Homo sapiens (human): 1497
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Entry
1497 CDS
T01001
Symbol
CTNS, CTNS-LSB, PQLC4, SLC66A4
Name
(RefSeq) cystinosin, lysosomal cystine transporter
KO
K12386
cystinosin
Organism
hsa
Homo sapiens (human)
Pathway
hsa04142
Lysosome
Disease
H00275
Cystinosis
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome
1497 (CTNS)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04147 Exosome [BR:
hsa04147
]
1497 (CTNS)
Exosome [BR:
hsa04147
]
Exosomal proteins
Exosomal proteins of other body fluids (saliva and urine)
1497 (CTNS)
BRITE hierarchy
SSDB
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Paralog
Gene cluster
GFIT
Motif
Pfam:
PQ-loop
Motif
Other DBs
NCBI-GeneID:
1497
NCBI-ProteinID:
NP_004928
OMIM:
606272
HGNC:
2518
Ensembl:
ENSG00000040531
UniProt:
O60931
A0A0S2Z3K3
Structure
PDB
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All DBs
Position
17:3636459..3663103
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AA seq
367 aa
AA seq
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MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEI
TFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRS
SAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGL
LWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIG
NVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKR
PGYDQLN
NT seq
1104 nt
NT seq
+upstream
nt +downstream
nt
atgataaggaattggctgactatttttatcctttttcccctgaagctcgtagagaaatgt
gagtcaagcgtcagcctcactgttcctcctgtcgtaaagctggagaacggcagctcgacc
aacgtcagcctcaccctgcggccaccattaaatgcaaccctggtgatcacttttgaaatc
acatttcgttccaaaaatattactatccttgagctccccgatgaagttgtggtgcctcct
ggagtgacaaactcctcttttcaagtgacatctcaaaatgttggacaacttactgtttat
ctacatggaaatcactccaatcagaccggcccgaggatacgctttcttgtgatccgcagc
agcgccattagcatcataaaccaggtgattggctggatctactttgtggcctggtccatc
tccttctaccctcaggtgatcatgaattggaggcggaaaagtgtcattggtctgagcttc
gacttcgtggctctgaacctgacgggcttcgtggcctacagtgtattcaacatcggcctc
ctctgggtgccctacatcaaggagcagtttctcctcaaataccccaacggagtgaacccc
gtgaacagcaacgacgtcttcttcagcctgcacgcggttgtcctcacgctgatcatcatc
gtgcagtgctgcctgtatgagcgcggtggccagcgcgtgtcctggcctgccatcggcttc
ctggtgctcgcgtggctcttcgcatttgtcaccatgatcgtggctgcagtgggagtgacc
acgtggctgcagtttctcttctgcttctcctacatcaagctcgcagtcacgctggtcaag
tattttccacaggcctacatgaacttttactacaaaagcactgagggctggagcattggc
aacgtgctcctggacttcaccgggggcagcttcagcctcctgcagatgttcctccagtcc
tacaacaacgaccagtggacgctgatcttcggagacccaaccaagtttggactcggggtc
ttctccatcgtcttcgacgtcgtcttcttcatccagcacttctgtttgtacagaaagaga
ccggggtatgaccagctgaactag
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