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Entry version 169 (02 Jun 2021)
Sequence version 2 (24 Nov 2009)
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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 that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes (PubMed:11689434, PubMed:18337546, PubMed:22232659, PubMed:29467429, PubMed:33208952, PubMed:15128704).

Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis (PubMed:22649030).

In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, via interactions with components of the v-ATPase and Ragulator complexes (By similarity).

Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity (By similarity).

By similarity7 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=75 µM for cystine (at pH 5.0)1 Publication
  2. KM=278 µM for cystine1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei305H(+); protonated following cystine-binding1 Publication1

    <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

    <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, Protein transport, Symport, Transport

    Enzyme and pathway databases

    Pathway Commons web resource for biological pathway data

    More...
    PathwayCommonsi
    O60931

    Reactome - a knowledgebase of biological pathways and processes

    More...
    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%5Fand%5Ftaxonomy%5Fsection">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:
    Cystinosin1 Publication
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CTNS1 PublicationImported
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:2518, CTNS

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    606272, gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_O60931

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...
    VEuPathDBi
    HostDB:ENSG00000040531.14

    <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

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 domaini23 – 121LumenalSequence analysisAdd BLAST99
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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)12 Publications
    The disease is caused by variants 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.
    Related information in OMIM
    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; does not affect cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs121908129EnsemblClinVar.1
    Natural variantiVAR_010677133I → F in CTNS; does not affect cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs886040970EnsemblClinVar.1
    Natural variantiVAR_010678139S → F in CTNS; atypical; abolished cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs267606754EnsemblClinVar.1
    Natural variantiVAR_084186141S → F in CTNS; abolished cystine transport. 1 Publication1
    Natural variantiVAR_067490151R → G in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1555563010EnsemblClinVar.1
    Natural variantiVAR_067491157G → D in CTNS. 1 Publication1
    Natural variantiVAR_010680158L → P in CTNS; abolished cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs113994206EnsemblClinVar.1
    Natural variantiVAR_010286169G → D in CTNS; abolished cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs121908126EnsemblClinVar.1
    Natural variantiVAR_067492173Y → C in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1555563446EnsemblClinVar.1
    Natural variantiVAR_067493177N → S in CTNS; abolished cystine transport. 2 Publications1
    Natural variantiVAR_010681182W → R in CTNS; does not affect cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs764168489EnsemblClinVar.1
    Natural variantiVAR_010683205D → N in CTNS; abolished cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs113994208EnsemblClinVar.1
    Natural variantiVAR_010684205Missing in CTNS; abolished cystine transport. 3 Publications1
    Natural variantiVAR_037321222Q → R in CTNS; partial relocation to the cell membrane; abolished cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs1327959008Ensembl.1
    Natural variantiVAR_010689270Missing in CTNS; abolished cystine transport. 2 Publications1
    Natural variantiVAR_067494287M → I in CTNS. 1 PublicationCorresponds to variant dbSNP:rs922106812Ensembl.1
    Natural variantiVAR_037322288N → K in CTNS; abolished cystine transport. 2 Publications1
    Natural variantiVAR_012315298S → N in CTNS; does not affect cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs1212133760Ensembl.1
    Natural variantiVAR_010690305D → G in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1263951539EnsemblClinVar.1
    Natural variantiVAR_010691305D → Y in CTNS; abolished cystine transport. 2 Publications1
    Natural variantiVAR_010692308G → R in CTNS; abolished cystine transport. 6 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; abolished cystine transport. 2 Publications1
    Natural variantiVAR_067498338L → R in CTNS. 1 Publication1
    Natural variantiVAR_010695339G → R in CTNS; abolished cystine transport. 5 PublicationsCorresponds to variant dbSNP:rs121908127EnsemblClinVar.1
