.1
Natural variantiVAR_080440206W → C in XLRS1. 1 Publication1
Natural variantiVAR_008254207H → Q in XLRS1; decreases protein stability; does not abrogate oligomerization or secretion. 1 PublicationCorresponds to variant dbSNP:rs281865360EnsemblClinVar.1
Natural variantiVAR_065330209R → C in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865361EnsemblClinVar.1
Natural variantiVAR_008255209R → H in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865362EnsemblClinVar.1
Natural variantiVAR_065331213R → Q in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865364EnsemblClinVar.1
Natural variantiVAR_008256213R → W in XLRS1. Corresponds to variant dbSNP:rs281865365EnsemblClinVar.1
Natural variantiVAR_008257215E → K in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865367EnsemblClinVar.1
Natural variantiVAR_008258215E → Q in XLRS1. Corresponds to variant dbSNP:rs281865367EnsemblClinVar.1
Natural variantiVAR_008259216L → P in XLRS1. Corresponds to variant dbSNP:rs281865368EnsemblClinVar.1
Natural variantiVAR_008260219C → G in XLRS1. Corresponds to variant dbSNP:rs281865369EnsemblClinVar.1
Natural variantiVAR_008261219C → R in XLRS1. Corresponds to variant dbSNP:rs281865369EnsemblClinVar.1
Natural variantiVAR_008262223C → R in XLRS1. 2 PublicationsCorresponds to variant dbSNP:rs104894929EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6247

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
RS1

MalaCards human disease database

More...
MalaCardsi
RS1
MIMi312700 phenotype

Open Targets

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OpenTargetsi
ENSG00000102104

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
792 X-linked retinoschisis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA34871

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RS1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002269524 – 224RetinoschisinAdd BLAST201

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi40InterchainPROSITE-ProRule annotation1 Publication
Disulfide bondi59Interchain (with C-223)PROSITE-ProRule annotation1 Publication
Disulfide bondi63 ↔ 219PROSITE-ProRule annotationCombined sources1 Publication
Disulfide bondi110 ↔ 142PROSITE-ProRule annotationCombined sources1 Publication
Disulfide bondi223Interchain (with C-59)PROSITE-ProRule annotation1 Publication

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O15537

PeptideAtlas

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PeptideAtlasi
O15537

PRoteomics IDEntifications database

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PRIDEi
O15537

ProteomicsDB human proteome resource

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ProteomicsDBi
48745

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O15537

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O15537

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Restricted to the retina (at protein level) (PubMed:10915776). Detected in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer (at protein level). At the macula, expressed in both the outer and inner nuclear layers and in the inner plexiform layer (at protein level) (PubMed:10915776). Detected in retina (PubMed:9326935). Detected only within the photoreceptor cell layer, most prominently within the inner segments of the photoreceptors (PubMed:10915776). Undetectable in the inner plexiform layers and the inner nuclear layer (PubMed:10915776).2 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000102104 Expressed in 41 organ(s), highest expression level in eye

CleanEx database of gene expression profiles

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CleanExi
HS_RS1

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O15537 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA059546

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooctamer of 4 homodimers; disulfide-linked (PubMed:15644328, PubMed:19849666). The homooctamer has a flat, cogwheel structure with a diameter of about 14 nm (PubMed:27798099, PubMed:26812435, PubMed:27114531). Two stacked octamers can assemble to form a hexadecamer (PubMed:27798099, PubMed:26812435, PubMed:27114531).5 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112161, 2 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O15537

Protein interaction database and analysis system

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IntActi
O15537, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000369320

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3JD6electron microscopy4.10O24-224[»]
5N6Welectron microscopy4.20A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P24-224[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O15537

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O15537

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini63 – 219F5/8 type CPROSITE-ProRule annotationAdd BLAST157

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IIHQ Eukaryota
ENOG410YGW6 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161181

