LOCUS       NM_138686               1838 bp    mRNA    linear   ROD 05-JUN-2024
DEFINITION  Mus musculus cystin 1 (Cys1), transcript variant 1, mRNA.
ACCESSION   NM_138686
VERSION     NM_138686.3
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 1838)
  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 1838)
  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 1838)
  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 1838)
  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 1838)
  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 1838)
  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 1838)
  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 1838)
  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 1838)
  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 1838)
  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
            AF390548.1 and BF658482.1.
            
            On Aug 2, 2006 this sequence version replaced NM_138686.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 2 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 :: AF390548.1, BY712458.1 [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
            1-180               AF390548.1         19-198
            181-287             BF658482.1         98-204
            288-1838            AF390548.1         306-1856
FEATURES             Location/Qualifiers
     source          1..1838
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 8.49 cM"
     gene            1..1838
                     /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_619627.3"
                     /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..1838
                     /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 aaggtctcgg tttatgttgc
     1441 atccccggac caagacagtg gccttcatca gcatcttccc tctcctgaga acagctgcca
     1501 gtccatgaat cctcagaaca caacctagag tatctcagga accaaggaag aatggtcact
     1561 gagaccgtcc ccacaccctc ggtcctttgc tgtcacctgc aaatgattcc atgaactcgt
     1621 gacttgacaa gagtaccttt gagtacttgg ctgagagact gcaacagttg gagcccagag
     1681 ccatggagtg tctaccgaat ggctgagggt cgggtcaaaa cctcccagag ctagcaactg
     1741 tatcttactg gagcccaaag gactgctttt gctatgaaaa tgaagctgtt tctattttga
     1801 taacacaaat attaaaaatg cttattttaa aaaaggtt
//
