LOCUS       NM_001161807            1807 bp    mRNA    linear   ROD 05-JUN-2024
DEFINITION  Mus musculus cystin 1 (Cys1), transcript variant 3, mRNA.
ACCESSION   NM_001161807
VERSION     NM_001161807.1
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 1807)
  AUTHORS   Harafuji,N., Yang,C., Wu,M., Thiruvengadam,G., Gordish-Dressman,H.,
            Thompson,R.G., Bell,P.D., Rosenberg,A.Z., Dafinger,C., Liebau,M.C.,
            Bebok,Z., Caldovic,L. and Guay-Woodford,L.M.
  TITLE     Differential regulation of MYC expression by PKHD1/Pkhd1 in human
            and mouse kidneys: phenotypic implications for recessive polycystic
            kidney disease
  JOURNAL   Front Cell Dev Biol 11, 1270980 (2023)
   PUBMED   38125876
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1807)
  AUTHORS   Zhang,Y.J., Yang,C., Wang,W., Harafuji,N., Stasiak,P., Bell,P.D.,
            Caldovic,L., Sztul,E., Guay-Woodford,L.M. and Bebok,Z.
  TITLE     Cystin is required for maintaining fibrocystin (FPC) levels and
            safeguarding proteome integrity in mouse renal epithelial cells: A
            mechanistic connection between the kidney defects in cpk mice and
            human ARPKD
  JOURNAL   FASEB J 37 (7), e23008 (2023)
   PUBMED   37318790
REFERENCE   3  (bases 1 to 1807)
  AUTHORS   Yang,C., Harafuji,N., O'Connor,A.K., Kesterson,R.A., Watts,J.A.,
            Majmundar,A.J., Braun,D.A., Lek,M., Laricchia,K.M., Fathy,H.M.,
            Mane,S., Shril,S., Hildebrandt,F. and Guay-Woodford,L.M.
  TITLE     Cystin genetic variants cause autosomal recessive polycystic kidney
            disease associated with altered Myc expression
  JOURNAL   Sci Rep 11 (1), 18274 (2021)
   PUBMED   34521872
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1807)
  AUTHORS   Niborski,L.L., Paces-Fessy,M., Ricci,P., Bourgeois,A.,
            Magalhaes,P., Kuzma-Kuzniarska,M., Lesaulnier,C., Reczko,M.,
            Declercq,E., Zurbig,P., Doucet,A., Umbhauer,M. and Cereghini,S.
  TITLE     Hnf1b haploinsufficiency differentially affects developmental
            target genes in a new renal cysts and diabetes mouse model
  JOURNAL   Dis Model Mech 14 (5) (2021)
   PUBMED   33737325
REFERENCE   5  (bases 1 to 1807)
  AUTHORS   Zimmerman,K.A., Song,C.J., Li,Z., Lever,J.M., Crossman,D.K.,
            Rains,A., Aloria,E.J., Gonzalez,N.M., Bassler,J.R., Zhou,J.,
            Crowley,M.R., Revell,D.Z., Yan,Z., Shan,D., Benveniste,E.N.,
            George,J.F., Mrug,M. and Yoder,B.K.
  TITLE     Tissue-Resident Macrophages Promote Renal Cystic Disease
  JOURNAL   J Am Soc Nephrol 30 (10), 1841-1856 (2019)
   PUBMED   31337691
REFERENCE   6  (bases 1 to 1807)
  AUTHORS   Rocco,M.V., Neilson,E.G., Hoyer,J.R. and Ziyadeh,F.N.
  TITLE     Attenuated expression of epithelial cell adhesion molecules in
            murine polycystic kidney disease
  JOURNAL   Am J Physiol 262 (4 Pt 2), F679-F686 (1992)
   PUBMED   1566881
REFERENCE   7  (bases 1 to 1807)
  AUTHORS   Harding,M.A., Gattone,V.H. 2nd, Grantham,J.J. and Calvet,J.P.
  TITLE     Localization of overexpressed c-myc mRNA in polycystic kidneys of
            the cpk mouse
  JOURNAL   Kidney Int 41 (2), 317-325 (1992)
   PUBMED   1552705
REFERENCE   8  (bases 1 to 1807)
  AUTHORS   Nagao,S. and Takahashi,H.
  TITLE     Linkage analysis of two murine polycystic kidney disease genes, pcy
            and cpk
  JOURNAL   Jikken Dobutsu 40 (4), 557-560 (1991)
   PUBMED   1748176
REFERENCE   9  (bases 1 to 1807)
  AUTHORS   Harding,M.A., Chadwick,L.J., Gattone,V.H. 2nd and Calvet,J.P.
  TITLE     The SGP-2 gene is developmentally regulated in the mouse kidney and
            abnormally expressed in collecting duct cysts in polycystic kidney
            disease
  JOURNAL   Dev Biol 146 (2), 483-490 (1991)
   PUBMED   1864465
REFERENCE   10 (bases 1 to 1807)
  AUTHORS   Ribacchi,R.
  TITLE     [Congenital polycystic kidney in PM/Se mice]
  JOURNAL   Lav Ist Anat Istol Patol Univ Studi Perugia 35 (3), 81-88 (1975)
   PUBMED   1232513
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC140262.4.
            
            Transcript Variant: This variant (3) uses an alternate splice
            pattern in the 3' UTR, and encodes the same protein, as compared to
            variant 1.
