LOCUS       NM_001357892            2626 bp    mRNA    linear   ROD 24-SEP-2024
DEFINITION  Mus musculus cystinosis, nephropathic (Ctns), transcript variant 3,
            mRNA.
ACCESSION   NM_001357892
VERSION     NM_001357892.1
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2626)
  AUTHORS   De Leo,E., Taranta,A., Raso,R., Pezzullo,M., Piccione,M.,
            Matteo,V., Vitale,A., Bellomo,F., Goffredo,B.M., Diomedi
            Camassei,F., Prencipe,G., Rega,L.R. and Emma,F.
  TITLE     Long-term effects of luteolin in a mouse model of nephropathic
            cystinosis
  JOURNAL   Biomed Pharmacother 178, 117236 (2024)
   PUBMED   39096619
REFERENCE   2  (bases 1 to 2626)
  AUTHORS   Berquez,M., Chen,Z., Festa,B.P., Krohn,P., Keller,S.A., Parolo,S.,
            Korzinkin,M., Gaponova,A., Laczko,E., Domenici,E., Devuyst,O. and
            Luciani,A.
  TITLE     Lysosomal cystine export regulates mTORC1 signaling to guide kidney
            epithelial cell fate specialization
  JOURNAL   Nat Commun 14 (1), 3994 (2023)
   PUBMED   37452023
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2626)
  AUTHORS   Goodman,S., Khan,M., Sharma,J., Li,Z., Cano,J., Castellanos,C.,
            Estrada,M.V., Gertsman,I. and Cherqui,S.
  TITLE     Deficiency of the sedoheptulose kinase (Shpk) does not alter the
            ability of hematopoietic stem cells to rescue cystinosis in the
            mouse model
  JOURNAL   Mol Genet Metab 134 (4), 309-316 (2021)
   PUBMED   34823997
REFERENCE   4  (bases 1 to 2626)
  AUTHORS   Janssens,V., Gaide Chevronnay,H.P., Marie,S., Vincent,M.F., Van Der
            Smissen,P., Nevo,N., Vainio,S., Nielsen,R., Christensen,E.I.,
            Jouret,F., Antignac,C., Pierreux,C.E. and Courtoy,P.J.
  TITLE     Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation
            Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis
            Progression
  JOURNAL   J Am Soc Nephrol 30 (11), 2177-2190 (2019)
   PUBMED   31548351
REFERENCE   5  (bases 1 to 2626)
  AUTHORS   Lobry,T., Miller,R., Nevo,N., Rocca,C.J., Zhang,J., Catz,S.D.,
            Moore,F., Thomas,L., Pouly,D., Bailleux,A., Guerrera,I.C.,
            Gubler,M.C., Cheung,W.W., Mak,R.H., Montier,T., Antignac,C. and
            Cherqui,S.
  TITLE     Interaction between galectin-3 and cystinosin uncovers a pathogenic
            role of inflammation in kidney involvement of cystinosis
  JOURNAL   Kidney Int 96 (2), 350-362 (2019)
   PUBMED   30928021
  REMARK    GeneRIF: Interaction between galectin-3 and cystinosin uncovers a
            pathogenic role of inflammation in kidney involvement of
            cystinosis.
REFERENCE   6  (bases 1 to 2626)
  AUTHORS   Maurice,T., Hippert,C., Serratrice,N., Dubois,G., Jacquet,C.,
            Antignac,C., Kremer,E.J. and Kalatzis,V.
  TITLE     Cystine accumulation in the CNS results in severe age-related
            memory deficits
  JOURNAL   Neurobiol Aging 30 (6), 987-1000 (2009)
   PUBMED   17977621
REFERENCE   7  (bases 1 to 2626)
  AUTHORS   Gailly,P., Jouret,F., Martin,D., Debaix,H., Parreira,K.S.,
            Nishita,T., Blanchard,A., Antignac,C., Willnow,T.E., Courtoy,P.J.,
            Scheinman,S.J., Christensen,E.I. and Devuyst,O.
  TITLE     A novel renal carbonic anhydrase type III plays a role in proximal
            tubule dysfunction
  JOURNAL   Kidney Int 74 (1), 52-61 (2008)
   PUBMED   18322545
REFERENCE   8  (bases 1 to 2626)
  AUTHORS   Kalatzis,V., Serratrice,N., Hippert,C., Payet,O., Arndt,C.,
            Cazevieille,C., Maurice,T., Hamel,C., Malecaze,F., Antignac,C.,
            Muller,A. and Kremer,E.J.