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000006700

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG061301

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O15537

Identification of Orthologs from Complete Genome Data

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OMAi
WLSKFND

Database of Orthologous Groups

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OrthoDBi
1047682at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O15537

Family and domain databases

Conserved Domains Database

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CDDi
cd00057 FA58C, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.120.260, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000421 FA58C
IPR008979 Galactose-bd-like_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF00754 F5_F8_type_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00231 FA58C, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49785 SSF49785, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS01285 FA58C_1, 1 hit
PS50022 FA58C_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA3893895E6A7E292
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00820912L → H in XLRS1. Corresponds to variant dbSNP:rs62645879EnsemblClinVar.1
Natural variantiVAR_00821013L → P in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs104894935EnsemblClinVar.1
Natural variantiVAR_00821159C → S in XLRS1; loss of octamerization; no effect on secretion. 1 PublicationCorresponds to variant dbSNP:rs62645889EnsemblClinVar.1
Natural variantiVAR_00821265Y → C in XLRS1. Corresponds to variant dbSNP:rs62645892EnsemblClinVar.1
Natural variantiVAR_00821370G → A in XLRS1. 1 Publication1
Natural variantiVAR_00821470G → S in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs62645894EnsemblClinVar.1
Natural variantiVAR_00818072E → D in XLRS1. Corresponds to variant dbSNP:rs104894932EnsemblClinVar.1
Natural variantiVAR_08043972E → G in XLRS1. 1 Publication1
Natural variantiVAR_00818172E → K in XLRS1. 5 PublicationsCorresponds to variant dbSNP:rs104894928EnsemblClinVar.1
Natural variantiVAR_06532673S → P in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs62645899EnsemblClinVar.1
Natural variantiVAR_00818274G → V in XLRS1. 2 PublicationsCorresponds to variant dbSNP:rs104894933EnsemblClinVar.1
Natural variantiVAR_02395985Missing in XLRS1. 1 Publication1
Natural variantiVAR_00821589Y → C in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61752060EnsemblClinVar.1
Natural variantiVAR_00818396W → R in XLRS1. 2 PublicationsCorresponds to variant dbSNP:rs61752063EnsemblClinVar.1
Natural variantiVAR_00821698A → E in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61752065EnsemblClinVar.1
Natural variantiVAR_008217102R → Q in XLRS1. 3 PublicationsCorresponds to variant dbSNP:rs61752068EnsemblClinVar.1
Natural variantiVAR_008184102R → W in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61752067EnsemblClinVar.1
Natural variantiVAR_008218103L → R in XLRS1. Corresponds to variant dbSNP:rs61752069EnsemblClinVar.1
Natural variantiVAR_008219108F → C in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61752072EnsemblClinVar.1
Natural variantiVAR_008220109G → E in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865345EnsemblClinVar.1
Natural variantiVAR_008185109G → R in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs104894934EnsemblClinVar.1
Natural variantiVAR_008221109G → W in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs104894934EnsemblClinVar.1
Natural variantiVAR_008222110C → Y in XLRS1; loss of secretion into the extracellular space; may impair protein folding. 1 PublicationCorresponds to variant dbSNP:rs61752075EnsemblClinVar.1
Natural variantiVAR_008223112W → C in XLRS1. Corresponds to variant dbSNP:rs61752144EnsemblClinVar.1
Natural variantiVAR_008224113L → F in XLRS1. Corresponds to variant dbSNP:rs61752145EnsemblClinVar.1
Natural variantiVAR_008225127L → P in XLRS1. Corresponds to variant dbSNP:rs61752149EnsemblClinVar.1
Natural variantiVAR_008226135G → V in XLRS1. Corresponds to variant dbSNP:rs61752152EnsemblClinVar.1
Natural variantiVAR_008227136I → T in XLRS1. Corresponds to variant dbSNP:rs61752153EnsemblClinVar.1
Natural variantiVAR_008228138T → A in XLRS1. Corresponds to variant dbSNP:rs61752154EnsemblClinVar.1
Natural variantiVAR_008229140G → E in XLRS1. Corresponds to variant dbSNP:rs61752157EnsemblClinVar.1
Natural variantiVAR_008230140G → R in XLRS1. 2 PublicationsCorresponds to variant dbSNP:rs61752156EnsemblClinVar.1
