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O60931 (CTNS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cystinosin
Gene names
Name:CTNS
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length367 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Thought to transport cystine out of lysosomes.

Subcellular location

Lysosome membrane; Multi-pass membrane protein Ref.9.

Tissue specificity

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).

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19

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.

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.12 Ref.15

Sequence similarities

Belongs to the cystinosin family.

Contains 2 PQ-loop domains.

Ontologies

Keywords
   Biological processTransport
   Cellular componentLysosome
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainRepeat
Transmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP metabolic process

Inferred from mutant phenotype PubMed 16439594. Source: UniProtKB

L-cystine transport

Inferred from direct assay PubMed 18337546. Source: MGI

adult walking behavior

Inferred from electronic annotation. Source: Ensembl

brain development

Inferred from mutant phenotype PubMed 17471495. Source: UniProtKB

cellular amino acid metabolic process

Non-traceable author statement Ref.1. Source: UniProtKB

cognition

Inferred from mutant phenotype PubMed 17471495. Source: UniProtKB

compound eye corneal lens development

Inferred from electronic annotation. Source: Ensembl

glutathione metabolic process

Inferred from mutant phenotype PubMed 15956064. Source: UniProtKB

grooming behavior

Inferred from electronic annotation. Source: Ensembl

long-term memory

Inferred from electronic annotation. Source: Ensembl

visual learning

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentextracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

intermediate filament cytoskeleton

Inferred from direct assay. Source: HPA

intracellular membrane-bounded organelle

Inferred from direct assay. Source: HPA

late endosome

Inferred from direct assay PubMed 15128704. Source: UniProtKB

lysosomal membrane

Inferred from direct assay PubMed 11150305Ref.9. Source: UniProtKB

lysosome

Inferred from direct assay PubMed 18337546PubMed 18337546. Source: MGI

plasma membrane

Inferred from direct assay PubMed 18337546. Source: MGI

   Molecular_functionL-cystine transmembrane transporter activity

Inferred from mutant phenotype PubMed 15128704. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60931-1)

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.
Isoform 2 (identifier: O60931-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 367367Cystinosin
PRO_0000205514

Regions

Topological domain1 – 121121Lumenal Potential
Transmembrane122 – 14221Helical; Potential
Topological domain143 – 16119Cytoplasmic Potential
Transmembrane162 – 18221Helical; Potential
Topological domain183 – 20523Lumenal Potential
Transmembrane206 – 22621Helical; Potential
Topological domain227 – 23711Cytoplasmic Potential
Transmembrane238 – 25821Helical; Potential
Topological domain259 – 2613Lumenal Potential
Transmembrane262 – 28221Helical; Potential
Topological domain283 – 29715Cytoplasmic Potential
Transmembrane298 – 31821Helical; Potential
Topological domain319 – 33517Lumenal Potential
Transmembrane336 – 35621Helical; Potential
Topological domain357 – 36711Cytoplasmic Potential
Domain123 – 18967PQ-loop 1
Domain263 – 32866PQ-loop 2
Motif362 – 3665Lysosomal targeting motif Potential

