LOCUS       NM_001037160            3045 bp    mRNA    linear   PRI 02-JUN-2024
DEFINITION  Homo sapiens cystin 1 (CYS1), mRNA.
ACCESSION   NM_001037160 XM_927934
VERSION     NM_001037160.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3045)
  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    GeneRIF: Cystin genetic variants cause autosomal recessive
            polycystic kidney disease associated with altered Myc expression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3045)
  AUTHORS   Lee,J.H., Cho,M.H., Hersh,C.P., McDonald,M.L., Crapo,J.D.,
            Bakke,P.S., Gulsvik,A., Comellas,A.P., Wendt,C.H., Lomas,D.A.,
            Kim,V. and Silverman,E.K.
  CONSRTM   COPDGene and ECLIPSE Investigators
  TITLE     Genetic susceptibility for chronic bronchitis in chronic
            obstructive pulmonary disease
  JOURNAL   Respir Res 15 (1), 113 (2014)
   PUBMED   25241909
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3045)
  AUTHORS   Eeles,R.A., Olama,A.A., Benlloch,S., Saunders,E.J.,
            Leongamornlert,D.A., Tymrakiewicz,M., Ghoussaini,M., Luccarini,C.,
            Dennis,J., Jugurnauth-Little,S., Dadaev,T., Neal,D.E., Hamdy,F.C.,
            Donovan,J.L., Muir,K., Giles,G.G., Severi,G., Wiklund,F.,
            Gronberg,H., Haiman,C.A., Schumacher,F., Henderson,B.E., Le
            Marchand,L., Lindstrom,S., Kraft,P., Hunter,D.J., Gapstur,S.,
            Chanock,S.J., Berndt,S.I., Albanes,D., Andriole,G., Schleutker,J.,
            Weischer,M., Canzian,F., Riboli,E., Key,T.J., Travis,R.C.,
            Campa,D., Ingles,S.A., John,E.M., Hayes,R.B., Pharoah,P.D.,
            Pashayan,N., Khaw,K.T., Stanford,J.L., Ostrander,E.A.,
            Signorello,L.B., Thibodeau,S.N., Schaid,D., Maier,C., Vogel,W.,
            Kibel,A.S., Cybulski,C., Lubinski,J., Cannon-Albright,L.,
            Brenner,H., Park,J.Y., Kaneva,R., Batra,J., Spurdle,A.B.,
            Clements,J.A., Teixeira,M.R., Dicks,E., Lee,A., Dunning,A.M.,
            Baynes,C., Conroy,D., Maranian,M.J., Ahmed,S., Govindasami,K.,
            Guy,M., Wilkinson,R.A., Sawyer,E.J., Morgan,A., Dearnaley,D.P.,
            Horwich,A., Huddart,R.A., Khoo,V.S., Parker,C.C., Van As,N.J.,
            Woodhouse,C.J., Thompson,A., Dudderidge,T., Ogden,C., Cooper,C.S.,
            Lophatananon,A., Cox,A., Southey,M.C., Hopper,J.L., English,D.R.,
            Aly,M., Adolfsson,J., Xu,J., Zheng,S.L., Yeager,M., Kaaks,R.,
            Diver,W.R., Gaudet,M.M., Stern,M.C., Corral,R., Joshi,A.D.,
            Shahabi,A., Wahlfors,T., Tammela,T.L., Auvinen,A., Virtamo,J.,
            Klarskov,P., Nordestgaard,B.G., Roder,M.A., Nielsen,S.F.,
            Bojesen,S.E., Siddiq,A., Fitzgerald,L.M., Kolb,S., Kwon,E.M.,
            Karyadi,D.M., Blot,W.J., Zheng,W., Cai,Q., McDonnell,S.K.,
            Rinckleb,A.E., Drake,B., Colditz,G., Wokolorczyk,D.,
            Stephenson,R.A., Teerlink,C., Muller,H., Rothenbacher,D.,
            Sellers,T.A., Lin,H.Y., Slavov,C., Mitev,V., Lose,F.,
            Srinivasan,S., Maia,S., Paulo,P., Lange,E., Cooney,K.A.,
            Antoniou,A.C., Vincent,D., Bacot,F., Tessier,D.C., Kote-Jarai,Z.
            and Easton,D.F.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391 (2013)
   PUBMED   23535732
REFERENCE   4  (bases 1 to 3045)
  AUTHORS   Wright,K.J., Baye,L.M., Olivier-Mason,A., Mukhopadhyay,S., Sang,L.,
            Kwong,M., Wang,W., Pretorius,P.R., Sheffield,V.C., Sengupta,P.,
            Slusarski,D.C. and Jackson,P.K.