Natural variantiVAR_008231141R → C in XLRS1. 2 PublicationsCorresponds to variant dbSNP:rs61752158EnsemblClinVar.1
Natural variantiVAR_008232141R → G in XLRS1. Corresponds to variant dbSNP:rs61752158EnsemblClinVar.1
Natural variantiVAR_008233141R → H in XLRS1; no effect on oligomerization; no effect on protein stability. 3 PublicationsCorresponds to variant dbSNP:rs61752159EnsemblClinVar.1
Natural variantiVAR_008234142C → W in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs1800001EnsemblClinVar.1
Natural variantiVAR_008235143D → V in XLRS1. Corresponds to variant dbSNP:rs61753161EnsemblClinVar.1
Natural variantiVAR_065327145D → H in XLRS1. 1 Publication1
Natural variantiVAR_008236146E → D in XLRS1. Corresponds to variant dbSNP:rs61753163EnsemblClinVar.1
Natural variantiVAR_008237146E → K in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61753162EnsemblClinVar.1
Natural variantiVAR_008238155Y → C in XLRS1. Corresponds to variant dbSNP:rs61753165EnsemblClinVar.1
Natural variantiVAR_065328156R → G in XLRS1. 1 Publication1
Natural variantiVAR_008239158D → N. Corresponds to variant dbSNP:rs1800002EnsemblClinVar.1
Natural variantiVAR_008240163W → C in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61753166EnsemblClinVar.1
Natural variantiVAR_008241178G → D in XLRS1. Corresponds to variant dbSNP:rs61753169EnsemblClinVar.1
Natural variantiVAR_008242182R → C in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs61753171EnsemblClinVar.1
Natural variantiVAR_065329192P → L in XLRS1. 1 Publication1
Natural variantiVAR_008243192P → R in XLRS1. Corresponds to variant dbSNP:rs61753175EnsemblClinVar.1
Natural variantiVAR_008244192P → S in XLRS1. 2 PublicationsCorresponds to variant dbSNP:rs61753174EnsemblClinVar.1
Natural variantiVAR_008245193P → L in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865352EnsemblClinVar.1
Natural variantiVAR_008246193P → S in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865351EnsemblClinVar.1
Natural variantiVAR_008247197R → C in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865354EnsemblClinVar.1
Natural variantiVAR_008248197R → H in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865355EnsemblClinVar.1
Natural variantiVAR_008249199I → T in XLRS1. Corresponds to variant dbSNP:rs281865356EnsemblClinVar.1
Natural variantiVAR_008251200R → C in XLRS1. 4 PublicationsCorresponds to variant dbSNP:rs281865357EnsemblClinVar.1
Natural variantiVAR_008252200R → H in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865358EnsemblClinVar.1
Natural variantiVAR_008253203P → L in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs104894930EnsemblClinVar.1
Natural variantiVAR_080440206W → C in XLRS1. 1 Publication1
Natural variantiVAR_008254207H → Q in XLRS1; decreases protein stability; does not abrogate oligomerization or secretion. 1 PublicationCorresponds to variant dbSNP:rs281865360EnsemblClinVar.1
Natural variantiVAR_065330209R → C in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865361EnsemblClinVar.1
Natural variantiVAR_008255209R → H in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865362EnsemblClinVar.1
Natural variantiVAR_065331213R → Q in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865364EnsemblClinVar.1
Natural variantiVAR_008256213R → W in XLRS1. Corresponds to variant dbSNP:rs281865365EnsemblClinVar.1
Natural variantiVAR_008257215E → K in XLRS1. 1 PublicationCorresponds to variant dbSNP:rs281865367EnsemblClinVar.1
Natural variantiVAR_008258215E → Q in XLRS1. Corresponds to variant dbSNP:rs281865367EnsemblClinVar.1
Natural variantiVAR_008259216L → P in XLRS1. Corresponds to variant dbSNP:rs281865368EnsemblClinVar.1
Natural variantiVAR_008260219C → G in XLRS1. Corresponds to variant dbSNP:rs281865369EnsemblClinVar.1
Natural variantiVAR_008261219C → R in XLRS1. Corresponds to variant dbSNP:rs281865369EnsemblClinVar.1
Natural variantiVAR_012078222K → N. Corresponds to variant dbSNP:rs1800004EnsemblClinVar.1
Natural variantiVAR_008262223C → R in XLRS1. 2 PublicationsCorresponds to variant dbSNP:rs104894929EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF018963
, AF018958, AF018959, AF018960, AF018961, AF018962 Genomic DNA Translation: AAC18405.1
AF014459 mRNA Translation: AAC17928.1
Z92542 Genomic DNA No translation available.
Z94056 Genomic DNA No translation available.
DQ426892 mRNA Translation: ABD90543.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14187.1