    Natural variantiVAR_010697343 – 346Missing in CTNS; partial relocation to the cell membrane; abolished cystine transport. 2 Publications4
    Natural variantiVAR_037323346 – 349Missing in CTNS; partial relocation to the cell membrane; abolished cystine transport. 2 Publications4
    Natural variantiVAR_010698346D → N in CTNS; atypical; slightly decreased cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs757535731Ensembl.1
    Natural variantiVAR_037324349F → FDVEF in CTNS; abolished cystine transport. 2 Publications1
    Cystinosis, adult, non-nephropathic type (CTNSANN)2 Publications
    The disease is caused by variants 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.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_010682197G → R in CTNSANN; decreased cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs113994207EnsemblClinVar.1
    Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN)6 Publications
    The disease is caused by variants 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.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_01067467 – 73Missing in CTNSJAN; protein misfolding leading to decreased stability; decreased cystine transport. 3 Publications7
    Natural variantiVAR_010679154S → SPCS in CTNSJAN; decreased cystine transport. 2 Publications1
    Natural variantiVAR_037319177N → T in CTNSJAN. 1 Publication1
    Natural variantiVAR_037320200P → L in CTNSJAN; decreased cystine transport. 2 Publications1
    Natural variantiVAR_010287280K → R in CTNSJAN; abolished cystine transport. 2 Publications1
    Natural variantiVAR_010288323N → K in CTNSJAN; abolished cystine transport. 3 PublicationsCorresponds to variant dbSNP:rs121908128EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi66N → A: Decreased glycosylation. 1 Publication1
    Mutagenesisi131G → S or D: Gain-of-function mutant that shows higher transport of cystine. 1 Publication1
    Mutagenesisi137A → V: Gain-of-function mutant that shows higher transport of cystine. 1 Publication1
    Mutagenesisi143Y → F: Slightly decreased midpoint potential. Impaired dielectric distance. 1 Publication1
    Mutagenesisi152R → Q: Impaired dielectric distance. 1 Publication1
    Mutagenesisi161D → N: Strongly reduced steady-state transport current. Slightly decreased midpoint potential. 1 Publication1
    Mutagenesisi205D → N: Abolished steady-state transport current. Decreased midpoint potential. 1 Publication1
    Mutagenesisi211H → F: Accelerated the time course. 1 Publication1
    Mutagenesisi270S → T: Gain-of-function mutant that shows higher transport of cystine. 1 Publication1
    Mutagenesisi274L → F: Gain-of-function mutant that shows higher transport of cystine. 1 Publication1
    Mutagenesisi280 – 288Missing in delta(A) mutant; abolished localization to the lysosome; when associated with deletion of 362-G--L-366. 1 Publication9
    Mutagenesisi281 – 284YFPQ → AAAA in mu(a) mutant; abolished localization to the lysosome; when associated with deletion of 362-G--L-366. 1 Publication4
    Mutagenesisi281Y → F: Decreased midpoint potential. Accelerated the time course. 1 Publication1
    Mutagenesisi286 – 289YMNF → AAAA in mu(b) mutant; does not abolish localization to the lysosome; when associated with deletion of 362-G--L-366. 1 Publication4
    Mutagenesisi289 – 298Missing in delta(B) mutant; does not abolish localization to the lysosome; when associated with deletion of 362-G--L-366. 1 Publication10
    Mutagenesisi305D → E: Abolished steady-state transport current. 1 Publication1
    Mutagenesisi305D → N: Abolished transient cxurrents. Abolished steady-state transport current. 1 Publication1
    Mutagenesisi309G → C or S: Gain-of-function mutant that shows higher transport of cystine. 1 Publication1
    Mutagenesisi312S → N: Gain-of-function mutant that shows higher transport of cystine. 1 Publication1
    Mutagenesisi335K → Q: Abolished steady-state transport current. Decreased midpoint potential. Impaired dielectric distance. Accelerated the time course. 1 Publication1
    Mutagenesisi362 – 366Missing : Strongly reduced but not abolished localization to the lysosome, leading to partial relocation to the cell membrane. Abolished localization to the lysosome; when associated with 281-A--A-284 or deletion of 280-K--N-288. Does not abolish localization to the lysosome; when associated with 286-A--A-289 or deletion of 289-F--S-298. 2 Publications5
    Mutagenesisi362G → A: Does not affect localization to the lysosome. 1 Publication1
    Mutagenesisi363Y → A: Strongly reduced but not abolished localization to the lysosome, leading to partial relocation to the cell membrane. 2 Publications1
    Mutagenesisi364D → A: Does not affect localization to the lysosome. 1 Publication1
    Mutagenesisi365Q → A: Does not affect localization to the lysosome. 1 Publication1
    Mutagenesisi366L → A: Strongly reduced but not abolished localization to the lysosome, leading to partial relocation to the cell membrane. 2 Publications1
    Isoform 2 (identifier: O60931-2)
    Mutagenesisi396 – 400Missing : Abolished localization to the cell membrane. Does not affect cystine transport. 1 Publication5

