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O60931

- CTNS_HUMAN

UniProt

O60931 - CTNS_HUMAN

Protein

Cystinosin

Gene

CTNS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 2 (24 Nov 2009)
      Previous versions | rss
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    Functioni

    Thought to transport cystine out of lysosomes.

    GO - Molecular functioni

    1. L-cystine transmembrane transporter activity Source: UniProtKB

    GO - Biological processi

    1. adult walking behavior Source: Ensembl
    2. ATP metabolic process Source: UniProtKB
    3. brain development Source: UniProtKB
    4. cellular amino acid metabolic process Source: UniProtKB
    5. cognition Source: UniProtKB
    6. compound eye corneal lens development Source: Ensembl
    7. glutathione metabolic process Source: UniProtKB
    8. grooming behavior Source: Ensembl
    9. L-cystine transport Source: MGI
    10. long-term memory Source: Ensembl
    11. visual learning Source: Ensembl

    Keywords - Biological processi

    Transport

    Protein family/group databases

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cystinosin
    Gene namesi
    Name:CTNS
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:2518. CTNS.

    Subcellular locationi

    Lysosome membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: UniProtKB-KW
    3. intermediate filament cytoskeleton Source: HPA
    4. intracellular membrane-bounded organelle Source: HPA
    5. late endosome Source: UniProtKB
    6. lysosomal membrane Source: UniProtKB
    7. lysosome Source: MGI
    8. plasma membrane Source: MGI

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Cystinosis, nephropathic type (CTNS) [MIM:219800]: A 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.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti67 – 737Missing in CTNSJAN. 1 Publication
    VAR_010674
    Natural varianti110 – 1101G → V in CTNS; atypical. 1 Publication
    VAR_037318
    Natural varianti133 – 1331I → F in CTNS. 1 Publication
    VAR_010677
    Natural varianti139 – 1391S → F in CTNS; atypical. 1 Publication
    VAR_010678
    Natural varianti151 – 1511R → G in CTNS. 1 Publication
    VAR_067490
    Natural varianti154 – 1541S → SPCS in CTNSJAN.
    VAR_010679
    Natural varianti157 – 1571G → D in CTNS. 1 Publication
    VAR_067491
    Natural varianti158 – 1581L → P in CTNS. 1 Publication
    VAR_010680
    Natural varianti169 – 1691G → D in CTNS. 1 Publication
    VAR_010286
    Natural varianti173 – 1731Y → C in CTNS. 1 Publication
    VAR_067492
    Natural varianti177 – 1771N → S in CTNS. 1 Publication
    VAR_067493
    Natural varianti177 – 1771N → T in CTNSJAN. 1 Publication
    VAR_037319
    Natural varianti182 – 1821W → R in CTNS. 1 Publication
    VAR_010681
    Natural varianti197 – 1971G → R in CTNSANN.
    VAR_010682
    Natural varianti200 – 2001P → L in CTNSJAN. 1 Publication
    VAR_037320
    Natural varianti205 – 2051D → N in CTNS. 1 Publication
    VAR_010683
    Natural varianti205 – 2051Missing in CTNS. 1 Publication
    VAR_010684
    Natural varianti222 – 2221Q → R in CTNS. 1 Publication
    VAR_037321
    Natural varianti270 – 2701Missing in CTNS. 1 Publication
    VAR_010689
    Natural varianti280 – 2801K → R in CTNSJAN. 1 Publication
    VAR_010287
    Natural varianti287 – 2871M → I in CTNS. 1 Publication
    VAR_067494
    Natural varianti288 – 2881N → K in CTNS. 1 Publication
    VAR_037322
    Natural varianti298 – 2981S → N in CTNS. 1 Publication
    VAR_012315
    Natural varianti305 – 3051D → G in CTNS. 1 Publication
    VAR_010690
    Natural varianti305 – 3051D → Y in CTNS. 1 Publication
    VAR_010691
    Natural varianti308 – 3081G → R in CTNS. 3 Publications
    VAR_010692
    Natural varianti308 – 3081G → V in CTNS. 1 Publication
    VAR_067495
    Natural varianti309 – 3091G → D in CTNS. 1 Publication
    VAR_067496
    Natural varianti323 – 3231N → K in CTNSJAN. 2 Publications
    VAR_010288
    Natural varianti337 – 3371G → R in CTNS. 1 Publication
    VAR_067497
    Natural varianti338 – 3381L → P in CTNS. 1 Publication
    VAR_010694
    Natural varianti338 – 3381L → R in CTNS. 1 Publication
    VAR_067498
    Natural varianti339 – 3391G → R in CTNS. 4 Publications
    VAR_010695
    Natural varianti343 – 3464Missing in CTNS.
    VAR_010697
    Natural varianti346 – 3494Missing in CTNS.
    VAR_037323
    Natural varianti346 – 3461D → N in CTNS; atypical. 1 Publication
    VAR_010698
    Natural varianti349 – 3491F → FDVEF in CTNS.
    VAR_037324
    Cystinosis, adult, non-nephropathic type (CTNSANN) [MIM:219750]: A 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.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti197 – 1971G → R in CTNSANN.
    VAR_010682
    Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]: A 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti67 – 737Missing in CTNSJAN. 1 Publication
    VAR_010674
    Natural varianti154 – 1541S → SPCS in CTNSJAN.
    VAR_010679
    Natural varianti177 – 1771N → T in CTNSJAN. 1 Publication
    VAR_037319
    Natural varianti200 – 2001P → L in CTNSJAN. 1 Publication
    VAR_037320
    Natural varianti280 – 2801K → R in CTNSJAN. 1 Publication
    VAR_010287
    Natural varianti323 – 3231N → K in CTNSJAN. 2 Publications
    VAR_010288

