LOCUS       NM_001034917            2480 bp    mRNA    linear   ROD 03-APR-2024
DEFINITION  Rattus norvegicus MKS transition zone complex subunit 1 (Mks1),
            mRNA.
ACCESSION   NM_001034917 XM_220833
VERSION     NM_001034917.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2480)
  AUTHORS   Burnicka-Turek,O., Steimle,J.D., Huang,W., Felker,L., Kamp,A.,
            Kweon,J., Peterson,M., Reeves,R.H., Maslen,C.L., Gruber,P.J.,
            Yang,X.H., Shendure,J. and Moskowitz,I.P.
  TITLE     Cilia gene mutations cause atrioventricular septal defects by
            multiple mechanisms
  JOURNAL   Hum Mol Genet 25 (14), 3011-3028 (2016)
   PUBMED   27340223
REFERENCE   2  (bases 1 to 2480)
  AUTHORS   Cui,C., Chatterjee,B., Lozito,T.P., Zhang,Z., Francis,R.J.,
            Yagi,H., Swanhart,L.M., Sanker,S., Francis,D., Yu,Q., San
            Agustin,J.T., Puligilla,C., Chatterjee,T., Tansey,T., Liu,X.,
            Kelley,M.W., Spiliotis,E.T., Kwiatkowski,A.V., Tuan,R.,
            Pazour,G.J., Hukriede,N.A. and Lo,C.W.
  TITLE     Wdpcp, a PCP protein required for ciliogenesis, regulates
            directional cell migration and cell polarity by direct modulation
            of the actin cytoskeleton
  JOURNAL   PLoS Biol 11 (11), e1001720 (2013)
   PUBMED   24302887
REFERENCE   3  (bases 1 to 2480)
  AUTHORS   Wheway,G., Abdelhamed,Z., Natarajan,S., Toomes,C., Inglehearn,C.
            and Johnson,C.A.
  TITLE     Aberrant Wnt signalling and cellular over-proliferation in a novel
            mouse model of Meckel-Gruber syndrome
  JOURNAL   Dev Biol 377 (1), 55-66 (2013)
   PUBMED   23454480
REFERENCE   4  (bases 1 to 2480)
  AUTHORS   Szymanska,K., Berry,I., Logan,C.V., Cousins,S.R., Lindsay,H.,
            Jafri,H., Raashid,Y., Malik-Sharif,S., Castle,B., Ahmed,M.,
            Bennett,C., Carlton,R. and Johnson,C.A.
  TITLE     Founder mutations and genotype-phenotype correlations in
            Meckel-Gruber syndrome and associated ciliopathies
  JOURNAL   Cilia 1 (1), 18 (2012)
   PUBMED   23351400
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2480)
  AUTHORS   Chih,B., Liu,P., Chinn,Y., Chalouni,C., Komuves,L.G., Hass,P.E.,
            Sandoval,W. and Peterson,A.S.
  TITLE     A ciliopathy complex at the transition zone protects the cilia as a
            privileged membrane domain
  JOURNAL   Nat Cell Biol 14 (1), 61-72 (2011)
   PUBMED   22179047
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2480)
  AUTHORS   Bialas,N.J., Inglis,P.N., Li,C., Robinson,J.F., Parker,J.D.,
            Healey,M.P., Davis,E.E., Inglis,C.D., Toivonen,T., Cottell,D.C.,
            Blacque,O.E., Quarmby,L.M., Katsanis,N. and Leroux,M.R.
  TITLE     Functional interactions between the ciliopathy-associated Meckel
            syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR)
            proteins
  JOURNAL   J Cell Sci 122 (Pt 5), 611-624 (2009)
   PUBMED   19208769
REFERENCE   7  (bases 1 to 2480)
  AUTHORS   Leitch,C.C., Zaghloul,N.A., Davis,E.E., Stoetzel,C., Diaz-Font,A.,
            Rix,S., Alfadhel,M., Lewis,R.A., Eyaid,W., Banin,E., Dollfus,H.,
            Beales,P.L., Badano,J.L. and Katsanis,N.
  TITLE     Hypomorphic mutations in syndromic encephalocele genes are
            associated with Bardet-Biedl syndrome
  JOURNAL   Nat Genet 40 (4), 443-448 (2008)
   PUBMED   18327255
  REMARK    Erratum:[Nat Genet. 2008 Jul;40(7):927. Al-Fadhel, Majid [corrected
            to Alfadhel, Majid]]
REFERENCE   8  (bases 1 to 2480)
  AUTHORS   Auber,B., Burfeind,P., Herold,S., Schoner,K., Simson,G.,
            Rauskolb,R. and Rehder,H.
