Cystinosin

Details

Name
Cystinosin
Synonyms
Not Available
Gene Name
CTNS
Organism
Humans
Amino acid sequence
>lcl|BSEQ0037667|Cystinosin
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEI
TFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRS
SAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGL
LWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIG
NVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKR
PGYDQLN
Number of residues
367
Molecular Weight
41737.6
Theoretical pI
9.21
GO Classification
Functions
L-cystine transmembrane transporter activity
Processes
adult walking behavior / ATP metabolic process / brain development / cellular amino acid metabolic process / cognition / glutathione metabolic process / grooming behavior / ion transport / L-cystine transport / lens development in camera-type eye / long-term memory / melanin biosynthetic process / transmembrane transport / visual learning
Components
extracellular exosome / integral component of membrane / intermediate filament cytoskeleton / intracellular membrane-bounded organelle / late endosome / lysosomal membrane / lysosome / melanosome / plasma membrane
General Function
L-cystine transmembrane transporter activity
Specific Function
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.
Pfam Domain Function
Transmembrane Regions
122-142 162-182 206-226 238-258 262-282 298-318 336-356
Cellular Location
Lysosome membrane
Gene sequence
>lcl|BSEQ0010137|Cystinosin (CTNS)
ATGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGT
GAGTCAAGCGTCAGCCTCACTGTTCCTCCTGTCGTAAAGCTGGAGAACGGCAGCTCGACC
AACGTCAGCCTCACCCTGCGGCCACCATTAAATGCAACCCTGGTGATCACTTTTGAAATC
ACATTTCGTTCCAAAAATATTACTATCCTTGAGCTCCCCGATGAAGTTGTGGTGCCTCCT
GGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTAT
CTACATGGAAATCACTCCAATCAGACCGGCCCGAGGATACGCTTTCTTGTGATCCGCAGC
AGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATC
TCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGTGTCATTGGTCTGAGCTTC
GACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTC
CTCTGGGTGCCCTACATCAAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCC
GTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATC
GTGCAGTGCTGCCTGTATGAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTC
CTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACC
ACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAG
TATTTTCCACAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGC
AACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCC
TACAACAACGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTC
TTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGA
CCGGGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCA
AGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGC
TGA
Chromosome Location
17
Locus
17p13
External Identifiers
ResourceLink
UniProtKB IDO60931
UniProtKB Entry NameCTNS_HUMAN
GenBank Protein ID3036851
GenBank Gene IDY15924
GenAtlas IDCTNS
HGNC IDHGNC:2518
General References
  1. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C: A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998 Apr;18(4):319-24. [Article]
  2. Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED: 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. Genome Res. 2000 Feb;10(2):165-73. [Article]
  3. 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 TO, 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: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
  4. Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 2006 Apr 20;440(7087):1045-9. [Article]
  5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  6. Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA: Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Mol Genet Metab. 1999 Feb;66(2):111-6. [Article]
  7. Anikster Y, Shotelersuk V, Gahl WA: CTNS mutations in patients with cystinosis. Hum Mutat. 1999;14(6):454-8. [Article]
  8. Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H, Elsasser HP, Mann M, Hasilik A: Integral and associated lysosomal membrane proteins. Traffic. 2007 Dec;8(12):1676-86. Epub 2007 Sep 26. [Article]
  9. Taranta A, Petrini S, Palma A, Mannucci L, Wilmer MJ, De Luca V, Diomedi-Camassei F, Corallini S, Bellomo F, van den Heuvel LP, Levtchenko EN, Emma F: Identification and subcellular localization of a new cystinosin isoform. Am J Physiol Renal Physiol. 2008 May;294(5):F1101-8. doi: 10.1152/ajprenal.00413.2007. Epub 2008 Mar 12. [Article]
  10. Chiaverini C, Sillard L, Flori E, Ito S, Briganti S, Wakamatsu K, Fontas E, Berard E, Cailliez M, Cochat P, Foulard M, Guest G, Niaudet P, Picardo M, Bernard FX, Antignac C, Ortonne JP, Ballotti R: Cystinosin is a melanosomal protein that regulates melanin synthesis. FASEB J. 2012 Sep;26(9):3779-89. doi: 10.1096/fj.11-201376. Epub 2012 May 30. [Article]
  11. Taranta A, Petrini S, Citti A, Boldrini R, Corallini S, Bellomo F, Levtchenko E, Emma F: Distribution of cystinosin-LKG in human tissues. Histochem Cell Biol. 2012 Aug;138(2):351-63. doi: 10.1007/s00418-012-0958-8. Epub 2012 Apr 29. [Article]
  12. Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA: CTNS mutations in an American-based population of cystinosis patients. Am J Hum Genet. 1998 Nov;63(5):1352-62. [Article]
  13. McGowan-Jordan J, Stoddard K, Podolsky L, Orrbine E, McLaine P, Town M, Goodyer P, MacKenzie A, Heick H: Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. Eur J Hum Genet. 1999 Sep;7(6):671-8. [Article]
  14. Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT: Mutations of CTNS causing intermediate cystinosis. Mol Genet Metab. 1999 Aug;67(4):283-93. [Article]
  15. Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M: Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. Hum Mol Genet. 1999 Dec;8(13):2507-14. [Article]
  16. Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA: Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatr Res. 2000 Jan;47(1):17-23. [Article]
  17. Kiehntopf M, Schickel J, Gonne Bv, Koch HG, Superti-Furga A, Steinmann B, Deufel T, Harms E: Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. Hum Mutat. 2002 Sep;20(3):237. [Article]
  18. Kalatzis V, Cohen-Solal L, Cordier B, Frishberg Y, Kemper M, Nuutinen EM, Legrand E, Cochat P, Antignac C: Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. Hum Mutat. 2002 Dec;20(6):439-46. [Article]
  19. Mason S, Pepe G, Dall'Amico R, Tartaglia S, Casciani S, Greco M, Bencivenga P, Murer L, Rizzoni G, Tenconi R, Clementi M: Mutational spectrum of the CTNS gene in Italy. Eur J Hum Genet. 2003 Jul;11(7):503-8. [Article]
  20. Aldahmesh MA, Humeidan A, Almojalli HA, Khan AO, Rajab M, AL-Abbad AA, Meyer BF, Alkuraya FS: Characterization of CTNS mutations in Arab patients with cystinosis. Ophthalmic Genet. 2009 Dec;30(4):185-9. doi: 10.3109/13816810903200953. [Article]
  21. Yeetong P, Tongkobpetch S, Kingwatanakul P, Deekajorndech T, Bernardini IM, Suphapeetiporn K, Gahl WA, Shotelersuk V: Two novel CTNS mutations in cystinosis patients in Thailand. Gene. 2012 May 15;499(2):323-5. doi: 10.1016/j.gene.2012.03.047. Epub 2012 Mar 16. [Article]
  22. Topaloglu R, Vilboux T, Coskun T, Ozaltin F, Tinloy B, Gunay-Aygun M, Bakkaloglu A, Besbas N, van den Heuvel L, Kleta R, Gahl WA: Genetic basis of cystinosis in Turkish patients: a single-center experience. Pediatr Nephrol. 2012 Jan;27(1):115-21. doi: 10.1007/s00467-011-1942-6. Epub 2011 Jul 24. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00138Cystineapproved, nutraceuticalunknownDetails