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi219750. phenotype.
    219800. phenotype.
    219900. phenotype.
    Orphaneti213. Cystinosis.
    PharmGKBiPA27019.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 367367CystinosinPRO_0000205514Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi36 – 361N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi41 – 411N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi51 – 511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi66 – 661N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi84 – 841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi104 – 1041N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi107 – 1071N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiO60931.
    PRIDEiO60931.

    Expressioni

    Tissue specificityi

    Strongly expressed in pancreas, kidney (adult and fetal) and in skeletal muscle. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal).

    Gene expression databases

    ArrayExpressiO60931.
    BgeeiO60931.
    CleanExiHS_CTNS.
    GenevestigatoriO60931.

    Organism-specific databases

    HPAiHPA046947.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000371294.

    Structurei

    3D structure databases

    ProteinModelPortaliO60931.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 121121LumenalSequence AnalysisAdd
    BLAST
    Topological domaini143 – 16119CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini183 – 20523LumenalSequence AnalysisAdd
    BLAST
    Topological domaini227 – 23711CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini259 – 2613LumenalSequence Analysis
    Topological domaini283 – 29715CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini319 – 33517LumenalSequence AnalysisAdd
    BLAST
    Topological domaini357 – 36711CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei122 – 14221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei162 – 18221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei206 – 22621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei238 – 25821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei262 – 28221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei298 – 31821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei336 – 35621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini123 – 18967PQ-loop 1Add
    BLAST
    Domaini263 – 32866PQ-loop 2Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi362 – 3665Lysosomal targeting motifSequence Analysis

    Sequence similaritiesi

    Belongs to the cystinosin family.Curated
    Contains 2 PQ-loop domains.Curated

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG266153.
    HOGENOMiHOG000192503.
    HOVERGENiHBG003083.
    KOiK12386.
    OMAiFQVTSQN.
    OrthoDBiEOG7T1RBM.
    PhylomeDBiO60931.
    TreeFamiTF313589.

