LOCUS       NM_031251               3010 bp    mRNA    linear   ROD 24-SEP-2024
DEFINITION  Mus musculus cystinosis, nephropathic (Ctns), transcript variant 1,
            mRNA.
ACCESSION   NM_031251
VERSION     NM_031251.4
KEYWORDS    RefSeq; RefSeq Select.
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 3010)
  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 3010)
  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 3010)
  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 3010)
  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 3010)
  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 3010)
  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 3010)
  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 3010)
  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 3010)
  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 3010)
  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
            AL670399.4.
            
            On May 1, 2007 this sequence version replaced NM_031251.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2 and 3 encode the same protein.
            
            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 :: AK079295.1, BC006033.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-102               AL670399.4         222779-222880       c
            103-182             AL670399.4         220499-220578       c
            183-261             AL670399.4         216916-216994       c
            262-346             AL670399.4         215539-215623       c
            347-450             AL670399.4         212550-212653       c
            451-582             AL670399.4         212291-212422       c
            583-682             AL670399.4         211598-211697       c
            683-802             AL670399.4         211383-211502       c
            803-973             AL670399.4         210150-210320       c
            974-1091            AL670399.4         209099-209216       c
            1092-3010           AL670399.4         206994-208912       c
FEATURES             Location/Qualifiers
     source          1..3010
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 45.25 cM"
     gene            1..3010
                     /gene="Ctns"
                     /note="cystinosis, nephropathic"
                     /db_xref="GeneID:83429"
                     /db_xref="MGI:MGI:1932872"
     exon            1..102
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            103..182
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..1225
                     /gene="Ctns"
                     /note="cystinosin"
                     /codon_start=1
                     /product="cystinosin precursor"
                     /protein_id="NP_112541.1"
                     /db_xref="CCDS:CCDS25001.1"
                     /db_xref="GeneID:83429"
                     /db_xref="MGI:MGI:1932872"
                     /translation="MRRNWLLILTLFLLMFIEKYESTVSLTAPPTVKLENGSSTNVDI
                     TLGHPLNSTLVITFEVTFRSKNLTIVELPDEVIVPRGEKNASFQVTSQNIGQVTVFLH
                     GNHSNQTCPRIRFLVIHSRIVSIINQVIGWIYFMAWSVSFYPQVIQNWRRKSVIGLSF
                     DFLALNLTGFVAYSVFNIGLLWVPYIQEEFLLKYPNGVNPVDSNDAFFSLHAVALTLI
                     VILQCCLYERGNQRVSWPSIGFLVLAWLFVLVTMIVAAVGITTWLQFLFCFSYIKLII
                     TLIKYFPQAYMNFYYKSTKGWSIGGVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPT
                     KFGLGVFTIFFDVVFFIQHFYLYRKKPGYDQLN"
     exon            183..261
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            262..346
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            347..450
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            451..582
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            583..682
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            683..802
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            803..973
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1091
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..3010
                     /gene="Ctns"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2519..2524
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ctns"
