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Protein

Cystinosin

Gene

CTNS

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

Cystine/H+ symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR.1 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

  • L-cystine transmembrane transporter activity Source: UniProtKB

GO - Biological processi

<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 processMelanin biosynthesis, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides
R-HSA-5223345 Miscellaneous transport and binding events

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.43.1.1 the lysosomal cystine transporter (lct) family

<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:
Cystinosin
<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:CTNS
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000040531.14

Human Gene Nomenclature Database

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HGNCi
HGNC:2518 CTNS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606272 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60931

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 121LumenalSequence analysisAdd BLAST121
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei122 – 142HelicalSequence analysisAdd BLAST21
Topological domaini143 – 161CytoplasmicSequence analysisAdd BLAST19
Transmembranei162 – 182HelicalSequence analysisAdd BLAST21
Topological domaini183 – 205LumenalSequence analysisAdd BLAST23
Transmembranei206 – 226HelicalSequence analysisAdd BLAST21
Topological domaini227 – 237CytoplasmicSequence analysisAdd BLAST11
Transmembranei238 – 258HelicalSequence analysisAdd BLAST21
Topological domaini259 – 261LumenalSequence analysis3
Transmembranei262 – 282HelicalSequence analysisAdd BLAST21
Topological domaini283 – 297CytoplasmicSequence analysisAdd BLAST15
Transmembranei298 – 318HelicalSequence analysisAdd BLAST21
Topological domaini319 – 335LumenalSequence analysisAdd BLAST17
Transmembranei336 – 356HelicalSequence analysisAdd BLAST21
Topological domaini357 – 367CytoplasmicSequence analysisAdd BLAST11

Keywords - Cellular componenti

Cell membrane, Lysosome, Membrane

<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

Cystinosis, nephropathic type (CTNS)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications.
See also OMIM:219800
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_037318110G → V in CTNS; atypical. 1 PublicationCorresponds to variant dbSNP:rs121908129EnsemblClinVar.1
Natural variantiVAR_010677133I → F in CTNS. 1 PublicationCorresponds to variant dbSNP:rs886040970Ensembl.1
Natural variantiVAR_010678139S → F in CTNS; atypical. 1 PublicationCorresponds to variant dbSNP:rs267606754EnsemblClinVar.1
Natural variantiVAR_067490151R → G in CTNS. 1 Publication1
Natural variantiVAR_067491157G → D in CTNS. 1 Publication1
Natural variantiVAR_010680158L → P in CTNS. 1 PublicationCorresponds to variant dbSNP:rs113994206EnsemblClinVar.1
Natural variantiVAR_010286169G → D in CTNS. 1 PublicationCorresponds to variant dbSNP:rs121908126EnsemblClinVar.1
Natural variantiVAR_067492173Y → C in CTNS. 1 Publication1
Natural variantiVAR_067493177N → S in CTNS. 1 Publication1
Natural variantiVAR_010681182W → R in CTNS. 1 PublicationCorresponds to variant dbSNP:rs764168489EnsemblClinVar.1
Natural variantiVAR_010683205D → N in CTNS. 1 PublicationCorresponds to variant dbSNP:rs113994208EnsemblClinVar.1
Natural variantiVAR_010684205Missing in CTNS. 1 Publication1
Natural variantiVAR_037321222Q → R in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1327959008Ensembl.1
Natural variantiVAR_010689270Missing in CTNS. 1 Publication1
Natural variantiVAR_067494287M → I in CTNS. 1 PublicationCorresponds to variant dbSNP:rs922106812Ensembl.1
Natural variantiVAR_037322288N → K in CTNS. 1 Publication1
Natural variantiVAR_012315298S → N in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1212133760Ensembl.1
Natural variantiVAR_010690305D → G in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1263951539Ensembl.1
Natural variantiVAR_010691305D → Y in CTNS. 1 Publication1
Natural variantiVAR_010692308G → R in CTNS. 3 PublicationsCorresponds to variant dbSNP:rs746307931EnsemblClinVar.1
Natural variantiVAR_067495308G → V in CTNS. 1 PublicationCorresponds to variant dbSNP:rs908965524Ensembl.1
Natural variantiVAR_067496309G → D in CTNS. 1 Publication1
Natural variantiVAR_067497337G → R in CTNS. 1 Publication1
Natural variantiVAR_010694338L → P in CTNS. 1 Publication1
Natural variantiVAR_067498338L → R in CTNS. 1 Publication1
Natural variantiVAR_010695339G → R in CTNS. 4 PublicationsCorresponds to variant dbSNP:rs121908127EnsemblClinVar.1
Natural variantiVAR_010697343 – 346Missing in CTNS. 4
Natural variantiVAR_037323346 – 349Missing in CTNS. 4
Natural variantiVAR_010698346D → N in CTNS; atypical. 1 PublicationCorresponds to variant dbSNP:rs757535731Ensembl.1
Natural variantiVAR_037324349F → FDVEF in CTNS. 1
Cystinosis, adult, non-nephropathic type (CTNSANN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benign course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals.
See also OMIM:219750
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010682197G → R in CTNSANN. 1 PublicationCorresponds to variant dbSNP:rs113994207EnsemblClinVar.1
Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis is an intermediated form, manifesting first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features.
See also OMIM:219900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01067467 – 73Missing in CTNSJAN. 1 Publication7
Natural variantiVAR_010679154S → SPCS in CTNSJAN. 1
Natural variantiVAR_037319177N → T in CTNSJAN. 1 Publication1
Natural variantiVAR_037320200P → L in CTNSJAN. 1 Publication1
Natural variantiVAR_010287280K → R in CTNSJAN. 1 Publication1
Natural variantiVAR_010288323N → K in CTNSJAN. 2 PublicationsCorresponds to variant dbSNP:rs121908128EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1497

