ID   I3L0Z6_HUMAN            Unreviewed;       162 AA.
AC   I3L0Z6;
DT   11-JUL-2012, integrated into UniProtKB/TrEMBL.
DT   05-OCT-2016, sequence version 8.
DT   12-SEP-2018, entry version 43.
DE   SubName: Full=Cystinosin {ECO:0000313|Ensembl:ENSP00000458457};
DE   Flags: Fragment;
GN   Name=CTNS {ECO:0000313|Ensembl:ENSP00000458457};
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:ENSP00000458457, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000458457, 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:ENSP00000458457}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (MAY-2012) to UniProtKB.
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DR   EMBL; AC027796; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   ProteinModelPortal; I3L0Z6; -.
DR   PeptideAtlas; I3L0Z6; -.
DR   PRIDE; I3L0Z6; -.
DR   Ensembl; ENST00000576979; ENSP00000458457; ENSG00000040531.
DR   UCSC; uc059zqn.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; I3L0Z6; baseline and differential.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   InterPro; IPR005282; LC_transporter.
DR   InterPro; IPR006603; PQ-loop_rpt.
DR   PANTHER; PTHR13131; PTHR13131; 1.
DR   Pfam; PF04193; PQ-loop; 1.
PE   4: Predicted;
KW   Complete proteome {ECO:0000313|Proteomes:UP000005640};
KW   Membrane {ECO:0000256|SAM:Phobius};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Signal {ECO:0000256|SAM:SignalP};
KW   Transmembrane {ECO:0000256|SAM:Phobius};
KW   Transmembrane helix {ECO:0000256|SAM:Phobius}.
FT   SIGNAL        1     22       {ECO:0000256|SAM:SignalP}.
FT   CHAIN        23    162       {ECO:0000256|SAM:SignalP}.
FT                                /FTId=PRO_5008418815.
FT   TRANSMEM    122    143       Helical. {ECO:0000256|SAM:Phobius}.
FT   NON_TER     162    162       {ECO:0000313|Ensembl:ENSP00000458457}.
SQ   SEQUENCE   162 AA;  18265 MW;  4799E7D22D37833D CRC64;
     MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRPPL NATLVITFEI
     TFRSKNITIL ELPDEVVVPP GVTNSSFQVT SQNVGQLTVY LHGNHSNQTG PRIRFLVIRS
     SAISIINQVI GWIYFVAWSI SFYPQVIMNW RRKSVIGLSF DF
//