                     /note="hexamer: ATTAAA"
     polyA_site      2547
                     /gene="Ctns"
                     /note="major polyA site"
     regulatory      2931..2936
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ctns"
                     /note="hexamer: ATTACA"
     polyA_site      2951
                     /gene="Ctns"
ORIGIN      
        1 aaagtcggcg gagctcagag agtccttaca ctcctaagcg gtttctggtg cgagattgtt
       61 gcttttggtg aggtctgtcc accaagcctg ggaagctgtc agttctgaga agtcagagac
      121 catgaggagg aattggctgc ttattttgac cctttttctc ttgatgttca tagagaagta
      181 tgagtcaact gtcagtctca ctgctcctcc caccgtgaag ctggaaaatg gcagttcaac
      241 caacgtcgac atcacccttg ggcatccact aaattcgacc ttggtgatca cttttgaagt
      301 cacgtttcgc tcaaaaaatc tgactattgt ggagcttcct gatgaagtta tagtgcctcg
      361 cggagagaaa aatgcctctt tccaagtgac ttctcaaaat attggacaag tgactgtttt
      421 tctgcatgga aatcattcca accagacctg ccccaggatc cggttcttgg tgatacacag
      481 cagaatcgtt agcatcataa accaggtgat tggctggatc tacttcatgg cgtggtctgt
      541 ctccttttac ccacaagtga tccagaactg gagacggaaa agtgtcattg gtctcagctt
      601 tgatttcttg gccctgaact tgacgggctt cgtggcctac agtgttttca acatcggtct
      661 tttgtgggtg ccctatatcc aggaggagtt tctcctcaaa taccccaatg gtgtgaaccc
      721 cgtcgacagt aatgatgcct tcttcagctt gcatgctgtc gccctcaccc tgattgtcat
      781 cctgcagtgc tgcctgtatg agcgaggcaa ccagcgtgtg tcatggccct ccattggctt
      841 cctggtactc gcatggctct ttgtcctagt caccatgatt gtggctgcag tcggtatcac
      901 cacatggctc cagttcctct tctgcttctc ctacatcaag ctcatcatca cactgatcaa
      961 gtatttccca caggcctata tgaacttcta ctacaaaagc accaagggct ggagcattgg
     1021 cggtgtgctc ctcgatttta cagggggcag ctttagcctc ctccagatgt tcctccagtc
     1081 ttacaataat gaccaatgga cattgatctt cggagaccca accaagttcg gacttggcgt
     1141 cttcaccatc ttctttgatg ttgtcttctt catccagcac ttctacttgt acagaaagaa
     1201 accagggtac gaccagttga attagaatcc agagacccag tgtaaacagc cagggcctgg
     1261 gccctggtag gaaaggttgt atccagcaaa ggccagagaa gcagctggca cacagggctg
     1321 gaacagtatg ccaacaagag cagcattctc ttcctcaaga atcaaaagcc ttaagctcag
     1381 cctgcctgtc ttcatccagg cctctcctga accatggagg actccctctc tggaacagac
     1441 acctgactct gcttgagact gaaagctaga cttgaggcag tctctcccaa ctttaaagct
     1501 ccagccctct gctggaggca cccagccctc ctgcgtcttg atataccatc tctctctctt
     1561 taaggcttca ggcagcacac acaggtccag acagccatcc cagccagaac tgggcatcat
     1621 gtttgcagct gatgaccttg ccccaaagca ccaatatttc tgggagcagc ttgaaaagct
     1681 aaccttgcaa ctgggagagc caagggtgct ttgtcccacc acagtgttca cagagaccaa
     1741 gcagccaggt gctgtggccc atggacttga aggtgctgat gctggtggtg gaggggagag
     1801 aactgtggga tcaagctttg gggtccttgc tctcggggcc actttcctta tgctcattct
     1861 atataacgct gctctagtaa ctgcagaaca agaggcccag gccagtgcct ggtaaagtat
     1921 atttctgatc cctgaggtgc ctgccagatt ggtctgaagt ggacccgtac ctgctgccct
     1981 ccggatcttt gcacacaaag ataccacagt acctttttta tttttatttt acctccaagg
     2041 tatattttaa aatggctttt cttttgccct ctttcctacc tccactttct gagagtcgga
     2101 tggagcacca tcttgagtcc ccagactccc cgtaacctta cacctatgga gcaggtactc
     2161 aggaccagcc tgtgccttag aagcccatca gtcaatcagt aagctgccct ggatgggaag
     2221 ggaggcctcc ttccccagcc ccagactgag actccaactc ctcagctgtt gaggagcctc
     2281 agcgcacagg ggcttacctc ctatgttgct tgtggtccca ccctgatccc acacctcctt
     2341 ccttctcatc ccattattct tcctacgcca ggtagggaag gaaccagggt gtgccttgag
     2401 tttatcaatc tgtttctttt gtttcttata agacgaatat tgagggatcc ttgtatttct
     2461 ttcttttgta tttttttctt gttcggtttc atttttgtgg cgtgtgtgtg tgtccttaat
     2521 taaaaggtgg tttgtttctt atttgtacac tcggaacgtt tactagatga cactgaaggc
     2581 ggttatgttg gccttcagaa ccaagtcctg ggggcttaga ggaccttgct tacctatgtc
     2641 aagaaataca tagggctgtg aagtatgctg atttgaggtg gctgcatgtt gacccacact
     2701 ggatcaggaa aggcctcatg ggttcaagat gcctacccag ccagagccag gtaggtttgt
     2761 ttcatagtgc cttatctgcc agtaccaagg ttccatcagc atgctcaagc tgtgggtgtg
     2821 agcaggggtt ggaaggttca ggtggggtgg ggcatgatgc agggatgacg aagatcttac
     2881 tctgtagact gacaaatctc taacttaatg tcttgtttcc tagagtcaag attacagcct
     2941 ggtcaagccc atagctcgct cactcagtga tttttttttt aaataaaatg tgttattggg
     3001 ctgggcacag
//