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

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GeneReviewsi
CTNS

MalaCards human disease database

More...
MalaCardsi
CTNS
MIMi219750 phenotype
219800 phenotype
219900 phenotype

Open Targets

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OpenTargetsi
ENSG00000040531

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

More...
Orphaneti
411634 Juvenile nephropathic cystinosis
411629 Nephropathic infantile cystinosis
411641 Ocular cystinosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27019

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00138 L-Cystine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CTNS

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002055141 – 367CystinosinAdd BLAST367

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi36N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi41N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi51N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi66N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi84N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi104N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi107N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

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

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PaxDbi
O60931

PeptideAtlas

More...
PeptideAtlasi
O60931

PRoteomics IDEntifications database

More...
PRIDEi
O60931

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49676
49677 [O60931-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60931

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

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PhosphoSitePlusi
O60931

<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

Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal). Isoform 2 represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000040531 Expressed in 192 organ(s), highest expression level in adult mammalian kidney

CleanEx database of gene expression profiles

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CleanExi
HS_CTNS

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O60931 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O60931 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA046947

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107878, 1 interactor

Protein interaction database and analysis system

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IntActi
O60931, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000371294

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O60931

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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>Domaini123 – 189PQ-loop 1Add BLAST67
Domaini263 – 328PQ-loop 2Add BLAST66

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi362 – 366Lysosomal targeting motifSequence analysis5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the cystinosin family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3145 Eukaryota
ENOG410XQSD LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000005338

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000192503

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG003083

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O60931

KEGG Orthology (KO)

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KOi
K12386

Identification of Orthologs from Complete Genome Data

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OMAi
HSNQTGP

Database of Orthologous Groups

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OrthoDBi
906547at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O60931

TreeFam database of animal gene trees

More...
TreeFami
TF313589

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR005282 LC_transporter
IPR006603 PQ-loop_rpt

The PANTHER Classification System

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PANTHERi
PTHR13131 PTHR13131, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04193 PQ-loop, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00679 CTNS, 2 hits

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00951 2A43, 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>Sequences (2+)i

<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.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60931-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRPPL
60 70 80 90 100
NATLVITFEI TFRSKNITIL ELPDEVVVPP GVTNSSFQVT SQNVGQLTVY
110 120 130 140 150
LHGNHSNQTG PRIRFLVIRS SAISIINQVI GWIYFVAWSI SFYPQVIMNW
160 170 180 190 200
RRKSVIGLSF DFVALNLTGF VAYSVFNIGL LWVPYIKEQF LLKYPNGVNP
210 220 230 240 250
VNSNDVFFSL HAVVLTLIII VQCCLYERGG QRVSWPAIGF LVLAWLFAFV
260 270 280 290 300
TMIVAAVGVT TWLQFLFCFS YIKLAVTLVK YFPQAYMNFY YKSTEGWSIG
310 320 330 340 350
NVLLDFTGGS FSLLQMFLQS YNNDQWTLIF GDPTKFGLGV FSIVFDVVFF
360
IQHFCLYRKR PGYDQLN
Length:367
Mass (Da):41,738
Last modified:November 24, 2009 - 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:i9343889CD7576908
GO
Isoform 2 (identifier: O60931-2) [UniParc]FASTAAdd to basket
Also known as: cystinosin-LKG

The sequence of this isoform differs from the canonical sequence as follows:
     363-367: YDQLN → LQAARTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG

Show »
Length:400
Mass (Da):45,039
Checksum:i47AF39E14090DFC2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L0Z6I3L0Z6_HUMAN
Cystinosin
CTNS
162Annotation score:

Annotation score:1 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>
I3L1K8I3L1K8_HUMAN
Cystinosin
CTNS
28Annotation score:

Annotation score:1 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>
A8MXW3A8MXW3_HUMAN
Cystinosin
CTNS
122Annotation score:

Annotation score:1 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>
I3L484I3L484_HUMAN
Cystinosin
CTNS
53Annotation score:

Annotation score:1 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>
C9JMM9C9JMM9_HUMAN
Cystinosin
CTNS
75Annotation score:

Annotation score:1 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>
I3L4A9I3L4A9_HUMAN
Cystinosin
CTNS
20Annotation score:

Annotation score:1 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01028542V → I1 PublicationCorresponds to variant dbSNP:rs35086888EnsemblClinVar.1
Natural variantiVAR_01067467 – 73Missing in CTNSJAN. 1 Publication7
Natural variantiVAR_037318110G → V in CTNS; atypical. 1 PublicationCorresponds to variant dbSNP:rs121908129EnsemblClinVar.1
Natural variantiVAR_010677133I → F in CTNS. 1 PublicationCorresponds to variant dbSNP:rs886040970Ensembl.1
Natural variantiVAR_010678139S → F in CTNS; atypical. 1 PublicationCorresponds to variant dbSNP:rs267606754EnsemblClinVar.1
Natural variantiVAR_067490151R → G in CTNS. 1 Publication1
Natural variantiVAR_010679154S → SPCS in CTNSJAN. 1
Natural variantiVAR_067491157G → D in CTNS. 1 Publication1
Natural variantiVAR_010680158L → P in CTNS. 1 PublicationCorresponds to variant dbSNP:rs113994206EnsemblClinVar.1
Natural variantiVAR_010286169G → D in CTNS. 1 PublicationCorresponds to variant dbSNP:rs121908126EnsemblClinVar.1
Natural variantiVAR_067492173Y → C in CTNS. 1 Publication1
Natural variantiVAR_067493177N → S in CTNS. 1 Publication1
Natural variantiVAR_037319177N → T in CTNSJAN. 1 Publication1
Natural variantiVAR_010681182W → R in CTNS. 1 PublicationCorresponds to variant dbSNP:rs764168489EnsemblClinVar.1
Natural variantiVAR_010682197G → R in CTNSANN. 1 PublicationCorresponds to variant dbSNP:rs113994207EnsemblClinVar.1
Natural variantiVAR_037320200P → L in CTNSJAN. 1 Publication1
Natural variantiVAR_010683205D → N in CTNS. 1 PublicationCorresponds to variant dbSNP:rs113994208EnsemblClinVar.1
Natural variantiVAR_010684205Missing in CTNS. 1 Publication1
Natural variantiVAR_037321222Q → R in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1327959008Ensembl.1
Natural variantiVAR_060371260T → I7 PublicationsCorresponds to variant dbSNP:rs161400EnsemblClinVar.1
Natural variantiVAR_010689270Missing in CTNS. 1 Publication1
Natural variantiVAR_010287280K → R in CTNSJAN. 1 Publication1
Natural variantiVAR_067494287M → I in CTNS. 1 PublicationCorresponds to variant dbSNP:rs922106812Ensembl.1
Natural variantiVAR_037322288N → K in CTNS. 1 Publication1
Natural variantiVAR_012314292K → R Found in patients with cystinosis; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1800527Ensembl.1
Natural variantiVAR_012315298S → N in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1212133760Ensembl.1
Natural variantiVAR_010690305D → G in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1263951539Ensembl.1
Natural variantiVAR_010691305D → Y in CTNS. 1 Publication1
Natural variantiVAR_010692308G → R in CTNS. 3 PublicationsCorresponds to variant dbSNP:rs746307931EnsemblClinVar.1
Natural variantiVAR_067495308G → V in CTNS. 1 PublicationCorresponds to variant dbSNP:rs908965524Ensembl.1
Natural variantiVAR_067496309G → D in CTNS. 1 Publication1
Natural variantiVAR_010288323N → K in CTNSJAN. 2 PublicationsCorresponds to variant dbSNP:rs121908128EnsemblClinVar.1
Natural variantiVAR_067497337G → R in CTNS. 1 Publication1
Natural variantiVAR_010694338L → P in CTNS. 1 Publication1
Natural variantiVAR_067498338L → R in CTNS. 1 Publication1
Natural variantiVAR_010695339G → R in CTNS. 4 PublicationsCorresponds to variant dbSNP:rs121908127EnsemblClinVar.1
Natural variantiVAR_010697343 – 346Missing in CTNS. 4
Natural variantiVAR_037323346 – 349Missing in CTNS. 4
Natural variantiVAR_010698346D → N in CTNS; atypical. 1 PublicationCorresponds to variant dbSNP:rs757535731Ensembl.1
Natural variantiVAR_037324349F → FDVEF in CTNS. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_038377363 – 367YDQLN → LQAARTGSGSRLRQDWAPSL QPKALPQTTSVSASSLKG in isoform 2. 2 Publications5