  TITLE     An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the
            primary cilium
  JOURNAL   Genes Dev 25 (22), 2347-2360 (2011)
   PUBMED   22085962
REFERENCE   5  (bases 1 to 3045)
  AUTHORS   Fliegauf,M., Frohlich,C., Horvath,J., Olbrich,H., Hildebrandt,F.
            and Omran,H.
  TITLE     Identification of the human CYS1 gene and candidate gene analysis
            in Boichis disease
  JOURNAL   Pediatr Nephrol 18 (6), 498-505 (2003)
   PUBMED   12733055
  REMARK    GeneRIF: genomic region comprises three coding exons, which span 22
            kb and the transcript harbors an open reading frame of 477
            nucleotides encoding a protein with 158 amino acid residues, which
            is called cystin
REFERENCE   6  (bases 1 to 3045)
  AUTHORS   Hou,X., Mrug,M., Yoder,B.K., Lefkowitz,E.J., Kremmidiotis,G.,
            D'Eustachio,P., Beier,D.R. and Guay-Woodford,L.M.
  TITLE     Cystin, a novel cilia-associated protein, is disrupted in the cpk
            mouse model of polycystic kidney disease
  JOURNAL   J Clin Invest 109 (4), 533-540 (2002)
   PUBMED   11854326
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104794.4.
            
            On Apr 30, 2021 this sequence version replaced NM_001037160.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK091299.1, AF544983.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142586, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381813.5/ ENSP00000371234.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-506               AC104794.4         61856-62361         c
            507-559             AC104794.4         47854-47906         c
            560-3045            AC104794.4         38423-40908         c
FEATURES             Location/Qualifiers
     source          1..3045
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p25.1"
     gene            1..3045
                     /gene="CYS1"
                     /note="cystin 1"
                     /db_xref="GeneID:192668"
                     /db_xref="HGNC:HGNC:18525"
                     /db_xref="MIM:618713"
     exon            1..506
                     /gene="CYS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..665
                     /gene="CYS1"
                     /note="cilia-associated protein"
                     /codon_start=1
                     /product="cystin-1"
                     /protein_id="NP_001032237.1"
                     /db_xref="CCDS:CCDS33145.1"
                     /db_xref="GeneID:192668"
                     /db_xref="HGNC:HGNC:18525"
                     /db_xref="MIM:618713"
                     /translation="MGSGSSRSSRTLRRRRSPESLPAGPGAAALEGGTRRRVPVAAAE
                     VPGAAAEEAPGRDPSPVAPPDGRDETLRLLDELLAESAAWGPPEPAPRRPARLRPTAV
                     AGSAVCAEQSTEGHPGSGNVSEAPGSGRKKPERPAAISYDHSEEGLMASIEREYCR"
     exon            507..559
                     /gene="CYS1"
                     /inference="alignment:Splign:2.1.0"
     exon            560..3045
                     /gene="CYS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2655..2660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYS1"
                     /note="hexamer: AATAAA"
     polyA_site      2679
                     /gene="CYS1"
                     /note="major polyA site"
     regulatory      2704..2709
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYS1"
                     /note="hexamer: AATAAA"
     regulatory      2717..2722
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYS1"
                     /note="hexamer: AATAAA"
     polyA_site      2722
                     /gene="CYS1"
     polyA_site      2735
                     /gene="CYS1"
                     /note="major polyA site"
     polyA_site      3045
                     /gene="CYS1"
                     /note="major polyA site"
ORIGIN      
