KEGG   Homo sapiens (human): 1497
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)
SSDB
Motif
Pfam: PQ-loop
Other DBs
NCBI-GeneID: 1497
NCBI-ProteinID: NP_004928
OMIM: 606272
HGNC: 2518
Ensembl: ENSG00000040531
UniProt: O60931 A0A0S2Z3K3
Structure
Position
17:3636459..3663103
AA seq 367 aa
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEI
TFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRS
SAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGL
LWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIG
NVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKR
PGYDQLN
NT seq 1104 nt   +upstreamnt  +downstreamnt
atgataaggaattggctgactatttttatcctttttcccctgaagctcgtagagaaatgt
gagtcaagcgtcagcctcactgttcctcctgtcgtaaagctggagaacggcagctcgacc
aacgtcagcctcaccctgcggccaccattaaatgcaaccctggtgatcacttttgaaatc
acatttcgttccaaaaatattactatccttgagctccccgatgaagttgtggtgcctcct
ggagtgacaaactcctcttttcaagtgacatctcaaaatgttggacaacttactgtttat
ctacatggaaatcactccaatcagaccggcccgaggatacgctttcttgtgatccgcagc
agcgccattagcatcataaaccaggtgattggctggatctactttgtggcctggtccatc
tccttctaccctcaggtgatcatgaattggaggcggaaaagtgtcattggtctgagcttc
gacttcgtggctctgaacctgacgggcttcgtggcctacagtgtattcaacatcggcctc
ctctgggtgccctacatcaaggagcagtttctcctcaaataccccaacggagtgaacccc
gtgaacagcaacgacgtcttcttcagcctgcacgcggttgtcctcacgctgatcatcatc
gtgcagtgctgcctgtatgagcgcggtggccagcgcgtgtcctggcctgccatcggcttc
ctggtgctcgcgtggctcttcgcatttgtcaccatgatcgtggctgcagtgggagtgacc
acgtggctgcagtttctcttctgcttctcctacatcaagctcgcagtcacgctggtcaag
tattttccacaggcctacatgaacttttactacaaaagcactgagggctggagcattggc
aacgtgctcctggacttcaccgggggcagcttcagcctcctgcagatgttcctccagtcc
tacaacaacgaccagtggacgctgatcttcggagacccaaccaagtttggactcggggtc
ttctccatcgtcttcgacgtcgtcttcttcatccagcacttctgtttgtacagaaagaga
ccggggtatgaccagctgaactag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (1)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (17)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (14)   
DNA sequence (46)   
   RefSeq(nuc) (16)   
   GenBank (15)   
   EMBL (15)   
3D Structure (6)   
   PDB (6)   
Protein domain (1)   
   Pfam (1)   
All databases (94)   

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