LOCUS       NM_001191647            2010 bp    mRNA    linear   ROD 31-MAR-2024
DEFINITION  Rattus norvegicus cystinosin, lysosomal cystine transporter (Ctns),
            mRNA.
ACCESSION   NM_001191647 XM_220649
VERSION     NM_001191647.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2010)
  AUTHORS   Hollywood,J.A., Kallingappa,P.K., Cheung,P.Y., Martis,R.M.,
            Sreebhavan,S., 'Atiola,R.D., Chatterjee,A., Buckels,E.J.,
            Matthews,B.G., Lewis,P.M. and Davidson,A.J.
  TITLE     Cystinosin-deficient rats recapitulate the phenotype of
            nephropathic cystinosis
  JOURNAL   Am J Physiol Renal Physiol 323 (2), F156-F170 (2022)
   PUBMED   35695380
REFERENCE   2  (bases 1 to 2010)
  AUTHORS   Shimizu,Y., Yanobu-Takanashi,R., Nakano,K., Hamase,K., Shimizu,T.
            and Okamura,T.
  TITLE     A deletion in the Ctns gene causes renal tubular dysfunction and
            cystine accumulation in LEA/Tohm rats
  JOURNAL   Mamm Genome 30 (1-2), 23-33 (2019)
   PUBMED   30591971
  REMARK    GeneRIF: These results indicated that the F344-Ctns(ugl) rat
            provides a novel rat model of cystinosis, which allows not only a
            better understanding of the pathogenesis and pathophysiology of
            cystinosis but will also contribute to the development of new
            therapies
REFERENCE   3  (bases 1 to 2010)
  AUTHORS   McEvoy,B., Sumayao,R., Slattery,C., McMorrow,T. and Newsholme,P.
  TITLE     Cystine accumulation attenuates insulin release from the pancreatic
            beta-cell due to elevated oxidative stress and decreased ATP levels
  JOURNAL   J Physiol 593 (23), 5167-5182 (2015)
   PUBMED   26482480
REFERENCE   4  (bases 1 to 2010)
  AUTHORS   Rocca,C.J., Kreymerman,A., Ur,S.N., Frizzi,K.E., Naphade,S.,
            Lau,A., Tran,T., Calcutt,N.A., Goldberg,J.L. and Cherqui,S.
  TITLE     Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem
            Cell Transplantation
  JOURNAL   Invest Ophthalmol Vis Sci 56 (12), 7214-7223 (2015)
   PUBMED   26540660
REFERENCE   5  (bases 1 to 2010)
  AUTHORS   Napolitano,G., Johnson,J.L., He,J., Rocca,C.J., Monfregola,J.,
            Pestonjamasp,K., Cherqui,S. and Catz,S.D.
  TITLE     Impairment of chaperone-mediated autophagy leads to selective
            lysosomal degradation defects in the lysosomal storage disease
            cystinosis
  JOURNAL   EMBO Mol Med 7 (2), 158-174 (2015)
   PUBMED   25586965
REFERENCE   6  (bases 1 to 2010)
  AUTHORS   Anikster,Y., Lucero,C., Guo,J., Huizing,M., Shotelersuk,V.,
            Bernardini,I., McDowell,G., Iwata,F., Kaiser-Kupfer,M.I., Jaffe,R.,
            Thoene,J., Schneider,J.A. and Gahl,W.A.
  TITLE     Ocular nonnephropathic cystinosis: clinical, biochemical, and
            molecular correlations
  JOURNAL   Pediatr Res 47 (1), 17-23 (2000)
   PUBMED   10625078
REFERENCE   7  (bases 1 to 2010)
  AUTHORS   Anikster,Y., Lucero,C., Touchman,J.W., Huizing,M., McDowell,G.,
            Shotelersuk,V., Green,E.D. and Gahl,W.A.