  TITLE     A disease causing deletion of 29 base pairs in intron 15 in the
            MKS1 gene is highly associated with the campomelic variant of the
            Meckel-Gruber syndrome
  JOURNAL   Clin Genet 72 (5), 454-459 (2007)
   PUBMED   17935508
REFERENCE   9  (bases 1 to 2480)
  AUTHORS   Khaddour,R., Smith,U., Baala,L., Martinovic,J., Clavering,D.,
            Shaffiq,R., Ozilou,C., Cullinane,A., Kyttala,M., Shalev,S.,
            Audollent,S., d'Humieres,C., Kadhom,N., Esculpavit,C., Viot,G.,
            Boone,C., Oien,C., Encha-Razavi,F., Batman,P.A., Bennett,C.P.,
            Woods,C.G., Roume,J., Lyonnet,S., Genin,E., Le Merrer,M.,
            Munnich,A., Gubler,M.C., Cox,P., Macdonald,F., Vekemans,M.,
            Johnson,C.A. and Attie-Bitach,T.
  CONSRTM   SOFFOET (Societe Francaise de Foetopathologie)
  TITLE     Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a
            genotype-phenotype correlation. Mutation in brief #960. Online
  JOURNAL   Hum Mutat 28 (5), 523-524 (2007)
   PUBMED   17397051
REFERENCE   10 (bases 1 to 2480)
  AUTHORS   Dawe,H.R., Smith,U.M., Cullinane,A.R., Gerrelli,D., Cox,P.,
            Badano,J.L., Blair-Reid,S., Sriram,N., Katsanis,N.,
            Attie-Bitach,T., Afford,S.C., Copp,A.J., Kelly,D.A., Gull,K. and
            Johnson,C.A.
  TITLE     The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and
            are required for primary cilium formation
  JOURNAL   Hum Mol Genet 16 (2), 173-186 (2007)
   PUBMED   17185389
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DN948264.1 and BC099806.1.
            
            On Sep 29, 2009 this sequence version replaced NM_001034917.1.
            
            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 :: BC099806.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMD00132262, SAMD00132264
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DN948264.1         27-28
            3-2480              BC099806.1         1-2478
FEATURES             Location/Qualifiers
     source          1..2480
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="10"
                     /map="10q26"
     gene            1..2480
                     /gene="Mks1"
                     /note="MKS transition zone complex subunit 1"
                     /db_xref="GeneID:287612"
                     /db_xref="RGD:1565186"
     CDS             1..1686
                     /gene="Mks1"
                     /note="meckel syndrome type 1 protein homolog; Meckel
                     syndrome, type 1"
                     /codon_start=1
                     /product="tectonic-like complex member MKS1"
                     /protein_id="NP_001030089.2"
                     /db_xref="GeneID:287612"
                     /db_xref="RGD:1565186"
                     /translation="MAEAVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPA
                     AQMGKDLIDLATFKPPQAASGHRPDEEEEEEVIIGWQEKLFSQFEVDLYQNESACQSP
                     LDHQYRQEVLKLENSGGRKNRRIFTYTDSDRYTDLEEYCQKITTSAGEAPSFLVERMA
                     NVRRRRQDRRGVEGSKLKSRIITWEPSEDFIRNSHAINTPLQTMYIMADLGPYGKLGY
                     KIHEHVLCVLKVDSNGVITVKPDFTGIKGPYRIETEGEKQEHTSAWKYTIDNVSSLAQ
                     PEEEEREQRVFKDLYGRHKEYLSSLVGTDFEMIAPGALRLFVNGEVVSARGYEHDNLY
                     VHFFVELPATNWSSPSFQQLSGVTQTCVTRSLGMDKVAYFSFPFTFEAFFLHEDESDE
                     SLPEWPVLYCKVLSLDFWQRYRVEGYGAVVLPVTPGSHTLTASTWRPMELGLVAELRR
                     FFIGGSLELEDPSYVRIPGTFKGERLSRFGFRTETTGTVTFRLHCLQQSRAFMESNSL
                     RKQMRSVLDRLEGFSQQSSTHNVLEAFRRARRRMQEARESLPQDLVSPTGTLA"
     exon            1..80
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            81..190
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            191..261
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            262..417
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            418..515
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            516..644
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            645..749
