LOCUS       NM_001008353            2994 bp    mRNA    linear   ROD 03-APR-2024
DEFINITION  Rattus norvegicus MKKS centrosomal shuttling protein (Mkks), mRNA.
ACCESSION   NM_001008353 XM_230628
VERSION     NM_001008353.2
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 2994)
  AUTHORS   Scott,C.A., Marsden,A.N., Rebagliati,M.R., Zhang,Q., Chamling,X.,
            Searby,C.C., Baye,L.M., Sheffield,V.C. and Slusarski,D.C.
  TITLE     Nuclear/cytoplasmic transport defects in BBS6 underlie congenital
            heart disease through perturbation of a chromatin remodeling
            protein
  JOURNAL   PLoS Genet 13 (7), e1006936 (2017)
   PUBMED   28753627
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2994)
  AUTHORS   Hernandez-Hernandez,V., Pravincumar,P., Diaz-Font,A.,
            May-Simera,H., Jenkins,D., Knight,M. and Beales,P.L.
  TITLE     Bardet-Biedl syndrome proteins control the cilia length through
            regulation of actin polymerization
  JOURNAL   Hum Mol Genet 22 (19), 3858-3868 (2013)
   PUBMED   23716571
REFERENCE   3  (bases 1 to 2994)
  AUTHORS   Akimoto,C., Sakashita,E., Kasashima,K., Kuroiwa,K., Tominaga,K.,
            Hamamoto,T. and Endo,H.
  TITLE     Translational repression of the McKusick-Kaufman syndrome
            transcript by unique upstream open reading frames encoding
            mitochondrial proteins with alternative polyadenylation sites
  JOURNAL   Biochim Biophys Acta 1830 (3), 2728-2738 (2013)
   PUBMED   23671934
  REMARK    GeneRIF: Three uORFs (uMKKS0, uMKKS1 and uMKKS2) are reported, and
            they can repress the translation of the downstream MKKS ORF. uMKKS1
            and uMKKS2 are highly conserved in mammals and they encode two
            different mitochondrial membrane proteins respectively.
REFERENCE   4  (bases 1 to 2994)
  AUTHORS   Rachel,R.A., May-Simera,H.L., Veleri,S., Gotoh,N., Choi,B.Y.,
            Murga-Zamalloa,C., McIntyre,J.C., Marek,J., Lopez,I., Hackett,A.N.,
            Zhang,J., Brooks,M., den Hollander,A.I., Beales,P.L., Li,T.,
            Jacobson,S.G., Sood,R., Martens,J.R., Liu,P., Friedman,T.B.,
            Khanna,H., Koenekoop,R.K., Kelley,M.W. and Swaroop,A.
  TITLE     Combining Cep290 and Mkks ciliopathy alleles in mice rescues
            sensory defects and restores ciliogenesis
  JOURNAL   J Clin Invest 122 (4), 1233-1245 (2012)
   PUBMED   22446187
  REMARK    Erratum:[J Clin Invest. 2012 Aug 1;122(8):3025. Zhang, Jun [added]]
REFERENCE   5  (bases 1 to 2994)
  AUTHORS   Gascue,C., Tan,P.L., Cardenas-Rodriguez,M., Libisch,G.,
            Fernandez-Calero,T., Liu,Y.P., Astrada,S., Robello,C., Naya,H.,
            Katsanis,N. and Badano,J.L.
  TITLE     Direct role of Bardet-Biedl syndrome proteins in transcriptional
            regulation
  JOURNAL   J Cell Sci 125 (Pt 2), 362-375 (2012)
   PUBMED   22302990
REFERENCE   6  (bases 1 to 2994)
  AUTHORS   Beyer,A.M., Guo,D.F., Sheffield,V.C. and Rahmouni,K.
  TITLE     Contrasting vascular effects caused by loss of Bardet-Biedl
            syndrome genes
  JOURNAL   Am J Physiol Heart Circ Physiol 299 (6), H1902-H1907 (2010)
   PUBMED   20852044
REFERENCE   7  (bases 1 to 2994)
  AUTHORS   Fath,M.A., Mullins,R.F., Searby,C., Nishimura,D.Y., Wei,J.,
            Rahmouni,K., Davis,R.E., Tayeh,M.K., Andrews,M., Yang,B.,
            Sigmund,C.D., Stone,E.M. and Sheffield,V.C.
  TITLE     Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
  JOURNAL   Hum Mol Genet 14 (9), 1109-1118 (2005)
   PUBMED   15772095
REFERENCE   8  (bases 1 to 2994)
  AUTHORS   Andersen,K.L., Echwald,S.M., Larsen,L.H., Hamid,Y.H., Glumer,C.,
            Jorgensen,T., Borch-Johnsen,K., Andersen,T., Sorensen,T.I.,
            Hansen,T. and Pedersen,O.
  TITLE     Variation of the McKusick-Kaufman gene and studies of relationships
            with common forms of obesity
  JOURNAL   J Clin Endocrinol Metab 90 (1), 225-230 (2005)
   PUBMED   15483080
REFERENCE   9  (bases 1 to 2994)
  AUTHORS   Slavotinek,A.M., Searby,C., Al-Gazali,L., Hennekam,R.C.,
            Schrander-Stumpel,C., Orcana-Losa,M., Pardo-Reoyo,S., Cantani,A.,
            Kumar,D., Capellini,Q., Neri,G., Zackai,E. and Biesecker,L.G.
  TITLE     Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and
            selected Bardet-Biedl syndrome patients
  JOURNAL   Hum Genet 110 (6), 561-567 (2002)
   PUBMED   12107442
REFERENCE   10 (bases 1 to 2994)
  AUTHORS   Katsanis,N., Beales,P.L., Woods,M.O., Lewis,R.A., Green,J.S.,
            Parfrey,P.S., Ansley,S.J., Davidson,W.S. and Lupski,J.R.
  TITLE     Mutations in MKKS cause obesity, retinal dystrophy and renal
            malformations associated with Bardet-Biedl syndrome
  JOURNAL   Nat Genet 26 (1), 67-70 (2000)
   PUBMED   10973251
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB586701.1 and BC083863.1.
            