  TITLE     Identification and detection of the common 65-kb deletion
            breakpoint in the nephropathic cystinosis gene (CTNS)
  JOURNAL   Mol Genet Metab 66 (2), 111-116 (1999)
   PUBMED   10068513
REFERENCE   8  (bases 1 to 2010)
  AUTHORS   Shotelersuk,V., Larson,D., Anikster,Y., McDowell,G., Lemons,R.,
            Bernardini,I., Guo,J., Thoene,J. and Gahl,W.A.
  TITLE     CTNS mutations in an American-based population of cystinosis
            patients
  JOURNAL   Am J Hum Genet 63 (5), 1352-1362 (1998)
   PUBMED   9792862
REFERENCE   9  (bases 1 to 2010)
  AUTHORS   Town,M., Jean,G., Cherqui,S., Attard,M., Forestier,L.,
            Whitmore,S.A., Callen,D.F., Gribouval,O., Broyer,M., Bates,G.P.,
            van't Hoff,W. and Antignac,C.
  TITLE     A novel gene encoding an integral membrane protein is mutated in
            nephropathic cystinosis
  JOURNAL   Nat Genet 18 (4), 319-324 (1998)
   PUBMED   9537412
REFERENCE   10 (bases 1 to 2010)
  AUTHORS   Gahl,W.A., Bashan,N., Tietze,F., Bernardini,I. and Schulman,J.D.
  TITLE     Cystine transport is defective in isolated leukocyte lysosomes from
            patients with cystinosis
  JOURNAL   Science 217 (4566), 1263-1265 (1982)
   PUBMED   7112129
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from
            JAXUCZ010000010.1.
            
            On Jul 17, 2010 this sequence version replaced XM_220649.5.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR26643298.61883.1,
                                           SRR26643297.34685.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA5760383,
                                           SAMEA5760386 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-64                JAXUCZ010000010.1  58315569-58315632   c
            65-144              JAXUCZ010000010.1  58313380-58313459   c
            145-223             JAXUCZ010000010.1  58309444-58309522   c
            224-308             JAXUCZ010000010.1  58308275-58308359   c
            309-412             JAXUCZ010000010.1  58305100-58305203   c
            413-544             JAXUCZ010000010.1  58304842-58304973   c
            545-644             JAXUCZ010000010.1  58304126-58304225   c
            645-764             JAXUCZ010000010.1  58303915-58304034   c
            765-935             JAXUCZ010000010.1  58302675-58302845   c
            936-1053            JAXUCZ010000010.1  58301660-58301777   c
            1054-2010           JAXUCZ010000010.1  58300534-58301490   c
FEATURES             Location/Qualifiers
     source          1..2010
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="10"
                     /map="10q24"
     gene            1..2010
                     /gene="Ctns"
                     /note="cystinosin, lysosomal cystine transporter"
                     /db_xref="GeneID:287478"
                     /db_xref="RGD:1308466"
     exon            1..64
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            65..144
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     CDS             84..1187
                     /gene="Ctns"
                     /note="cystinosis, nephropathic"
                     /codon_start=1
                     /product="cystinosin precursor"
                     /protein_id="NP_001178576.1"
                     /db_xref="GeneID:287478"
                     /db_xref="RGD:1308466"
                     /translation="MMKNWLLILTLFLLKFIERSESTVGLSAPPTVKLVNGSSTNVSI
                     TLGHPLNSTLVITFEITFSSKNLTIVELPDEVIVPRGEKNASFQVTSQNIGQVTVYLH