Amino acid modifications

Glycosylation361N-linked (GlcNAc...) Potential
Glycosylation411N-linked (GlcNAc...) Potential
Glycosylation511N-linked (GlcNAc...) Potential
Glycosylation661N-linked (GlcNAc...) Potential
Glycosylation841N-linked (GlcNAc...) Potential
Glycosylation1041N-linked (GlcNAc...) Potential
Glycosylation1071N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence363 – 3675YDQLN → LQAARTGSGSRLRQDWAPSL QPKALPQTTSVSASSLKG in isoform 2.
VSP_038377
Natural variant421V → I. Ref.13
Corresponds to variant rs35086888 [ dbSNP | Ensembl ].
VAR_010285
Natural variant67 – 737Missing in CTNSJAN.
VAR_010674
Natural variant1101G → V in CTNS; atypical. Ref.15
VAR_037318
Natural variant1331I → F in CTNS. Ref.11
VAR_010677
Natural variant1391S → F in CTNS; atypical. Ref.13
VAR_010678
Natural variant1511R → G in CTNS. Ref.19
VAR_067490
Natural variant1541S → SPCS in CTNSJAN.
VAR_010679
Natural variant1571G → D in CTNS. Ref.19
VAR_067491
Natural variant1581L → P in CTNS. Ref.11
VAR_010680
Natural variant1691G → D in CTNS. Ref.10
VAR_010286
Natural variant1731Y → C in CTNS. Ref.19
VAR_067492
Natural variant1771N → S in CTNS. Ref.17
VAR_067493
Natural variant1771N → T in CTNSJAN. Ref.15
VAR_037319
Natural variant1821W → R in CTNS. Ref.10
VAR_010681
Natural variant1971G → R in CTNSANN.
VAR_010682
Natural variant2001P → L in CTNSJAN. Ref.15
VAR_037320
Natural variant2051D → N in CTNS. Ref.10
VAR_010683
Natural variant2051Missing in CTNS. Ref.10
VAR_010684
Natural variant2221Q → R in CTNS. Ref.15
VAR_037321
Natural variant2601T → I. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6 Ref.7 Ref.16
Corresponds to variant rs161400 [ dbSNP | Ensembl ].
VAR_060371
Natural variant2701Missing in CTNS. Ref.13
VAR_010689
Natural variant2801K → R in CTNSJAN. Ref.12
VAR_010287
Natural variant2871M → I in CTNS. Ref.16
VAR_067494
Natural variant2881N → K in CTNS. Ref.15
VAR_037322
Natural variant2921K → R Found in patients with cystinosis; uncertain pathological significance. Ref.10
Corresponds to variant rs1800527 [ dbSNP | Ensembl ].
VAR_012314
Natural variant2981S → N in CTNS. Ref.10
VAR_012315
Natural variant3051D → G in CTNS. Ref.10
VAR_010690
Natural variant3051D → Y in CTNS. Ref.13
VAR_010691
Natural variant3081G → R in CTNS. Ref.10 Ref.13 Ref.16
VAR_010692
Natural variant3081G → V in CTNS. Ref.14
VAR_067495
Natural variant3091G → D in CTNS. Ref.18
VAR_067496
Natural variant3231N → K in CTNSJAN. Ref.12 Ref.18
VAR_010288
Natural variant3371G → R in CTNS. Ref.16
VAR_067497
Natural variant3381L → P in CTNS. Ref.13
VAR_010694
Natural variant3381L → R in CTNS. Ref.17
VAR_067498
Natural variant3391G → R in CTNS. Ref.10 Ref.13 Ref.14 Ref.16
VAR_010695
Natural variant343 – 3464Missing in CTNS.
VAR_010697
Natural variant346 – 3494Missing in CTNS.
VAR_037323
Natural variant3461D → N in CTNS; atypical. Ref.13
VAR_010698
Natural variant3491F → FDVEF in CTNS.
VAR_037324

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 24, 2009. Version 2.
Checksum: 9343889CD7576908

FASTA36741,738
        10         20         30         40         50         60 
MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRPPL NATLVITFEI 

        70         80         90        100        110        120 
TFRSKNITIL ELPDEVVVPP GVTNSSFQVT SQNVGQLTVY LHGNHSNQTG PRIRFLVIRS 

       130        140        150        160        170        180 
SAISIINQVI GWIYFVAWSI SFYPQVIMNW RRKSVIGLSF DFVALNLTGF VAYSVFNIGL 

       190        200        210        220        230        240 
LWVPYIKEQF LLKYPNGVNP VNSNDVFFSL HAVVLTLIII VQCCLYERGG QRVSWPAIGF 

       250        260        270        280        290        300 
LVLAWLFAFV TMIVAAVGVT TWLQFLFCFS YIKLAVTLVK YFPQAYMNFY YKSTEGWSIG 

       310        320        330        340        350        360 
NVLLDFTGGS FSLLQMFLQS YNNDQWTLIF GDPTKFGLGV FSIVFDVVFF IQHFCLYRKR 


PGYDQLN 

« Hide

Isoform 2 [UniParc].