        1 gctcgcaccc ccgtcctccg gccgcgaccc ccgcccggga accctagccc ctggccgcgg
       61 tcgcttcccg gacctcgccc cgcgcctccc cctgcagccc gccccggccg caccccctag
      121 cgtccccgcc cccggccgcg ccccctcatg ggggccccct cggcggtccg ggaggcggcg
      181 ggcgcgccat gggcagcggc agcagccgga gcagccggac tctgaggcgg cggcgcagcc
      241 ccgagagcct ccccgcgggg cccggagcgg cagccctgga gggcgggacc cgccggcggg
      301 tgccggtggc ggcggccgag gtcccggggg cagccgcgga ggaggcgccc ggccgcgacc
      361 ccagccccgt ggcgcccccc gacggcaggg acgagacgct gcgcctgctg gacgagctgc
      421 tggccgagtc ggcggcctgg ggccccccgg agcccgcccc gcgccgccca gcccggctcc
      481 gacccaccgc ggtcgcgggg agcgcggtgt gcgcagagca gagcacagag ggccacccgg
      541 ggagcggcaa tgtctctgaa gccccaggca gcggtcgcaa gaagcccgag aggccggcag
      601 ccatctccta cgaccactcg gaagaggggc tgatggcgag catcgagcgg gagtactgcc
      661 gctgaggaca gcatgctcca cccccgccag gcctcggagg cacctgctgg ctggggcacc
      721 ctctgcttgc acagagctct agcaggagct gaaccacctc caaaacgcag tcactcccgg
      781 atattcaaag ctgccctttc aaatccactt tcagaccgcg ctgacctggg ccagccactg
      841 gcggtcatgg ttgctggtgg gggcgattag ctgtgtagac ccacaggtgc gtgggcctgg
      901 gccgccggcg cctcctcccc aacgcgggga gcctgcccag ttcttctgga gcctgaaatg
      961 cgtgcccctc ttggttgccc gctctccaca gtggggaggg ctcacgagga ctaggtgaca
     1021 caagcgagcc cctcctggca tccgcgccac aacacttccg gaaggttctg ctgtggaagg
     1081 tgcacccgcg ctgctccctc agtctcgggc ccatctctcc aggggtggcc gggtcagctt
     1141 agtgcttctc aactttaact ccctaatgag cagcctgggg gtgctgttga cttgcagggc
     1201 ctgaggttct gtacgtctaa ccagctccca gcccaggccc gagctccgaa gccccaactg
     1261 cactttgagg agcgagaacc ccagctctga tctgccttgc agtgggaggt agagctcgtc
     1321 actgcctctc tgggcctcag tttccctctc tggaaaatca gctctggcag ctcttggagg
     1381 ccctccccag ctctgacaat ctggaactgc tgccactgct ggtcccctgc cccaggcaca
     1441 gcagtgcctt ccctgcgggg agccagcgcc caggtccaac cgggagaggg tctgcctgat
     1501 actggctttc cagttctccc tctcacaggc agcctggcca gtgcctgcgg ggcttttaaa
     1561 ttctcttcct gcctgggtgg aaggtgggaa accacagcag tgaggcagga agagccttgg
     1621 aatgttcctg gttgacagat gggaaaactg acctgcccag gacgccctgg gaacaggggg
     1681 cggagctccg gctagagggg actcctgtgt gggcgggcag gtctggagcc tgggcccagg
     1741 tgtggcctgc tgggggacag ctccggggga gagctgtggg gagaacagcg gtctagggag
     1801 gcaggaggca ggcggcaggc tcctccccag cagcctgcag ggcatcagga cagaggggga
     1861 aggaggagac agaagggaaa gaaggagata gagggggaag gaggaaacag cgcggcttct
     1921 gctgaagcca gtacaagcct ggttatctgg cttgacccgc ccacacggag gcctccccag
     1981 cgttttcttt ttcccgagaa gagctccagc tcgcaggtcc ttagaacaca gcagagcagg
     2041 agcatctcag gaaccaacgg ccagctcctt ggcgctgtcc ccagccccac aggcctgctg
     2101 cggccatccg caaacgggca tttccttgaa cttttgagag tgcctttgac cagctgttcg
     2161 cagctgggaa actccaactt ttgaagtcag agcttggagc ggcccccgca agggcgtggc
     2221 tcaaaccctc cccagagctg ggagccattg cttatgcaag cccgtttctt ttgatgtaaa
     2281 gatggaagtc gttactatat tttaataatg caaatacatc ttttaaaata agttaacatt
     2341 tcttaccacc agatggatca ggctttgaat ttaaacatgt aaatgtttgt aattttatgt
     2401 cattttgtta aaatgggacg ctttcaattg gtttccaaga aagatgatac ctctgcattt
     2461 tctggtggaa aaggtgtaat acccttaatg agatcaaagt gttaggggaa aaaaattcca
     2521 aaagtagtta caagctatat caatgtcaaa gtaaatgcac ttcatcaaag ctaagaagtc
     2581 acaggaattg ttctcaggtt tttaaaaaaa tttttcctga attcaggaag tgtcttctga
     2641 atagcagcta gccaaataaa gcggtgtgtg tgtactgcag ctgtaggtga acttaaaaat
     2701 aataataaaa agaacaaata aagcagtgtg taccagccgc tgagccggcc ctgtctctgt
     2761 cctgtgagac ggaggggctg tgcctggaag tagaggggtg ggcgttgctg cagcctgcag
     2821 cccggcccga gtctgtccca gtgcctcctg tgtgcctggc acctcctcag gcatcttcct
     2881 ggctgcccca tgttgcagct gagcctcagc gtcctgctag aactgcgtgt gggatttgct
     2941 cactgccagg atgggactgt ggctggaatg gaggcagaaa gaaacacatc tcaaaggcaa
     3001 aaatgacgca cgttgttgtc tggaaaaatc ttaagtgacc acaaa
//