  TITLE     The ocular anomalies in a cystinosis animal model mimic disease
            pathogenesis
  JOURNAL   Pediatr Res 62 (2), 156-162 (2007)
   PUBMED   17597652
  REMARK    GeneRIF: Temporospatial pattern of cystine accumulation in Ctns-/-
            mice parallels that of patients and validates the mice as a model
            for the ocular anomalies of cystinosis.
            Erratum:[Pediatr Res. 2007 Nov;62(5):558]
REFERENCE   9  (bases 1 to 2626)
  AUTHORS   Cherqui,S., Sevin,C., Hamard,G., Kalatzis,V., Sich,M.,
            Pequignot,M.O., Gogat,K., Abitbol,M., Broyer,M., Gubler,M.C. and
            Antignac,C.
  TITLE     Intralysosomal cystine accumulation in mice lacking cystinosin, the
            protein defective in cystinosis
  JOURNAL   Mol Cell Biol 22 (21), 7622-7632 (2002)
   PUBMED   12370309
  REMARK    GeneRIF: CTNS has a role in proper functioning of the retina and
            bones, and in mouse behavior
REFERENCE   10 (bases 1 to 2626)
  AUTHORS   Cherqui,S., Kalatzis,V., Forestier,L., Poras,I. and Antignac,C.
  TITLE     Identification and characterisation of the murine homologue of the
            gene responsible for cystinosis, Ctns
  JOURNAL   BMC Genomics 1, 2 (2000)
   PUBMED   11121245
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK054467.1, AK137143.1 and AW049661.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1, 2 and 3 encode the same protein.
            
            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 :: AK137143.1, SRR17253012.9529807.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                AK054467.1         2-24
            24-2608             AK137143.1         4-2588
            2609-2626           AW049661.1         1-18                c
FEATURES             Location/Qualifiers
     source          1..2626
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 45.25 cM"
     gene            1..2626
                     /gene="Ctns"
                     /note="cystinosis, nephropathic"
                     /db_xref="GeneID:83429"
                     /db_xref="MGI:MGI:1932872"
     exon            1..165
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            166..245
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     CDS             185..1288
                     /gene="Ctns"
                     /note="cystinosin"
                     /codon_start=1
                     /product="cystinosin precursor"
                     /protein_id="NP_001344821.1"
                     /db_xref="CCDS:CCDS25001.1"
                     /db_xref="GeneID:83429"
                     /db_xref="MGI:MGI:1932872"
                     /translation="MRRNWLLILTLFLLMFIEKYESTVSLTAPPTVKLENGSSTNVDI
                     TLGHPLNSTLVITFEVTFRSKNLTIVELPDEVIVPRGEKNASFQVTSQNIGQVTVFLH
                     GNHSNQTCPRIRFLVIHSRIVSIINQVIGWIYFMAWSVSFYPQVIQNWRRKSVIGLSF
                     DFLALNLTGFVAYSVFNIGLLWVPYIQEEFLLKYPNGVNPVDSNDAFFSLHAVALTLI
                     VILQCCLYERGNQRVSWPSIGFLVLAWLFVLVTMIVAAVGITTWLQFLFCFSYIKLII
                     TLIKYFPQAYMNFYYKSTKGWSIGGVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPT
                     KFGLGVFTIFFDVVFFIQHFYLYRKKPGYDQLN"
     exon            246..324
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            325..409
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            410..513
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            514..645
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            646..745
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            746..865
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            866..1036
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1154