                     GNHSNQTCPRIQFLVIHSRIVSVINQVIGWIYFMAWSVSFYPQVIQNWRRKSVVGLSF
                     DFLALNLTGFVAYSVFNIGLLWVPYIQEEFLLKYPNGVNPVDINDAFFSLHAVALTLI
                     VILQCCLYERGNQRVSRPSIGFLVLAWLFILVTMIVAAVGVTTWLQFLFCFSYIKLII
                     TLIKYFPQAYMNFYYKSTKGWSIGGVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPT
                     KFGLGVFTIFFDIVFFIQHFYLYRKKPGYDQLD"
     exon            145..223
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            224..308
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            309..412
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            413..544
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            545..644
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            645..764
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            765..935
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1053
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..2010
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcggtatcta atgcgagatt gctgcttttg ggaggtcggt ccaccaagcc tggaaagctg
       61 tcggttcttt gaagtctggg aacatgatga agaactggct gcttattttg acccttttcc
      121 ttctgaagtt catagagaga agtgaatcaa ccgtcggtct ctctgctcct cccactgtga
      181 agctggtaaa tggcagttca accaacgtca gcattaccct tgggcatcca ctaaattcga
      241 ccttggtgat cacttttgaa atcacattta gttcaaaaaa ccttactatt gtggagcttc
      301 ctgatgaggt tatagtgcct cgtggagaga aaaatgcctc tttccaagtg acttctcaaa
      361 atattggaca agtgactgtt tatctgcatg gaaatcattc caaccagacc tgccccagaa
      421 tccagttctt ggtgatacac agcagaattg ttagcgtcat aaaccaggtg attggctgga
      481 tctacttcat ggcctggtcc gtctccttct acccacaggt gatccagaac tggagacgga
      541 aaagtgtcgt tggtctcagc tttgacttct tagccctgaa cttgacaggc ttcgtggcct
      601 acagcgtttt caacatcggt cttttgtggg tgccctacat ccaggaggag tttctcctca
      661 aataccccaa tggtgtgaac cctgtcgaca ttaacgacgc cttcttcagc ttacatgcag
      721 tcgccctcac cctgattgtc atcctgcagt gctgcctgta tgagcgaggc aaccagcgcg
      781 tgtcacggcc ctccattggc ttcctggtac ttgcgtggct cttcatctta gtcaccatga
      841 ttgtggctgc agtcggtgtc accacatggc tgcagttcct cttctgcttc tcctacatca
      901 agctcatcat cacactgatc aagtatttcc cccaggccta catgaacttt tactacaaaa
      961 gcaccaaggg ttggagcatt ggtggtgtgc tcctggattt tacagggggc agctttagcc
     1021 tcctccagat gttcctccag tcttacaata atgaccaatg gacattgatc ttcggagatc
     1081 caaccaagtt cggacttggc gtcttcacca tcttctttga cattgtcttc ttcatccagc
     1141 acttctactt gtacagaaag aaaccagggt acgaccaact ggactaaaat ccagagacac
     1201 ggtataaaca gccagggcct gagccctggt aggaaaggtt gtgtccagca aaggccagag
     1261 aagcagctgg tgcacagggc tggaagtgtg ccgacagaga agcgttctct tcctcaaggg
     1321 ccaaaagcct taggctcagc ctgcctgcct tcacccaggc ccctcgtgag ccacagagga
     1381 ctccctctct ggaacggaca cctgactgtg ctcgagactg aaagtcagat ttcaggcggt
     1441 ctctcccaac ttaaagctcc agccctctgg aggcacccag agttcctgtg ttcctgcgtc
     1501 ttacaacgac atctctctct ttttaaggct tcaggcagca cccacaggtt tcgacagcca
     1561 tcccagccag aactgagcac caagtttgca gctgatggcc ttgccccaaa ccactcgtat
     1621 ttctgggaga agcttgaagg gctaaccttg caactgggag agccaagggt gcttcgttcc
     1681 accgcagggt tcacagggac caggcagcca ggtgctgtgg ccaatggact tgaaggtgct
     1741 gatactggcg gtggagggga gaggactgtg ggattaggct ttgggttccc ttctctaggc
     1801 cacatttctt atcattctat ataactctgc tccagtaact tcagaacaag tggcctaggc
     1861 cagtgcctgg taaagtatat ttctgacccc tgaggcacct tccagattgg tcagaagtgg
     1921 acccatacct gcacacaaaa ataccacagt taactttttt tttttttttt acccccaagg
     1981 actattttga aatggctttt cttttgccct
//
