CTNS_CAEEL
ID CTNS_CAEEL Reviewed; 404 AA.
AC Q09500; Q8I4M4;
DT 21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT 21-FEB-2001, sequence version 2.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Cystinosin homolog;
GN Name=ctns-1; ORFNames=C41C4.7;
OS Caenorhabditis elegans.
OC Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida;
OC Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae;
OC Caenorhabditis.
OX NCBI_TaxID=6239;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND ALTERNATIVE SPLICING.
RC STRAIN=Bristol N2;
RX PubMed=9851916; DOI=10.1126/science.282.5396.2012;
RG The C. elegans sequencing consortium;
RT "Genome sequence of the nematode C. elegans: a platform for investigating
RT biology.";
RL Science 282:2012-2018(1998).
RN [2]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=18351800; DOI=10.1371/journal.pbio.0060061;
RA Yu X., Lu N., Zhou Z.;
RT "Phagocytic receptor CED-1 initiates a signaling pathway for degrading
RT engulfed apoptotic cells.";
RL PLoS Biol. 6:E61-E61(2008).
CC -!- FUNCTION: Cystine/H(+) symporter that mediates export of cystine, the
CC oxidized dimer of cysteine, from lysosomes (By similarity). May play a
CC role in the degradation of engulfed apoptotic cells (PubMed:18351800).
CC {ECO:0000250|UniProtKB:O60931, ECO:0000269|PubMed:18351800}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=H(+)(out) + L-cystine(out) = H(+)(in) + L-cystine(in);
CC Xref=Rhea:RHEA:66172, ChEBI:CHEBI:15378, ChEBI:CHEBI:35491;
CC Evidence={ECO:0000250|UniProtKB:O60931};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:66173;
CC Evidence={ECO:0000250|UniProtKB:O60931};
CC -!- SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:18351800};
CC Multi-pass membrane protein {ECO:0000269|PubMed:18351800}. Cytoplasmic
CC vesicle, phagosome {ECO:0000269|PubMed:18351800}. Note=During
CC degradation of apoptotic cells when lysosomes fuse to phagosomes,
CC located to phagosomal surfaces until the cell corpse is fully degraded.
CC {ECO:0000269|PubMed:18351800}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=a;
CC IsoId=Q09500-1; Sequence=Displayed;
CC Name=b;
CC IsoId=Q09500-2; Sequence=VSP_035818, VSP_035819;
CC -!- SIMILARITY: Belongs to the cystinosin family. {ECO:0000305}.
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DR EMBL; Z48045; CAA88102.2; -; Genomic_DNA.
DR EMBL; Z48045; CAD56564.1; -; Genomic_DNA.
DR PIR; T19875; T19875.
DR RefSeq; NP_495704.1; NM_063303.4. [Q09500-1]
DR RefSeq; NP_872022.1; NM_182222.4. [Q09500-2]
DR AlphaFoldDB; Q09500; -.
DR IntAct; Q09500; 1.
DR STRING; 6239.C41C4.7a; -.
DR EPD; Q09500; -.
DR PaxDb; Q09500; -.
DR PeptideAtlas; Q09500; -.
DR EnsemblMetazoa; C41C4.7a.1; C41C4.7a.1; WBGene00008052. [Q09500-1]
DR EnsemblMetazoa; C41C4.7b.1; C41C4.7b.1; WBGene00008052. [Q09500-2]
DR GeneID; 174308; -.
DR KEGG; cel:CELE_C41C4.7; -.
DR UCSC; C41C4.7a; c. elegans.
DR CTD; 174308; -.
DR WormBase; C41C4.7a; CE28541; WBGene00008052; ctns-1. [Q09500-1]
DR WormBase; C41C4.7b; CE32325; WBGene00008052; ctns-1. [Q09500-2]
DR eggNOG; KOG3145; Eukaryota.
DR GeneTree; ENSGT00390000005338; -.
DR InParanoid; Q09500; -.
DR OMA; WSAFYAN; -.
DR OrthoDB; 1138417at2759; -.
DR PhylomeDB; Q09500; -.
DR Reactome; R-CEL-425393; Transport of inorganic cations/anions and amino acids/oligopeptides.
DR Reactome; R-CEL-5223345; Miscellaneous transport and binding events.
DR PRO; PR:Q09500; -.
DR Proteomes; UP000001940; Chromosome II.
DR Bgee; WBGene00008052; Expressed in germ line (C elegans) and 4 other tissues.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005765; C:lysosomal membrane; IDA:WormBase.
DR GO; GO:0005764; C:lysosome; IDA:UniProtKB.
DR GO; GO:0045335; C:phagocytic vesicle; IEA:UniProtKB-SubCell.
DR GO; GO:0005774; C:vacuolar membrane; IBA:GO_Central.
DR GO; GO:0034639; F:L-amino acid efflux transmembrane transporter activity; IC:WormBase.
DR GO; GO:0015184; F:L-cystine transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0015293; F:symporter activity; IEA:UniProtKB-KW.
DR GO; GO:0015811; P:L-cystine transport; IMP:WormBase.
DR GO; GO:0007040; P:lysosome organization; IMP:WormBase.
DR GO; GO:0006909; P:phagocytosis; IDA:UniProtKB.
DR InterPro; IPR005282; LC_transporter.
DR InterPro; IPR006603; PQ-loop_rpt.
DR PANTHER; PTHR13131; PTHR13131; 1.
DR Pfam; PF04193; PQ-loop; 2.
DR SMART; SM00679; CTNS; 2.
DR TIGRFAMs; TIGR00951; 2A43; 1.
PE 3: Inferred from homology;
KW Alternative splicing; Cytoplasmic vesicle; Glycoprotein; Lysosome;
KW Membrane; Reference proteome; Repeat; Symport; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..404
FT /note="Cystinosin homolog"
FT /id="PRO_0000205516"
FT TOPO_DOM 20..123
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 124..144
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 145..163
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 164..184
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 185..207
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 208..228
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 229..238
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 239..259
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 260..263
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 264..285
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 286..295
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 296..316
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 317..337
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 338..358
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 359..404
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 125..191
FT /note="PQ-loop 1"
FT DOMAIN 266..327
FT /note="PQ-loop 2"
FT CARBOHYD 46
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 53
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 79
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 97
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 364..374
FT /note="VPHNEYHGVDN -> EPKKNQETSRF (in isoform b)"
FT /evidence="ECO:0000305"
FT /id="VSP_035818"
FT VAR_SEQ 375..404
FT /note="Missing (in isoform b)"
FT /evidence="ECO:0000305"
FT /id="VSP_035819"
SQ SEQUENCE 404 AA; 45394 MW; EEF8AEA512475433 CRC64;
MSFPVAFLLV LFLVPFTFAT NNLVVRQKEL EIVIGGEVSV NFQIKNHTSQ SLNATRISLS
QSPYISHPDA ILVDNWNANV TVLGSQLVSG AILEALNCTT DGSITCPLDL EDAFARITVI
RSHFLAILIQ IVGWTYFFAW SISFYPQMYL NFKRKSVVGL NFDFLSLNLV GFCAYAIFNL
LMYYNSHVKN EYNIVNPRSP PPVLLNDVVF AVHAFLACFI TILQCLFYER DNQSVSSKCI
ALMIVLISFG FCSAAATVLR KIQLLSFVTS LSYIKMAVTC CKYFPQAYFN YTRKSTVGWS
IGNIMLDFTG GTLDILQMIL QAVNVNDWSA FYANPVKFGL GFVSIFFDII FMVQHYVLYP
NAEVPHNEYH GVDNPNPDNI ARDAEQYAGD SESMESTEPI IVHD
