O60931 (CTNS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cystinosin

Gene names

Name:

CTNS

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	367 AA.
Sequence status	Complete.
Protein existence	Evidence 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 benigne 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 process	Transport
Cellular component	Lysosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Repeat Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP 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: Compara brain development Inferred from mutant phenotype PubMed 17471495. Source: UniProtKB cognition Inferred from mutant phenotype PubMed 17471495. Source: UniProtKB compound eye corneal lens development Inferred from electronic annotation. Source: Compara glutathione metabolic process Inferred from mutant phenotype PubMed 15956064. Source: UniProtKB grooming behavior Inferred from electronic annotation. Source: Compara long-term memory Inferred from electronic annotation. Source: Compara visual learning Inferred from electronic annotation. Source: Compara
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW late endosome Inferred from direct assay PubMed 15128704. Source: UniProtKB lysosomal membrane Inferred from direct assay PubMed 11150305. Source: UniProtKB lysosome Inferred from direct assay PubMed 18337546PubMed 18337546. Source: MGI plasma membrane Inferred from direct assay PubMed 18337546. Source: MGI
Molecular_function	L-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 367	367	Cystinosin		PRO_0000205514
Regions
	Topological domain	1 – 121	121	Lumenal Potential
	Transmembrane	122 – 142	21	Helical; Potential
	Topological domain	143 – 161	19	Cytoplasmic Potential
	Transmembrane	162 – 182	21	Helical; Potential
	Topological domain	183 – 205	23	Lumenal Potential
	Transmembrane	206 – 226	21	Helical; Potential
	Topological domain	227 – 237	11	Cytoplasmic Potential
	Transmembrane	238 – 258	21	Helical; Potential
	Topological domain	259 – 261	3	Lumenal Potential
	Transmembrane	262 – 282	21	Helical; Potential
	Topological domain	283 – 297	15	Cytoplasmic Potential
	Transmembrane	298 – 318	21	Helical; Potential
	Topological domain	319 – 335	17	Lumenal Potential
	Transmembrane	336 – 356	21	Helical; Potential
	Topological domain	357 – 367	11	Cytoplasmic Potential
	Domain	123 – 189	67	PQ-loop 1
	Domain	263 – 328	66	PQ-loop 2
	Motif	362 – 366	5	Lysosomal targeting motif Potential
Amino acid modifications
	Glycosylation	36	1	N-linked (GlcNAc...) Potential
	Glycosylation	41	1	N-linked (GlcNAc...) Potential
	Glycosylation	51	1	N-linked (GlcNAc...) Potential
	Glycosylation	66	1	N-linked (GlcNAc...) Potential
	Glycosylation	84	1	N-linked (GlcNAc...) Potential
	Glycosylation	104	1	N-linked (GlcNAc...) Potential
	Glycosylation	107	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	363 – 367	5	YDQLN → LQAARTGSGSRLRQDWAPSL QPKALPQTTSVSASSLKG in isoform 2.		VSP_038377
	Natural variant	42	1	V → I. Ref.13 Corresponds to variant rs35086888 [ dbSNP | Ensembl ].		VAR_010285
	Natural variant	67 – 73	7	Missing in CTNSJAN.		VAR_010674
	Natural variant	110	1	G → V in CTNS; atypical. Ref.15		VAR_037318
	Natural variant	133	1	I → F in CTNS. Ref.11		VAR_010677
	Natural variant	139	1	S → F in CTNS; atypical. Ref.13		VAR_010678
	Natural variant	151	1	R → G in CTNS. Ref.19		VAR_067490
	Natural variant	154	1	S → SPCS in CTNSJAN.		VAR_010679
	Natural variant	157	1	G → D in CTNS. Ref.19		VAR_067491
	Natural variant	158	1	L → P in CTNS. Ref.11		VAR_010680
	Natural variant	169	1	G → D in CTNS. Ref.10		VAR_010286
	Natural variant	173	1	Y → C in CTNS. Ref.19		VAR_067492
	Natural variant	177	1	N → S in CTNS. Ref.17		VAR_067493
	Natural variant	177	1	N → T in CTNSJAN. Ref.15		VAR_037319
	Natural variant	182	1	W → R in CTNS. Ref.10		VAR_010681
	Natural variant	197	1	G → R in CTNSANN.		VAR_010682
	Natural variant	200	1	P → L in CTNSJAN. Ref.15		VAR_037320
	Natural variant	205	1	D → N in CTNS. Ref.10		VAR_010683
	Natural variant	205	1	Missing in CTNS. Ref.10		VAR_010684
	Natural variant	222	1	Q → R in CTNS. Ref.15		VAR_037321
	Natural variant	260	1	T → I. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6 Ref.7 Ref.16 Corresponds to variant rs161400 [ dbSNP | Ensembl ].		VAR_060371
	Natural variant	270	1	Missing in CTNS. Ref.13		VAR_010689
	Natural variant	280	1	K → R in CTNSJAN. Ref.12		VAR_010287
	Natural variant	287	1	M → I in CTNS. Ref.16		VAR_067494
	Natural variant	288	1	N → K in CTNS. Ref.15		VAR_037322
	Natural variant	292	1	K → R Found in patients with cystinosis; uncertain pathological significance. Ref.10 Corresponds to variant rs1800527 [ dbSNP | Ensembl ].		VAR_012314
	Natural variant	298	1	S → N in CTNS. Ref.10		VAR_012315
	Natural variant	305	1	D → G in CTNS. Ref.10		VAR_010690
	Natural variant	305	1	D → Y in CTNS. Ref.13		VAR_010691
	Natural variant	308	1	G → R in CTNS. Ref.10 Ref.13 Ref.16		VAR_010692
	Natural variant	308	1	G → V in CTNS. Ref.14		VAR_067495
	Natural variant	309	1	G → D in CTNS. Ref.18		VAR_067496
	Natural variant	323	1	N → K in CTNSJAN. Ref.12 Ref.18		VAR_010288
	Natural variant	337	1	G → R in CTNS. Ref.16		VAR_067497
	Natural variant	338	1	L → P in CTNS. Ref.13		VAR_010694
	Natural variant	338	1	L → R in CTNS. Ref.17		VAR_067498
	Natural variant	339	1	G → R in CTNS. Ref.10 Ref.13 Ref.14 Ref.16		VAR_010695
	Natural variant	343 – 346	4	Missing in CTNS.		VAR_010697
	Natural variant	346 – 349	4	Missing in CTNS.		VAR_037323
	Natural variant	346	1	D → N in CTNS; atypical. Ref.13		VAR_010698
	Natural variant	349	1	F → FDVEF in CTNS.		VAR_037324

