ID C9JMM9_HUMAN Unreviewed; 75 AA. AC C9JMM9; DT 03-NOV-2009, integrated into UniProtKB/TrEMBL. DT 03-NOV-2009, sequence version 1. DT 12-SEP-2018, entry version 48. DE SubName: Full=Cystinosin {ECO:0000313|Ensembl:ENSP00000408652}; DE Flags: Fragment; GN Name=CTNS {ECO:0000313|Ensembl:ENSP00000408652}; 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:ENSP00000408652, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000408652, 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:ENSP00000408652} 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; C9JMM9; -. DR PeptideAtlas; C9JMM9; -. DR PRIDE; C9JMM9; -. DR Ensembl; ENST00000452111; ENSP00000408652; ENSG00000040531. DR UCSC; uc059zqg.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 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; C9JMM9; 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 75 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5002997260. FT NON_TER 75 75 {ECO:0000313|Ensembl:ENSP00000408652}. SQ SEQUENCE 75 AA; 8442 MW; E1AA551F1C8D1662 CRC64; MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRPPL NATLVITFEI TFRSKNITIL ELPDE //