LOCUS       NP_001030089             561 aa            linear   ROD 03-APR-2024
DEFINITION  tectonic-like complex member MKS1 [Rattus norvegicus].
ACCESSION   NP_001030089 XP_220833
VERSION     NP_001030089.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 561)
  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  (residues 1 to 561)
  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  (residues 1 to 561)
  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  (residues 1 to 561)
  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  (residues 1 to 561)
  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  (residues 1 to 561)
  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  (residues 1 to 561)
  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  (residues 1 to 561)
  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  (residues 1 to 561)
  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 (residues 1 to 561)
  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 NP_001030089.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..561
                     /organism="Rattus norvegicus"
                     /db_xref="taxon:10116"
                     /chromosome="10"
                     /map="10q26"
     Protein         1..561
                     /product="tectonic-like complex member MKS1"
                     /note="meckel syndrome type 1 protein homolog; Meckel
                     syndrome, type 1"
                     /calculated_mol_wt=64392
     Region          316..496
                     /region_name="B9-C2"
                     /note="Ciliary basal body-associated, B9 protein;
                     pfam07162"
                     /db_xref="CDD:462108"
     CDS             1..561
                     /gene="Mks1"
                     /coded_by="NM_001034917.2:1..1686"
                     /db_xref="GeneID:287612"
                     /db_xref="RGD:1565186"
ORIGIN      
        1 maeavwstdt geavyrsrdp vrnlrlrvhl qritssnflh yqpaaqmgkd lidlatfkpp
       61 qaasghrpde eeeeeviigw qeklfsqfev dlyqnesacq spldhqyrqe vlklensggr
      121 knrriftytd sdrytdleey cqkittsage apsflverma nvrrrrqdrr gvegsklksr
      181 iitwepsedf irnshaintp lqtmyimadl gpygklgyki hehvlcvlkv dsngvitvkp
      241 dftgikgpyr ietegekqeh tsawkytidn vsslaqpeee ereqrvfkdl ygrhkeylss
      301 lvgtdfemia pgalrlfvng evvsargyeh dnlyvhffve lpatnwssps fqqlsgvtqt
      361 cvtrslgmdk vayfsfpftf eafflhedes deslpewpvl yckvlsldfw qryrvegyga
      421 vvlpvtpgsh tltastwrpm elglvaelrr ffiggslele dpsyvripgt fkgerlsrfg
      481 frtettgtvt frlhclqqsr afmesnslrk qmrsvldrle gfsqqssthn vleafrrarr
      541 rmqeareslp qdlvsptgtl a
//
