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O60931

- CTNS_HUMAN

UniProt

O60931 - CTNS_HUMAN

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Protein

Cystinosin

Gene

CTNS

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

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

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. glutathione metabolic process Source: UniProtKB
  7. grooming behavior Source: Ensembl
  8. L-cystine transport Source: MGI
  9. lens development in camera-type eye Source: Ensembl
  10. long-term memory Source: Ensembl
  11. visual learning Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Melanin biosynthesis, 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

Isoform 1 : Lysosome membrane 1 Publication; Multi-pass membrane protein 1 Publication. Melanosome 1 Publication
Isoform 2 : Lysosome membrane 1 Publication; Multi-pass membrane protein. Cell membrane 1 Publication; Multi-pass membrane protein

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 121121LumenalSequence AnalysisAdd
BLAST
Transmembranei122 – 14221HelicalSequence AnalysisAdd
BLAST
Topological domaini143 – 16119CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei162 – 18221HelicalSequence AnalysisAdd
BLAST
Topological domaini183 – 20523LumenalSequence AnalysisAdd
BLAST
Transmembranei206 – 22621HelicalSequence AnalysisAdd
BLAST
Topological domaini227 – 23711CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei238 – 25821HelicalSequence AnalysisAdd
BLAST
Topological domaini259 – 2613LumenalSequence Analysis
Transmembranei262 – 28221HelicalSequence AnalysisAdd
BLAST
Topological domaini283 – 29715CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei298 – 31821HelicalSequence AnalysisAdd
BLAST
Topological domaini319 – 33517LumenalSequence AnalysisAdd
BLAST
Transmembranei336 – 35621HelicalSequence AnalysisAdd
BLAST
Topological domaini357 – 36711CytoplasmicSequence AnalysisAdd
BLAST

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
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, 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

MaxQBiO60931.
PaxDbiO60931.
PRIDEiO60931.

Expressioni

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

BgeeiO60931.
CleanExiHS_CTNS.
ExpressionAtlasiO60931. baseline and differential.
GenevestigatoriO60931.

Organism-specific databases

HPAiHPA046947.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000371294.

Structurei

3D structure databases

ProteinModelPortaliO60931.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00390000005338.
HOGENOMiHOG000192503.
HOVERGENiHBG003083.
InParanoidiO60931.
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

        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
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

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:
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]
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:
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 .
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

MaxQBi O60931.
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 GC17P003539.
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.
GeneTreei ENSGT00390000005338.
HOGENOMi HOG000192503.
HOVERGENi HBG003083.
InParanoidi O60931.
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

Bgeei O60931.
CleanExi HS_CTNS.
ExpressionAtlasi O60931. baseline and differential.
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

« Hide 'large scale' publications
  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: SUBCELLULAR LOCATION (ISOFORM 2), ALTERNATIVE SPLICING.
  11. Cited for: FUNCTION, SUBCELLULAR LOCATION.
  12. Cited for: TISSUE SPECIFICITY (ISOFORMS 1 AND 2).
  13. 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.
  14. "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.
  15. Cited for: VARIANTS CTNSJAN ARG-280 AND LYS-323.
  16. "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.
  17. "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.
  18. "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.
  19. Cited for: VARIANTS CTNS ILE-287; ARG-308; ARG-337 AND ARG-339, VARIANT ILE-260.
  20. Cited for: VARIANTS CTNS SER-177 AND ARG-338.
  21. Cited for: VARIANTS CTNS ASP-309 AND LYS-323.
  22. 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 29, 2014
This is version 125 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