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 24, 2009. Version 2. Checksum: 9343889CD7576908	FASTA	367	41,738
	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
	Isoform 2 [UniParc]. Checksum: 47AF39E14090DFC2	FASTA	400	45,039
	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 370 380 390 400 PGLQAARTGS GSRLRQDWAP SLQPKALPQT TSVSASSLKG

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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], MASS SPECTROMETRY. 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

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00412430. IPI00644266.
RefSeq	NP_001026851.2. NM_001031681.2. NP_004928.2. NM_004937.2.
UniGene	Hs.187667.
3D structure databases
ProteinModelPortal	O60931.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000371294.
Protein family/group databases
TCDB	2.A.43.1.1. lysosomal cystine transporter (LCT) family.
Proteomic databases
PaxDb	O60931.
PRIDE	O60931.
Protocols and materials databases
DNASU	1497.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000046640; ENSP00000046640; ENSG00000040531. ENST00000381870; ENSP00000371294; ENSG00000040531.
GeneID	1497.
KEGG	hsa:1497.
UCSC	uc002fwa.3. human. uc002fwb.3. human.
Organism-specific databases
CTD	1497.
GeneCards	GC17P003486.
HGNC	HGNC:2518. CTNS.
MIM	219750. phenotype. 219800. phenotype. 219900. phenotype. 606272. gene.
neXtProt	NX_O60931.
Orphanet	213. Cystinosis.
PharmGKB	PA27019.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG266153.
HOGENOM	HOG000192503.
HOVERGEN	HBG003083.
KO	K12386.
OMA	FQVTSQN.
OrthoDB	EOG4QVCCB.
PhylomeDB	O60931.
Gene expression databases
ArrayExpress	O60931.
Bgee	O60931.
CleanEx	HS_CTNS.
Genevestigator	O60931.
GermOnline	ENSG00000040531. Homo sapiens.
Family and domain databases
InterPro	IPR006603. CTNS. IPR005282. LC_transporter. [Graphical view]
PANTHER	PTHR13131. PTHR13131. 1 hit.
SMART	SM00679. CTNS. 2 hits. [Graphical view]
TIGRFAMs	TIGR00951. 2A43. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	CTNS. human.
DrugBank	DB00138. L-Cystine.
GenomeRNAi	1497.
NextBio	6153.
SOURCE	Search...

Entry information

Entry name

CTNS_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 111 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.