    Keywords - Diseasei

    Disease variant

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    1497

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

    More...
    GeneReviewsi
    CTNS

    MalaCards human disease database

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

    Open Targets

    More...
    OpenTargetsi
    ENSG00000040531

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

    More...
    Orphaneti
    411629, Infantile nephropathic cystinosis
    411634, Juvenile nephropathic cystinosis
    411641, Ocular cystinosis

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA27019

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    O60931, Tbio

    Chemistry databases

    Drug and drug target database

    More...
    DrugBanki
    DB00138, Cystine

    Genetic variation 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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 221 PublicationAdd BLAST22
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000020551423 – 367CystinosinAdd BLAST345

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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...) (high mannose) asparagineSequence analysis1 Publication1
    Glycosylationi41N-linked (GlcNAc...) (high mannose) asparagineSequence analysis1 Publication1
    Glycosylationi51N-linked (GlcNAc...) (high mannose) asparagineSequence analysis1 Publication1
    Glycosylationi66N-linked (GlcNAc...) asparagineSequence analysis1 Publication1
    Glycosylationi84N-linked (GlcNAc...) (high mannose) asparagineSequence analysis1 Publication1
    Glycosylationi104N-linked (GlcNAc...) (high mannose) asparagineSequence analysis1 Publication1
    Glycosylationi107N-linked (GlcNAc...) (high mannose) asparagineSequence analysis1 Publication1

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    O60931

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    O60931

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

    More...
    PaxDbi
    O60931

    PeptideAtlas

    More...
    PeptideAtlasi
    O60931

    PRoteomics IDEntifications database

    More...
    PRIDEi
    O60931

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    49676 [O60931-1]
    49677 [O60931-2]

    PTM databases

    GlyGen: Computational and Informatics Resources for Glycoscience

    More...
    GlyGeni
    O60931, 7 sites

    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.

    More...
    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 (PubMed:22649030). Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal) (PubMed:22649030).1 Publication
    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

    More...
    Bgeei
    ENSG00000040531, Expressed in adult mammalian kidney and 207 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    O60931, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    O60931, HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000040531, Low tissue specificity

    <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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Interacts with components of the V-ATPase complex.

    Interacts with components of the Ragulator complex.

    Interacts with RRAGA/RagA and RRAGC/RagC (By similarity).

    Interacts with AP-3 complex subunit mu (AP3M1 or AP3M2) (PubMed:25753619).

    By similarity1 Publication

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...
    BioGRIDi
    107878, 2 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    O60931, 1 interactor

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000371294

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    O60931, protein

    <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

    <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%5Fand%5Fdomains%5Fsection">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 1Sequence analysisAdd BLAST67
    Domaini263 – 328PQ-loop 2Sequence analysisAdd 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 analysis1 Publication5

    <p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

    The lysosomal targeting motif, together with the second PQ-loop mediate targeting to the lysosome.1 Publication

    <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, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG3145, Eukaryota

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000005338

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_046327_1_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    O60931

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    VLGFVCY

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    O60931

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF313589

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR005282, LC_transporter
    IPR006603, PQ-loop_rpt

    The PANTHER Classification System

    More...
    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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

    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 8 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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-LKG1 Publication

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

    Annotation score:2 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
    253Annotation 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>
    A0A669KB82A0A669KB82_HUMAN
    Cystinosin
    CTNS
    220Annotation 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>
    A0A669KAZ5A0A669KAZ5_HUMAN
    Cystinosin
    CTNS
    116Annotation 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>
    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>
    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>

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_01028542V → I Does not affect cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs35086888EnsemblClinVar.1
    Natural variantiVAR_01067467 – 73Missing in CTNSJAN; protein misfolding leading to decreased stability; decreased cystine transport. 3 Publications7
    Natural variantiVAR_037318110G → V in CTNS; atypical; does not affect cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs121908129EnsemblClinVar.1
    Natural variantiVAR_010677133I → F in CTNS; does not affect cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs886040970EnsemblClinVar.1
    Natural variantiVAR_010678139S → F in CTNS; atypical; abolished cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs267606754EnsemblClinVar.1
    Natural variantiVAR_084186141S → F in CTNS; abolished cystine transport. 1 Publication1
    Natural variantiVAR_067490151R → G in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1555563010EnsemblClinVar.1
    Natural variantiVAR_010679154S → SPCS in CTNSJAN; decreased cystine transport. 2 Publications1
    Natural variantiVAR_067491157G → D in CTNS. 1 Publication1
    Natural variantiVAR_010680158L → P in CTNS; abolished cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs113994206EnsemblClinVar.1
    Natural variantiVAR_010286169G → D in CTNS; abolished cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs121908126EnsemblClinVar.1
    Natural variantiVAR_067492173Y → C in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1555563446EnsemblClinVar.1
    Natural variantiVAR_067493177N → S in CTNS; abolished cystine transport. 2 Publications1
    Natural variantiVAR_037319177N → T in CTNSJAN. 1 Publication1
    Natural variantiVAR_010681182W → R in CTNS; does not affect cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs764168489EnsemblClinVar.1
    Natural variantiVAR_010682197G → R in CTNSANN; decreased cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs113994207EnsemblClinVar.1
    Natural variantiVAR_037320200P → L in CTNSJAN; decreased cystine transport. 2 Publications1
    Natural variantiVAR_010683205D → N in CTNS; abolished cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs113994208EnsemblClinVar.1
    Natural variantiVAR_010684205Missing in CTNS; abolished cystine transport. 3 Publications1
    Natural variantiVAR_037321222Q → R in CTNS; partial relocation to the cell membrane; abolished cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs1327959008Ensembl.1
    Natural variantiVAR_060371260T → I Slightly decreased cystine transport. 8 PublicationsCorresponds to variant dbSNP:rs161400EnsemblClinVar.1
    Natural variantiVAR_010689270Missing in CTNS; abolished cystine transport. 2 Publications1
    Natural variantiVAR_010287280K → R in CTNSJAN; abolished cystine transport. 2 Publications1
    Natural variantiVAR_067494287M → I in CTNS. 1 PublicationCorresponds to variant dbSNP:rs922106812Ensembl.1
    Natural variantiVAR_037322288N → K in CTNS; abolished cystine transport. 2 Publications1
    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; does not affect cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs1212133760Ensembl.1
    Natural variantiVAR_010690305D → G in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1263951539EnsemblClinVar.1
    Natural variantiVAR_010691305D → Y in CTNS; abolished cystine transport. 2 Publications1
    Natural variantiVAR_010692308G → R in CTNS; abolished cystine transport. 6 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; abolished cystine transport. 3 PublicationsCorresponds to variant dbSNP:rs121908128EnsemblClinVar.1
    Natural variantiVAR_067497337G → R in CTNS. 1 Publication1
    Natural variantiVAR_010694338L → P in CTNS; abolished cystine transport. 2 Publications1
    Natural variantiVAR_067498338L → R in CTNS. 1 Publication1
    Natural variantiVAR_010695339G → R in CTNS; abolished cystine transport. 5 PublicationsCorresponds to variant dbSNP:rs121908127EnsemblClinVar.1
    Natural variantiVAR_010697343 – 346Missing in CTNS; partial relocation to the cell membrane; abolished cystine transport. 2 Publications4
    Natural variantiVAR_037323346 – 349Missing in CTNS; partial relocation to the cell membrane; abolished cystine transport. 2 Publications4
    Natural variantiVAR_010698346D → N in CTNS; atypical; slightly decreased cystine transport. 2 PublicationsCorresponds to variant dbSNP:rs757535731Ensembl.1
    Natural variantiVAR_037324349F → FDVEF in CTNS; abolished cystine transport. 2 Publications1