    Family and domain databases

    InterProiIPR005282. LC_transporter.
    IPR006603. PQ-loop_rpt.
    [Graphical view]
    PANTHERiPTHR13131. PTHR13131. 1 hit.
    PfamiPF04193. PQ-loop. 2 hits.
    [Graphical view]
    SMARTiSM00679. CTNS. 2 hits.
    [Graphical view]
    TIGRFAMsiTIGR00951. 2A43. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRPPL    50
    NATLVITFEI TFRSKNITIL ELPDEVVVPP GVTNSSFQVT SQNVGQLTVY 100
    LHGNHSNQTG PRIRFLVIRS SAISIINQVI GWIYFVAWSI SFYPQVIMNW 150
    RRKSVIGLSF DFVALNLTGF VAYSVFNIGL LWVPYIKEQF LLKYPNGVNP 200
    VNSNDVFFSL HAVVLTLIII VQCCLYERGG QRVSWPAIGF LVLAWLFAFV 250
    TMIVAAVGVT TWLQFLFCFS YIKLAVTLVK YFPQAYMNFY YKSTEGWSIG 300
    NVLLDFTGGS FSLLQMFLQS YNNDQWTLIF GDPTKFGLGV FSIVFDVVFF 350
    IQHFCLYRKR PGYDQLN 367
    Length:367
    Mass (Da):41,738
    Last modified:November 24, 2009 - v2
    Checksum:i9343889CD7576908
    GO
    Isoform 2 (identifier: O60931-2) [UniParc]FASTAAdd to Basket

    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

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 421V → I.1 Publication
    Corresponds to variant rs35086888 [ dbSNP | Ensembl ].
    VAR_010285
    Natural varianti67 – 737Missing in CTNSJAN. 1 Publication
    VAR_010674
    Natural varianti110 – 1101G → V in CTNS; atypical. 1 Publication
    VAR_037318
    Natural varianti133 – 1331I → F in CTNS. 1 Publication
    VAR_010677
    Natural varianti139 – 1391S → F in CTNS; atypical. 1 Publication
    VAR_010678
    Natural varianti151 – 1511R → G in CTNS. 1 Publication
    VAR_067490
    Natural varianti154 – 1541S → SPCS in CTNSJAN.
    VAR_010679
    Natural varianti157 – 1571G → D in CTNS. 1 Publication
    VAR_067491
    Natural varianti158 – 1581L → P in CTNS. 1 Publication
    VAR_010680
    Natural varianti169 – 1691G → D in CTNS. 1 Publication
    VAR_010286
    Natural varianti173 – 1731Y → C in CTNS. 1 Publication
    VAR_067492
    Natural varianti177 – 1771N → S in CTNS. 1 Publication
    VAR_067493
    Natural varianti177 – 1771N → T in CTNSJAN. 1 Publication
    VAR_037319
    Natural varianti182 – 1821W → R in CTNS. 1 Publication
    VAR_010681
    Natural varianti197 – 1971G → R in CTNSANN.
    VAR_010682
    Natural varianti200 – 2001P → L in CTNSJAN. 1 Publication
    VAR_037320
    Natural varianti205 – 2051D → N in CTNS. 1 Publication
    VAR_010683
    Natural varianti205 – 2051Missing in CTNS. 1 Publication
    VAR_010684
    Natural varianti222 – 2221Q → R in CTNS. 1 Publication
    VAR_037321
    Natural varianti260 – 2601T → I.7 Publications
    Corresponds to variant rs161400 [ dbSNP | Ensembl ].
    VAR_060371
    Natural varianti270 – 2701Missing in CTNS. 1 Publication
    VAR_010689
    Natural varianti280 – 2801K → R in CTNSJAN. 1 Publication
    VAR_010287
    Natural varianti287 – 2871M → I in CTNS. 1 Publication
    VAR_067494
    Natural varianti288 – 2881N → K in CTNS. 1 Publication
    VAR_037322
    Natural varianti292 – 2921K → R Found in patients with cystinosis; uncertain pathological significance. 1 Publication
    Corresponds to variant rs1800527 [ dbSNP | Ensembl ].
    VAR_012314
    Natural varianti298 – 2981S → N in CTNS. 1 Publication
    VAR_012315
    Natural varianti305 – 3051D → G in CTNS. 1 Publication
    VAR_010690
    Natural varianti305 – 3051D → Y in CTNS. 1 Publication
    VAR_010691
    Natural varianti308 – 3081G → R in CTNS. 3 Publications
    VAR_010692
    Natural varianti308 – 3081G → V in CTNS. 1 Publication
    VAR_067495
    Natural varianti309 – 3091G → D in CTNS. 1 Publication
    VAR_067496
    Natural varianti323 – 3231N → K in CTNSJAN. 2 Publications
    VAR_010288
    Natural varianti337 – 3371G → R in CTNS. 1 Publication
    VAR_067497
    Natural varianti338 – 3381L → P in CTNS. 1 Publication
    VAR_010694
    Natural varianti338 – 3381L → R in CTNS. 1 Publication
    VAR_067498
    Natural varianti339 – 3391G → R in CTNS. 4 Publications
    VAR_010695
    Natural varianti343 – 3464Missing in CTNS.
    VAR_010697
    Natural varianti346 – 3494Missing in CTNS.
    VAR_037323
    Natural varianti346 – 3461D → N in CTNS; atypical. 1 Publication
    VAR_010698
    Natural varianti349 – 3491F → FDVEF in CTNS.
    VAR_037324