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            1155..2610
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2582..2587
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ctns"
                     /note="hexamer: ATTAAA"
     polyA_site      2610
                     /gene="Ctns"
                     /note="major polyA site"
ORIGIN      
        1 gacagctggc ccctctttca cacaaagtcg gcggagctca gagagtcctt acactcctaa
       61 gcggtttctg gtgcgagatt gttgcttttg gtgaggtctg tccaccaagc ctgggaagct
      121 gtcaggtgag aaccatcgcg accgggacag ctaccccctt ttctgttctg agaagtcaga
      181 gaccatgagg aggaattggc tgcttatttt gacccttttt ctcttgatgt tcatagagaa
      241 gtatgagtca actgtcagtc tcactgctcc tcccaccgtg aagctggaaa atggcagttc
      301 aaccaacgtc gacatcaccc ttgggcatcc actaaattcg accttggtga tcacttttga
      361 agtcacgttt cgctcaaaaa atctgactat tgtggagctt cctgatgaag ttatagtgcc
      421 tcgcggagag aaaaatgcct ctttccaagt gacttctcaa aatattggac aagtgactgt
      481 ttttctgcat ggaaatcatt ccaaccagac ctgccccagg atccggttct tggtgataca
      541 cagcagaatc gttagcatca taaaccaggt gattggctgg atctacttca tggcgtggtc
      601 tgtctccttt tacccacaag tgatccagaa ctggagacgg aaaagtgtca ttggtctcag
      661 ctttgatttc ttggccctga acttgacggg cttcgtggcc tacagtgttt tcaacatcgg
      721 tcttttgtgg gtgccctata tccaggagga gtttctcctc aaatacccca atggtgtgaa
      781 ccccgtcgac agtaatgatg ccttcttcag cttgcatgct gtcgccctca ccctgattgt
      841 catcctgcag tgctgcctgt atgagcgagg caaccagcgt gtgtcatggc cctccattgg
      901 cttcctggta ctcgcatggc tctttgtcct agtcaccatg attgtggctg cagtcggtat
      961 caccacatgg ctccagttcc tcttctgctt ctcctacatc aagctcatca tcacactgat
     1021 caagtatttc ccacaggcct atatgaactt ctactacaaa agcaccaagg gctggagcat
     1081 tggcggtgtg ctcctcgatt ttacaggggg cagctttagc ctcctccaga tgttcctcca
     1141 gtcttacaat aatgaccaat ggacattgat cttcggagac ccaaccaagt tcggacttgg
     1201 cgtcttcacc atcttctttg atgttgtctt cttcatccag cacttctact tgtacagaaa
     1261 gaaaccaggg tacgaccagt tgaattagaa tccagagacc cagtgtaaac agccagggcc
     1321 tgggccctgg taggaaaggt tgtatccagc aaaggccaga gaagcagctg gcacacaggg
     1381 ctggaacagt atgccaacaa gagcagcatt ctcttcctca agaatcaaaa gccttaagct
     1441 cagcctgcct gtcttcatcc aggcctctcc tgaaccatgg aggactccct ctctggaaca
     1501 gacacctgac tctgcttgag actgaaagct agacttgagg cagtctctcc caactttaaa
     1561 gctccagccc tctgctggag gcacccagcc ctcctgcgtc ttgatatacc atctctctct
     1621 ctttaaggct tcaggcagca cacacaggtc cagacagcca tcccagccag aactgggcat
     1681 catgtttgca gctgatgacc ttgccccaaa gcaccaatat ttctgggagc agcttgaaaa
     1741 gctaaccttg caactgggag agccaagggt gctttgtccc accacagtgt tcacagagac
     1801 caagcagcca ggtgctgtgg cccatggact tgaaggtgct gatgctggtg gtggagggga
     1861 gagaactgtg ggatcaagct ttggggtcct tgctctcggg gccactttcc ttatgctcat
     1921 tctatataac gctgctctag taactgcaga acaagaggcc caggccagtg cctggtaaag
     1981 tatatttctg atccctgagg tgcctgccag attggtctga agtggacccg tacctgctgc
     2041 cctccggatc tttgcacaca aagataccac agtacctttt ttatttttat tttacctcca
     2101 aggtatattt taaaatggct tttcttttgc cctctttcct acctccactt tctgagagtc
     2161 ggatggagca ccatcttgag tccccagact ccccgtaacc ttacacctat ggagcaggta
     2221 ctcaggacca gcctgtgcct tagaagccca tcagtcaatc agtaagctgc cctggatggg
     2281 aagggaggcc tccttcccca gccccagact gagactccaa ctcctcagct gttgaggagc
     2341 ctcagcgcac aggggcttac ctcctatgtt gcttgtggtc ccaccctgat cccacacctc
     2401 cttccttctc atcccattat tcttcctacg ccaggtaggg aaggaaccag ggtgtgcctt
     2461 gagtttatca atctgtttct tttgtttctt ataagacgaa tattgaggga tccttgtatt
     2521 tctttctttt gtattttttt cttgttcggt ttcatttttg tggcgtgtgt gtgtgtcctt
     2581 aattaaaagg tggtttgttt cttatttgta aaaaaaaaaa aaaaaa
//
