ID   I3L484_HUMAN            Unreviewed;        53 AA.
AC   I3L484;
DT   11-JUL-2012, integrated into UniProtKB/TrEMBL.
DT   11-JUL-2012, sequence version 1.
DT   12-SEP-2018, entry version 36.
DE   SubName: Full=Cystinosin {ECO:0000313|Ensembl:ENSP00000461056};
DE   SubName: Full=Cystinosis nephropathic isoform 4 {ECO:0000313|EMBL:ALQ33464.1};
GN   Name=CTNS {ECO:0000313|EMBL:ALQ33464.1,
GN   ECO:0000313|Ensembl:ENSP00000461056};
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:ENSP00000461056, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000461056, 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:ENSP00000461056}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (MAY-2012) to UniProtKB.
RN   [3] {ECO:0000313|EMBL:ALQ33464.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=26871637; DOI=10.1016/j.cell.2016.01.029;
RA   Yang X., Coulombe-Huntington J., Kang S., Sheynkman G.M., Hao T.,
RA   Richardson A., Sun S., Yang F., Shen Y.A., Murray R., Spirohn K.,
RA   Begg B.E., Duran-Frigola M., MacWilliams A., Pevzner S.J., Zhong Q.,
RA   Trigg S.A., Tam S., Ghamsari L., Sahni N., Yi S., Rodriguez M.D.,
RA   Balcha D., Tan G., Costanzo M., Andrews B., Boone C., Zhou X.J.,
RA   Salehi-Ashtiani K., Charloteaux B., Chen A., Calderwood M.A., Aloy P.,
RA   Roth F.P., Hill D.E., Iakoucheva L.M., Xia Y., Vidal M.;
RT   "Widespread Expansion of Protein Interaction Capabilities by
RT   Alternative Splicing.";
RL   Cell 164:805-817(2016).
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DR   EMBL; AC027796; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; KU178006; ALQ33464.1; -; mRNA.
DR   UniGene; Hs.187667; -.
DR   PeptideAtlas; I3L484; -.
DR   PRIDE; I3L484; -.
DR   Ensembl; ENST00000467663; ENSP00000461056; ENSG00000040531.
DR   UCSC; uc059zqj.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; I3L484; baseline and differential.
PE   2: Evidence at transcript level;
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     53       {ECO:0000256|SAM:SignalP}.
FT                                /FTId=PRO_5014098407.
SQ   SEQUENCE   53 AA;  6032 MW;  D79589A759563B9E CRC64;
     MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRLWC LLE
//