    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.<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 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]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000046640; ENSP00000046640; ENSG00000040531 [O60931-1]
    ENST00000381870; ENSP00000371294; ENSG00000040531 [O60931-2]
    ENST00000673965; ENSP00000500995; ENSG00000040531 [O60931-1]

    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

    <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 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]

    3D structure databases

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    SWISS-MODEL Interactive Workspace

    More...
    SWISS-MODEL-Workspacei
    Submit a new modelling project...

    Protein-protein interaction databases

    BioGRIDi107878, 2 interactors
    IntActiO60931, 1 interactor
    STRINGi9606.ENSP00000371294

    Chemistry databases

    DrugBankiDB00138, Cystine

    Protein family/group databases

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

    PTM databases

    GlyGeniO60931, 7 sites
    iPTMnetiO60931
    PhosphoSitePlusiO60931

    Genetic variation databases

    BioMutaiCTNS

    Proteomic databases

    jPOSTiO60931
    MassIVEiO60931
    PaxDbiO60931
    PeptideAtlasiO60931
    PRIDEiO60931
    ProteomicsDBi49676 [O60931-1]
    49677 [O60931-2]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    23081, 193 antibodies

    The DNASU plasmid repository

    More...
    DNASUi
    1497

    Genome annotation databases

    EnsembliENST00000046640; ENSP00000046640; ENSG00000040531 [O60931-1]
    ENST00000381870; ENSP00000371294; ENSG00000040531 [O60931-2]
    ENST00000673965; ENSP00000500995; ENSG00000040531 [O60931-1]
    GeneIDi1497
    KEGGihsa:1497
    UCSCiuc002fwa.4, human [O60931-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    1497
    DisGeNETi1497

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    CTNS
    GeneReviewsiCTNS
    HGNCiHGNC:2518, CTNS
    HPAiENSG00000040531, Low tissue specificity
    MalaCardsiCTNS
    MIMi219750, phenotype
    219800, phenotype
    219900, phenotype
    606272, gene
    neXtProtiNX_O60931
    OpenTargetsiENSG00000040531
    Orphaneti411629, Infantile nephropathic cystinosis
    411634, Juvenile nephropathic cystinosis
    411641, Ocular cystinosis
    PharmGKBiPA27019
    VEuPathDBiHostDB:ENSG00000040531.14

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG3145, Eukaryota
    GeneTreeiENSGT00390000005338
    HOGENOMiCLU_046327_1_0_1
    InParanoidiO60931
    OMAiVLGFVCY
    PhylomeDBiO60931
    TreeFamiTF313589

    Enzyme and pathway databases

    PathwayCommonsiO60931
    ReactomeiR-HSA-425393, Transport of inorganic cations/anions and amino acids/oligopeptides
    R-HSA-5223345, Miscellaneous transport and binding events

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    1497, 11 hits in 990 CRISPR screens

    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
    PharosiO60931, Tbio

    Protein Ontology

    More...
    PROi
    PR:O60931
    RNActiO60931, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000040531, Expressed in adult mammalian kidney and 207 other tissues
    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

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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%5Fand%5Fisoforms">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: June 2, 2021
    This is version 169 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

    Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with genetic variants
      List of human entries with genetic variants
    3. Human variants curated from literature reports
      Index of human variants curated from literature reports
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families
    UniProt is an ELIXIR core data resource
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