NCBI Reference Sequences

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RefSeqi
NP_000321.1, NM_000330.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.715725

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000379984; ENSP00000369320; ENSG00000102104

Database of genes from NCBI RefSeq genomes

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GeneIDi
6247

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6247

UCSC genome browser

More...
UCSCi
uc004cyo.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 Genomic DNA No translation available.
Z94056 Genomic DNA No translation available.
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[»]
5N6Welectron microscopy4.20A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P24-224[»]
ProteinModelPortaliO15537
SMRiO15537
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112161, 2 interactors
CORUMiO15537
IntActiO15537, 4 interactors
STRINGi9606.ENSP00000369320

PTM databases

iPTMnetiO15537
PhosphoSitePlusiO15537

Polymorphism and mutation databases

BioMutaiRS1

Proteomic databases

PaxDbiO15537
PeptideAtlasiO15537
PRIDEiO15537
ProteomicsDBi48745

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6247
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6247
DisGeNETi6247
EuPathDBiHostDB:ENSG00000102104.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RS1
GeneReviewsiRS1
HGNCiHGNC:10457 RS1
HPAiHPA059546
MalaCardsiRS1
MIMi300839 gene
312700 phenotype
neXtProtiNX_O15537
OpenTargetsiENSG00000102104
Orphaneti792 X-linked retinoschisis
PharmGKBiPA34871

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IIHQ Eukaryota
ENOG410YGW6 LUCA
GeneTreeiENSGT00940000161181
HOGENOMiHOG000006700
HOVERGENiHBG061301
InParanoidiO15537
OMAiWLSKFND
OrthoDBi1047682at2759
PhylomeDBiO15537

Enzyme and pathway databases

SIGNORiO15537

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Retinoschisin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6247

Protein Ontology

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PROi
PR:O15537

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000102104 Expressed in 41 organ(s), highest expression level in eye
CleanExiHS_RS1
GenevisibleiO15537 HS

Family and domain databases

CDDicd00057 FA58C, 1 hit
Gene3Di2.60.120.260, 1 hit
InterProiView protein in InterPro
IPR000421 FA58C
IPR008979 Galactose-bd-like_sf
PfamiView protein in Pfam
PF00754 F5_F8_type_C, 1 hit
SMARTiView protein in SMART
SM00231 FA58C, 1 hit
SUPFAMiSSF49785 SSF49785, 1 hit
PROSITEiView protein in PROSITE
PS01285 FA58C_1, 1 hit
PS50022 FA58C_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiXLRS1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O15537
Secondary accession number(s): Q0QD39
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: August 1, 1998
Last modified: January 16, 2019
This is version 162 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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
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