            
            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 :: BC139298.1, SRR7345562.4639553.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164137 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            NMD candidate :: translation inferred from conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1166              AC140262.4         103784-104949       c
            1167-1219           AC140262.4         92852-92904         c
            1220-1362           AC140262.4         90244-90386         c
            1363-1423           AC140262.4         89921-89981         c
            1424-1807           AC140262.4         88992-89375         c
FEATURES             Location/Qualifiers
     source          1..1807
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 8.49 cM"
     gene            1..1807
                     /gene="Cys1"
                     /gene_synonym="2900006B19Rik; Ccap; ck; cpk"
                     /note="cystin 1"
                     /db_xref="GeneID:12879"
                     /db_xref="MGI:MGI:2177632"
     exon            1..1166
                     /gene="Cys1"
                     /gene_synonym="2900006B19Rik; Ccap; ck; cpk"
                     /inference="alignment:Splign:2.1.0"
     CDS             888..1325
                     /gene="Cys1"
                     /gene_synonym="2900006B19Rik; Ccap; ck; cpk"
                     /note="cystin cilia associated protein; cilia-associated
                     protein; congenital polycystic kidneys"
                     /codon_start=1
                     /product="cystin-1"
                     /protein_id="NP_001155279.1"
                     /db_xref="CCDS:CCDS36422.1"
                     /db_xref="GeneID:12879"
                     /db_xref="MGI:MGI:2177632"
                     /translation="MGSGSSRSGRIPRRRRSPDRRQTGPGETASEGGTADQARTAAGQ
                     EESGRDPRPATPSGGREETLRLLDQLLAESEAWGPQELTPRGPARLAPAVSPEKKVKG
                     NPEDSCASEAPGNSPKRPEGQSAISYDYSEEELMASIEREYCR"
     exon            1167..1219
                     /gene="Cys1"
                     /gene_synonym="2900006B19Rik; Ccap; ck; cpk"
                     /inference="alignment:Splign:2.1.0"
     exon            1220..1362
                     /gene="Cys1"
                     /gene_synonym="2900006B19Rik; Ccap; ck; cpk"
                     /inference="alignment:Splign:2.1.0"
     exon            1363..1423
                     /gene="Cys1"
                     /gene_synonym="2900006B19Rik; Ccap; ck; cpk"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..1807
                     /gene="Cys1"
                     /gene_synonym="2900006B19Rik; Ccap; ck; cpk"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 attctctctc tctcacactc acacacacat ctccggctct ccttttctgt ctccctcctc
       61 ctctcacctt gtctctgctc tctcagacct gtacctgaag ccccaacgac ctcctttccg
      121 acagtgctag tctccaaccc cgactcctga tcttcccctt ccctggcatc cggctctgct
      181 tcaagcattc ttctgtcttt caccccccag ctcttttcag ccggtgcctt gctccccttg
      241 ctcccagcat gactcccacc cgtgctccat gggcctcccc caaacttctc caagatgatt
      301 ctttcgccct gacttccctt ccaccagtct atccactctg caccctttaa ggctcccttc
      361 catacaatac taaccctgtt gcacctccct gcagtgccac cctaccccaa acttcccaca
      421 cccccgccgc accctgagag tctcccaggg agtcactccc accctctctt catcccgctt
      481 actctccttc ccccccagga tcaccttccc cattttctcc ctgtctcacg gcgctccccc
      541 tgccccaccc cgttcttcat ctcctccaag tctttcccca tcctcccatt ctccccctga
      601 ggagcgcccc ctctccccta gcagcctcta cttcctccag cctcccagat catccttgct
      661 tctctgtctc ttccatcccc gcgccccccg tgactcctcc tgctaccccc gtttctcata
      721 gctcccatcc cccgtgactc tcctccctcc ctatctctcc atcgcaccct ccgccgctca
      781 ctcctccaga atcccccttg ctgttccctc gccccatctg gcccgccgcg ctcccgcccc
      841 agtcccgccc ggctcccagg ctgcgcgctc caggctgggt gcgcgccatg ggcagcggca
      901 gcagccggag cggccggatc ccgaggcggc gacgcagccc tgacaggcgt cagacaggcc
      961 cgggagagac agcctcggag ggcggcacgg ctgaccaggc ccggacggcc gcggggcagg
     1021 aggagagcgg ccgcgacccc cgacccgcga cgccctccgg tggccgggag gagaccctac
     1081 gcctgctgga tcagttgctg gccgagtcgg aggcctgggg gccccaggag ctgaccccac
     1141 gaggccccgc ccggctcgca cccgcggtgt ccccagagaa gaaggttaaa ggcaaccctg
     1201 aagacagctg tgcctctgaa gccccgggga acagccccaa gagacccgag gggcagtcgg
     1261 ccatctccta tgactactca gaagaggagc tcatggcgag cattgagcgg gagtactgcc
     1321 gctgagctgg acaagcagcc ctgggcatca ctggccttgc aggtggggaa gggtcaaccc
     1381 ctcttggcat ctgtgccaca ggcttctaga agtttccacc aagacagtgg ccttcatcag
     1441 catcttccct ctcctgagaa cagctgccag tccatgaatc ctcagaacac aacctagagt
     1501 atctcaggaa ccaaggaaga atggtcactg agaccgtccc cacaccctcg gtcctttgct
     1561 gtcacctgca aatgattcca tgaactcgtg acttgacaag agtacctttg agtacttggc
     1621 tgagagactg caacagttgg agcccagagc catggagtgt ctaccgaatg gctgagggtc
     1681 gggtcaaaac ctcccagagc tagcaactgt atcttactgg agcccaaagg actgcttttg
     1741 ctatgaaaat gaagctgttt ctattttgat aacacaaata ttaaaaatgc ttattttaaa
     1801 aaaggtt
//
