Details of the Drug Therapeutic Target (DTT)

General Information of Drug Therapeutic Target (DTT) (ID: TT1W2ZS)

DTT Name	Cystinosin (CTNS)
Gene Name	CTNS
DTT Type	Clinical trial target	[1]
UniProt ID	CTNS_HUMAN
TTD ID	T63246
3D Structure	Download 2D Sequence (FASTA) Download 3D Structure (PDB) Download
Sequence	MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEI TFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRS SAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGL LWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIG NVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKR PGYDQLN
Function	Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes (PubMed:11689434, PubMed:18337546, PubMed:22232659, PubMed:29467429, PubMed:33208952, PubMed:15128704). Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis (PubMed:22649030). In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, via interactions with components of the v-ATPase and Ragulator complexes (By similarity). Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity (By similarity). {ECO:0000250\|UniProtKB:P57757, ECO:0000269\|PubMed:11689434, ECO:0000269\|PubMed:15128704, ECO:0000269\|PubMed:18337546, ECO:0000269\|PubMed:22232659, ECO:0000269\|PubMed:22649030, ECO:0000269\|PubMed:29467429, ECO:0000269\|PubMed:33208952}.
KEGG Pathway	1497 (hsa )
Reactome Pathway	( ) (R-HSA-425393 ) (R-HSA-5223345 )

Molecular Interaction Atlas (MIA) of This DTT

Molecular Interaction Atlas (MIA)

MIA Detail

Jump to Detail Molecular Interaction Atlas of This DTT

1 Clinical Trial Drug(s) Targeting This DTT

Drug Name	Drug ID	Indication	ICD 11	Highest Status	REF
AVR-RD-04	DMANO7A	Cystinosis	5C60.1	Clinical trial	[1]
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References

1	ClinicalTrials.gov (NCT05146830) A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04. U.S.National Institutes of Health.