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei363 – 3675YDQLN → LQAARTGSGSRLRQDWAPSL QPKALPQTTSVSASSLKG in isoform 2. 2 PublicationsVSP_038377

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    XP_005256542.1. XM_005256485.1. [O60931-2]
    XP_006721526.1. XM_006721463.1. [O60931-2]
    UniGeneiHs.187667.

    Genome annotation databases

    EnsembliENST00000046640; ENSP00000046640; ENSG00000040531. [O60931-1]
    ENST00000381870; ENSP00000371294; ENSG00000040531. [O60931-2]
    GeneIDi1497.
    KEGGihsa:1497.
    UCSCiuc002fwa.3. human. [O60931-2]
    uc002fwb.3. human. [O60931-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS11031.1. [O60931-1 ]
    CCDS32530.1. [O60931-2 ]
    RefSeqi NP_001026851.2. NM_001031681.2. [O60931-2 ]
    NP_004928.2. NM_004937.2. [O60931-1 ]
    XP_005256542.1. XM_005256485.1. [O60931-2 ]
    XP_006721526.1. XM_006721463.1. [O60931-2 ]
    UniGenei Hs.187667.

    3D structure databases

    ProteinModelPortali O60931.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000371294.

    Chemistry

    DrugBanki DB00138. L-Cystine.

    Protein family/group databases

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

    Proteomic databases

    PaxDbi O60931.
    PRIDEi O60931.

    Protocols and materials databases

    DNASUi 1497.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000046640 ; ENSP00000046640 ; ENSG00000040531 . [O60931-1 ]
    ENST00000381870 ; ENSP00000371294 ; ENSG00000040531 . [O60931-2 ]
    GeneIDi 1497.
    KEGGi hsa:1497.
    UCSCi uc002fwa.3. human. [O60931-2 ]
    uc002fwb.3. human. [O60931-1 ]

    Organism-specific databases

    CTDi 1497.
    GeneCardsi GC17P003486.
    GeneReviewsi CTNS.
    HGNCi HGNC:2518. CTNS.
    HPAi HPA046947.
    MIMi 219750. phenotype.
    219800. phenotype.
    219900. phenotype.
    606272. gene.
    neXtProti NX_O60931.
    Orphaneti 213. Cystinosis.
    PharmGKBi PA27019.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG266153.
    HOGENOMi HOG000192503.
    HOVERGENi HBG003083.
    KOi K12386.
    OMAi FQVTSQN.
    OrthoDBi EOG7T1RBM.
    PhylomeDBi O60931.
    TreeFami TF313589.

    Miscellaneous databases

    ChiTaRSi CTNS. human.
    GeneWikii CTNS_(gene).
    GenomeRNAii 1497.
    NextBioi 6153.
    PROi O60931.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60931.
    Bgeei O60931.
    CleanExi HS_CTNS.
    Genevestigatori O60931.