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            750..867
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            868..924
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            925..967
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1033
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1104
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1174
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            1175..1282
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            1283..1416
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            1417..1499
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..1597
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
     exon            1598..2466
                     /gene="Mks1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atggcggaag ccgtctggag cactgacacc ggcgaggccg tgtatcgctc ccgggacccc
       61 gtgcgcaacc tgcgcctccg agttcatctg caaagaatca catcaagcaa cttccttcat
      121 taccagcctg ctgcccagat ggggaaggac ctcatagact tggccacttt taagcctcct
      181 caagctgcta gtggacaccg ccctgatgaa gaagaggagg aagaagttat aattgggtgg
      241 caggagaagc tgtttagcca gtttgaagtt gacctgtacc aaaatgaatc cgcgtgtcag
      301 agcccattag atcatcagta ccgccaagag gtcctgaagc tggagaattc tggtggcagg
      361 aaaaaccggc gaatcttcac ttacaccgac tcggatagat acaccgactt agaagagtac
      421 tgtcagaaga taaccacttc agccggcgag gcaccatcgt ttctggttga gcggatggcg
      481 aatgtcaggc ggcggcgcca ggacaggcga ggggtggagg gcagcaaact caagtctcga
      541 atcatcacat gggagccctc agaagacttc atcaggaaca gccatgctat taacacccct
      601 cttcagacaa tgtatatcat ggcagacctg gggccgtatg ggaagcttgg ctataagata
      661 catgaacatg tcctctgcgt cctgaaggtg gatagcaatg gagtgatcac agtgaagccc
      721 gacttcactg gcatcaaagg accctacaga atcgagactg agggagagaa gcaggaacac
      781 acatctgctt ggaaatacac aattgacaac gtgtcctccc tcgcacaacc agaggaggaa
      841 gagcgggagc agcgtgtgtt caaggacctt tatggccgcc acaaggagta cctcagcagc
      901 ctcgtgggca cagactttga gatgattgcc ccgggtgccc tccggctctt tgtgaatgga
      961 gaggtagtct cagcccgagg ctatgagcat gacaacctct atgtccactt ctttgtggag
     1021 ctgccagcta cgaactggtc cagcccatca ttccagcagc tctcgggagt aacccagacc
     1081 tgtgtcacca gatccctggg aatggacaag gtggcctatt tctcctttcc attcacgttt
     1141 gaagccttct tcctccatga ggatgaatca gatgaatcac tcccagagtg gcccgtgctc
     1201 tactgtaagg tcctctcact ggacttctgg cagaggtatc gtgtggaagg ctacggggct
     1261 gtggtgctgc ctgtcacccc aggatcacac accttgactg cctccacgtg gaggcccatg
     1321 gagctgggcc tcgtggcaga gctaaggagg ttcttcattg gtggctccct ggagctggag
     1381 gacccatcct atgtgaggat accaggaacc ttcaaggggg agcggctgag ccgctttgga
     1441 ttccgcactg agacgacggg tacggtcacc ttccggctgc actgcctgca gcagtcccgg
     1501 gctttcatgg aatcgaactc cctccggaaa caaatgagga gtgtgttgga ccgtctggaa
     1561 ggattcagcc agcagagttc cacacacaac gtgctagaag cattccgtcg agcccggcgc
     1621 cgcatgcagg aggcccgaga gagcctcccc caagaccttg tgagccccac agggacgctg
     1681 gcctagctct ctgcaacctg acctgtgcag caaggaaaag atgtctgcat ccagcgctct
     1741 cactttatct tgcttattag agaccacact ggtctaccaa actggatgat ctagaaactt
     1801 ccagctggct cctctgcgta gccttcagca gggcttgctt tcttccatgt agaaacaagg
     1861 ctgagacctg ggaccccacg ttacagcctg ttcttgtttt ggctgtcaaa catgggcatc
     1921 ataacaaagc cggctgtgta gtctgcagct ccatatgggg taaacccagc attagcctgt
     1981 cctcaataca gtgtctttcc tggtttgtca tggagcctcc gaggcagaga gctctaaaat
     2041 ggagtttggc agccaggagt aacggtgcac acctttcatc ccagtactca ggaggcagag
     2101 gcaggaggat atctatgaat cagagctcag cctggtctac atattgagtt ccaggacagc
     2161 cagagctaca tagtgagacc tgatctcaaa acaaaaaaac aaaagcaaaa caacagcagc
     2221 agcaacaaga tggagtttgg catattccaa ggaggaagat gcattcgaga gctcagtctc
     2281 ctgcttcttc caaggaaagg tgagggtaag aggcctcaac ttcctggcta agtctctgtc
     2341 cccttacagt ttagggctgg ctggctttag gacatggcct gggataagtt cttagtcctt
     2401 cctgccagct gggtagggtc ttttattgca tttgtctgtt tttcatataa aaagtattta
     2461 tactgaaaaa aaaaaaaaaa
//