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Y15924
, Y15925, Y15926, Y15927, Y15928, Y15929, Y15930, Y15931, Y15932, Y15933 Genomic DNA Translation: CAA75882.1
AJ222967 mRNA Translation: CAA11021.1
AF168787 Genomic DNA Translation: AAF43102.1
AK292019 mRNA Translation: BAF84708.1
AC027796 Genomic DNA No translation available.
AC132942 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90495.1
CH471108 Genomic DNA Translation: EAW90494.1
CH471108 Genomic DNA Translation: EAW90496.1
BC032850 mRNA Translation: AAH32850.1
AH008011 Genomic DNA Translation: AAD45630.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11031.1 [O60931-1]
CCDS32530.1 [O60931-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001026851.2, NM_001031681.2 [O60931-2]
NP_004928.2, NM_004937.2 [O60931-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.187667

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000046640; ENSP00000046640; ENSG00000040531 [O60931-1]
ENST00000381870; ENSP00000371294; ENSG00000040531 [O60931-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1497

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1497

UCSC genome browser

More...
UCSCi
uc002fwa.4 human [O60931-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y15924
, Y15925, Y15926, Y15927, Y15928, Y15929, Y15930, Y15931, Y15932, Y15933 Genomic DNA Translation: CAA75882.1
AJ222967 mRNA Translation: CAA11021.1
AF168787 Genomic DNA Translation: AAF43102.1
AK292019 mRNA Translation: BAF84708.1
AC027796 Genomic DNA No translation available.
AC132942 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90495.1
CH471108 Genomic DNA Translation: EAW90494.1
CH471108 Genomic DNA Translation: EAW90496.1
BC032850 mRNA Translation: AAH32850.1
AH008011 Genomic DNA Translation: AAD45630.1
CCDSiCCDS11031.1 [O60931-1]
CCDS32530.1 [O60931-2]
RefSeqiNP_001026851.2, NM_001031681.2 [O60931-2]
NP_004928.2, NM_004937.2 [O60931-1]
UniGeneiHs.187667

3D structure databases

ProteinModelPortaliO60931
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107878, 1 interactor
IntActiO60931, 1 interactor
STRINGi9606.ENSP00000371294

Chemistry databases

DrugBankiDB00138 L-Cystine

Protein family/group databases

TCDBi2.A.43.1.1 the lysosomal cystine transporter (lct) family

PTM databases

iPTMnetiO60931
PhosphoSitePlusiO60931

Polymorphism and mutation databases

BioMutaiCTNS

Proteomic databases

PaxDbiO60931
PeptideAtlasiO60931
PRIDEiO60931
ProteomicsDBi49676
49677 [O60931-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1497
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000046640; ENSP00000046640; ENSG00000040531 [O60931-1]
ENST00000381870; ENSP00000371294; ENSG00000040531 [O60931-2]
GeneIDi1497
KEGGihsa:1497
UCSCiuc002fwa.4 human [O60931-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1497
DisGeNETi1497
EuPathDBiHostDB:ENSG00000040531.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CTNS
GeneReviewsiCTNS
HGNCiHGNC:2518 CTNS
HPAiHPA046947
MalaCardsiCTNS
MIMi219750 phenotype
219800 phenotype
219900 phenotype
606272 gene
neXtProtiNX_O60931
OpenTargetsiENSG00000040531
Orphaneti411634 Juvenile nephropathic cystinosis
411629 Nephropathic infantile cystinosis
411641 Ocular cystinosis
PharmGKBiPA27019

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3145 Eukaryota
ENOG410XQSD LUCA
GeneTreeiENSGT00390000005338
HOGENOMiHOG000192503
HOVERGENiHBG003083
InParanoidiO60931
KOiK12386
OMAiHSNQTGP
OrthoDBi906547at2759
PhylomeDBiO60931
TreeFamiTF313589

Enzyme and pathway databases

ReactomeiR-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides
R-HSA-5223345 Miscellaneous transport and binding events

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CTNS human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CTNS_(gene)

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

More...
GenomeRNAii
1497

Protein Ontology

More...
PROi
PR:O60931

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000040531 Expressed in 192 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_CTNS
ExpressionAtlasiO60931 baseline and differential
GenevisibleiO60931 HS

Family and domain databases

InterProiView protein in InterPro
IPR005282 LC_transporter
IPR006603 PQ-loop_rpt
PANTHERiPTHR13131 PTHR13131, 1 hit
PfamiView protein in Pfam
PF04193 PQ-loop, 2 hits
SMARTiView protein in SMART
SM00679 CTNS, 2 hits
TIGRFAMsiTIGR00951 2A43, 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 nameiCTNS_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: O60931
Secondary accession number(s): D3DTJ5, Q8IZ01, Q9UNK6
<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: February 21, 2001
Last sequence update: November 24, 2009
Last modified: January 16, 2019
This is version 154 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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