    Family and domain databases

    InterProi IPR005282. LC_transporter.
    IPR006603. PQ-loop_rpt.
    [Graphical view ]
    PANTHERi PTHR13131. PTHR13131. 1 hit.
    Pfami PF04193. PQ-loop. 2 hits.
    [Graphical view ]
    SMARTi SM00679. CTNS. 2 hits.
    [Graphical view ]
    TIGRFAMsi TIGR00951. 2A43. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis."
      Town M., Jean G., Cherqui S., Attard M., Forestier L., Whitmore S.A., Callen D.F., Gribouval O., Broyer M., Bates G.P., van 't Hoff W., Antignac C.
      Nat. Genet. 18:319-324(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT ILE-260.
      Tissue: Kidney.
    2. "The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion."
      Touchman J.W., Anikster Y., Dietrich N.L., Maduro V.V.B., McDowell G., Shotelersuk V., Bouffard G.G., Beckstrom-Sternberg S.M., Gahl W.A., Green E.D.
      Genome Res. 10:165-173(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-260.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ILE-260.
      Tissue: Spleen.
    4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ILE-260.
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ILE-260.
      Tissue: Testis.
    7. "Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)."
      Anikster Y., Lucero C., Touchman J.W., Huizing M., McDowell G., Shotelersuk V., Green E.D., Gahl W.A.
      Mol. Genet. Metab. 66:111-116(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 228-367, VARIANT ILE-260.
    8. "CTNS mutations in patients with cystinosis."
      Anikster Y., Shotelersuk V., Gahl W.A.
      Hum. Mutat. 14:454-458(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS CYSTINOSIS.
    9. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Placenta.
    10. Cited for: VARIANTS CTNS ASP-169; ARG-182; ASN-205; ASP-205 DEL; ASN-298; GLY-305; ARG-308 AND ARG-339, VARIANT CTNSJAN 67-ILE--PRO-73 DEL, VARIANT ARG-292.
    11. "Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation."
      McGowan-Jordan J., Stoddard K., Podolsky L., Orrbine E., McLaine P., Town M., Goodyer P., MacKenzie A., Heick H.
      Eur. J. Hum. Genet. 7:671-678(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CTNS PHE-133 AND PRO-158.
    12. Cited for: VARIANTS CTNSJAN ARG-280 AND LYS-323.
    13. "Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin."
      Attard M., Jean G., Forestier L., Cherqui S., van 't Hoff W., Broyer M., Antignac C., Town M.
      Hum. Mol. Genet. 8:2507-2514(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CTNS PHE-139; SER-270 DEL; TYR-305; ARG-308; PRO-338; ARG-339 AND ASN-346, VARIANT ILE-42.
    14. "Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis."
      Kiehntopf M., Schickel J., Gonne B., Koch H.G., Superti-Furga A., Steinmann B., Deufel T., Harms E.
      Hum. Mutat. 20:237-237(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CTNS VAL-308 AND ARG-339.
    15. "Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis."
      Kalatzis V., Cohen-Solal L., Cordier B., Frishberg Y., Kemper M., Nuutinen E.M., Legrand E., Cochat P., Antignac C.
      Hum. Mutat. 20:439-446(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CTNS VAL-110; ARG-222; LYS-288; ASP-346--349-PHE DEL AND ASP-VAL-GLU-PHE-349 INS, VARIANTS CTNSJAN THR-177 AND LEU-200.
    16. Cited for: VARIANTS CTNS ILE-287; ARG-308; ARG-337 AND ARG-339, VARIANT ILE-260.
    17. Cited for: VARIANTS CTNS SER-177 AND ARG-338.
    18. Cited for: VARIANTS CTNS ASP-309 AND LYS-323.
    19. Cited for: VARIANTS CTNS GLY-151; ASP-157 AND CYS-173.

    Entry informationi

    Entry nameiCTNS_HUMAN
    AccessioniPrimary (citable) accession number: O60931
    Secondary accession number(s): D3DTJ5, Q8IZ01, Q9UNK6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: November 24, 2009
    Last modified: October 1, 2014
    This is version 124 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3