ID A8MXW3_HUMAN Unreviewed; 122 AA. AC A8MXW3; DT 04-DEC-2007, integrated into UniProtKB/TrEMBL. DT 14-OCT-2008, sequence version 2. DT 12-SEP-2018, entry version 50. DE SubName: Full=Cystinosin {ECO:0000313|Ensembl:ENSP00000382245}; GN Name=CTNS {ECO:0000313|Ensembl:ENSP00000382245}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000382245, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000382245, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16625196; DOI=10.1038/nature04689; RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., RA Chang J.L., Chen C.K., Cook A., Corum B., Cuomo C.A., de Jong P.J., RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.; RT "DNA sequence of human chromosome 17 and analysis of rearrangement in RT the human lineage."; RL Nature 440:1045-1049(2006). RN [2] {ECO:0000313|Ensembl:ENSP00000382245} RP IDENTIFICATION. RG Ensembl; RL Submitted (JUL-2011) to UniProtKB. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AC027796; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR ProteinModelPortal; A8MXW3; -. DR EPD; A8MXW3; -. DR PeptideAtlas; A8MXW3; -. DR PRIDE; A8MXW3; -. DR Ensembl; ENST00000399306; ENSP00000382245; ENSG00000040531. DR UCSC; uc059zqm.1; human. DR EuPathDB; HostDB:ENSG00000040531.14; -. DR HGNC; HGNC:2518; CTNS. DR OpenTargets; ENSG00000040531; -. DR eggNOG; KOG3145; Eukaryota. DR eggNOG; ENOG410XQSD; LUCA. DR GeneTree; ENSGT00390000005338; -. DR HOGENOM; HOG000015372; -. DR ChiTaRS; CTNS; human. DR Proteomes; UP000005640; Chromosome 17. DR Bgee; ENSG00000040531; Expressed in 192 organ(s), highest expression level in adult mammalian kidney. DR ExpressionAtlas; A8MXW3; baseline and differential. PE 4: Predicted; KW Complete proteome {ECO:0000313|Proteomes:UP000005640}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}. FT SIGNAL 1 22 {ECO:0000256|SAM:SignalP}. FT CHAIN 23 122 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5002726834. SQ SEQUENCE 122 AA; 13465 MW; 948DD3FF4F4ED083 CRC64; MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRPPL NATLVITFEI TFRSKNITIL ELPDELVEAG GEECRDEISS HEAHQDGLQI SSEPPRKQTG VKHDQSPACG NL //