Checksum: 47AF39E14090DFC2
Show »

FASTA40045,039

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Integral and associated lysosomal membrane proteins."
Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H., Elsaesser H.-P., Mann M., Hasilik A.
Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Tissue: Placenta.
[10]"CTNS mutations in an American-based population of cystinosis patients."
Shotelersuk V., Larson D., Anikster Y., McDowell G., Lemons R., Bernardini I., Guo J., Thoene J., Gahl W.A.
Am. J. Hum. Genet. 63:1352-1362(1998) [PubMed] [Europe PMC] [Abstract]
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]"Mutations of CTNS causing intermediate cystinosis."
Thoene J., Lemons R., Anikster Y., Mullet J., Paelicke K., Lucero C., Gahl W.A., Schneider J., Shu S.G., Campbell H.T.
Mol. Genet. Metab. 67:283-293(1999) [PubMed] [Europe PMC] [Abstract]
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]"Mutational spectrum of the CTNS gene in Italy."
Mason S., Pepe G., Dall'Amico R., Tartaglia S., Casciani S., Greco M., Bencivenga P., Murer L., Rizzoni G., Tenconi R., Clementi M.
Eur. J. Hum. Genet. 11:503-508(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CTNS ILE-287; ARG-308; ARG-337 AND ARG-339, VARIANT ILE-260.
[17]"Characterization of CTNS mutations in Arab patients with cystinosis."
Aldahmesh M.A., Humeidan A., Almojalli H.A., Khan A.O., Rajab M., Al-Abbad A.A., Meyer B.F., Alkuraya F.S.
Ophthalmic Genet. 30:185-189(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CTNS SER-177 AND ARG-338.
[18]"Two novel CTNS mutations in cystinosis patients in Thailand."
Yeetong P., Tongkobpetch S., Kingwatanakul P., Deekajorndech T., Bernardini I.M., Suphapeetiporn K., Gahl W.A., Shotelersuk V.
Gene 499:323-325(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CTNS ASP-309 AND LYS-323.
[19]"Genetic basis of cystinosis in Turkish patients: a single-center experience."
Topaloglu R., Vilboux T., Coskun T., Ozaltin F., Tinloy B., Gunay-Aygun M., Bakkaloglu A., Besbas N., van den Heuvel L., Kleta R., Gahl W.A.
Pediatr. Nephrol. 27:115-121(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CTNS GLY-151; ASP-157 AND CYS-173.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Y15924 expand/collapse EMBL AC list , 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.
RefSeqNP_001026851.2. NM_001031681.2.
NP_004928.2. NM_004937.2.
XP_005256542.1. XM_005256485.1.
UniGeneHs.187667.

3D structure databases

ProteinModelPortalO60931.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000371294.

Chemistry

DrugBankDB00138. L-Cystine.

Protein family/group databases

TCDB2.A.43.1.1. the lysosomal cystine transporter (lct) family.

Proteomic databases

PaxDbO60931.
PRIDEO60931.

Protocols and materials databases

DNASU1497.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000046640; ENSP00000046640; ENSG00000040531. [O60931-1]
ENST00000381870; ENSP00000371294; ENSG00000040531. [O60931-2]
GeneID1497.
KEGGhsa:1497.
UCSCuc002fwa.3. human. [O60931-2]
uc002fwb.3. human. [O60931-1]

Organism-specific databases

CTD1497.
GeneCardsGC17P003486.
HGNCHGNC:2518. CTNS.
HPAHPA046947.
MIM219750. phenotype.
219800. phenotype.
219900. phenotype.
606272. gene.
neXtProtNX_O60931.
Orphanet213. Cystinosis.
PharmGKBPA27019.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG266153.
HOGENOMHOG000192503.
HOVERGENHBG003083.
KOK12386.
OMAFQVTSQN.
OrthoDBEOG7T1RBM.
PhylomeDBO60931.
TreeFamTF313589.

Gene expression databases

ArrayExpressO60931.
BgeeO60931.
CleanExHS_CTNS.
GenevestigatorO60931.

Family and domain databases

InterProIPR005282. LC_transporter.
IPR006603. PQ-loop_rpt.
[Graphical view]
PANTHERPTHR13131. PTHR13131. 1 hit.
PfamPF04193. PQ-loop. 2 hits.
[Graphical view]
SMARTSM00679. CTNS. 2 hits.
[Graphical view]
TIGRFAMsTIGR00951. 2A43. 1 hit.
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Other

ChiTaRSCTNS. human.
GeneWikiCTNS_(gene).
GenomeRNAi1497.
NextBio6153.
PROO60931.
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Entry information

Entry nameCTNS_HUMAN
AccessionPrimary (citable) accession number: O60931
Secondary accession number(s): D3DTJ5, Q8IZ01, Q9UNK6
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 24, 2009
Last modified: April 16, 2014
This is version 120 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM