KEGG   Homo sapiens (human): 1497Help
Entry
1497              CDS       T01001                                 

Gene name
CTNS, CTNS-LSB, PQLC4, SLC66A4
Definition
(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 OrthologParalogGFIT
Motif
Pfam: PQ-loop TPPK_C
Motif
Other DBs
NCBI-GeneID: 1497
NCBI-ProteinID: NP_004928
OMIM: 606272
HGNC: 2518
Ensembl: ENSG00000040531
Vega: OTTHUMG00000090693
Pharos: O60931(Tbio)
UniProt: O60931 A0A0S2Z3K3
LinkDB All DBs
Position
17p13.2
AA seq 367 aa AA seqDB search
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEI
TFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRS
SAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGL
LWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIG
NVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKR
PGYDQLN
NT seq 1104 nt NT seq  +upstreamnt  +downstreamnt
atgataaggaattggctgactatttttatcctttttcccctgaagctcgtagagaaatgt
gagtcaagcgtcagcctcactgttcctcctgtcgtaaagctggagaacggcagctcgacc
aacgtcagcctcaccctgcggccaccattaaatgcaaccctggtgatcacttttgaaatc
acatttcgttccaaaaatattactatccttgagctccccgatgaagttgtggtgcctcct
ggagtgacaaactcctcttttcaagtgacatctcaaaatgttggacaacttactgtttat
ctacatggaaatcactccaatcagaccggcccgaggatacgctttcttgtgatccgcagc
agcgccattagcatcataaaccaggtgattggctggatctactttgtggcctggtccatc
tccttctaccctcaggtgatcatgaattggaggcggaaaagtgtcattggtctgagcttc
gacttcgtggctctgaacctgacgggcttcgtggcctacagtgtattcaacatcggcctc
ctctgggtgccctacatcaaggagcagtttctcctcaaataccccaacggagtgaacccc
gtgaacagcaacgacgtcttcttcagcctgcacgcggttgtcctcacgctgatcatcatc
gtgcagtgctgcctgtatgagcgcggtggccagcgcgtgtcctggcctgccatcggcttc
ctggtgctcgcgtggctcttcgcatttgtcaccatgatcgtggctgcagtgggagtgacc
acgtggctgcagtttctcttctgcttctcctacatcaagctcgcagtcacgctggtcaag
tattttccacaggcctacatgaacttttactacaaaagcactgagggctggagcattggc
aacgtgctcctggacttcaccgggggcagcttcagcctcctgcagatgttcctccagtcc
tacaacaacgaccagtggacgctgatcttcggagacccaaccaagtttggactcggggtc
ttctccatcgtcttcgacgtcgtcttcttcatccagcacttctgtttgtacagaaagaga
ccggggtatgaccagctgaactag

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