            On Nov 22, 2013 this sequence version replaced NM_001008353.1.
            
            Summary: This gene encodes a protein which shares sequence
            similarity with other members of the type II chaperonin family. The
            encoded protein is a centrosome-shuttling protein and plays an
            important role in cytokinesis. This protein also interacts with
            other type II chaperonin members to form a complex known as the
            BBSome, which involves ciliary membrane biogenesis. This protein is
            encoded by a downstream open reading frame (dORF). Several upstream
            open reading frames (uORFs) have been identified, which repress the
            translation of the dORF, and two of which can encode small
            mitochondrial membrane proteins. [provided by RefSeq, Nov 2013].
            
            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 :: BC083863.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA5760383, SAMEA5760389
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            regulatory uORF        :: PMID: 23671934
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                CB586701.1         1-22
            23-2994             BC083863.1         1-2972
FEATURES             Location/Qualifiers
     source          1..2994
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="3"
                     /map="3q36"
     gene            1..2994
                     /gene="Mkks"
                     /note="MKKS centrosomal shuttling protein"
                     /db_xref="GeneID:311456"
                     /db_xref="RGD:1308814"
     exon            1..118
                     /gene="Mkks"
                     /inference="alignment:Splign:2.1.0"
     exon            119..346
                     /gene="Mkks"
                     /inference="alignment:Splign:2.1.0"
     regulatory      127..258
                     /regulatory_class="uORF"
                     /gene="Mkks"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:23671934]"
                     /note="this uORF is known as uMKKS0 and is predicted to
                     encode a 43 aa peptide (PMID:23671934)"
     regulatory      140..319
                     /regulatory_class="uORF"
                     /gene="Mkks"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:23671934]"
                     /note="this uORF is known as uMKKS1 and encodes a 59 aa
                     mitochondrial membrane protein (PMID:23671934)"
     exon            347..1738
                     /gene="Mkks"
                     /inference="alignment:Splign:2.1.0"
     regulatory      389..541
                     /regulatory_class="uORF"
                     /gene="Mkks"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:23671934]"
                     /note="this uORF is known as uMKKS2 and encodes a 50 aa
                     mitochondrial membrane protein (PMID:23671934)"
     CDS             754..2466
                     /gene="Mkks"
                     /note="McKusick-Kaufman/Bardet-Biedl syndromes putative
                     chaperonin; McKusick-Kaufman syndrome protein"
                     /codon_start=1
                     /product="molecular chaperone MKKS"
                     /protein_id="NP_001008354.1"
                     /db_xref="GeneID:311456"
                     /db_xref="RGD:1308814"
                     /translation="MSRLEAKKPSLCKTEPLTSERVRSTLSVLKGIIASCYGPSGRLK
                     QLHNGLGGCVCTTSQSSALLRNLSVTHPILKVLTSSVQNHVCCFSDCGLFTAILCCNL
                     IENIQRIGLTPTTAIKLNKYLLGLSISYLKSEACSCRIPVDFRSTHTFLNLVHSILTS
                     KPACMLTRKEIDHIGALILKAFLLTIPESAEERMVLGKSIIVPLKGQQVTDSTVLPGL
                     LIEASEVQLRRLLPTQKSSTLRVALFCASLSGDFSNAGEGTLVVHYQVSLENAVLEQL
                     LNLGRQLVSDHVDLVLCQKVIHPSLKQFLSEHQIIAIDRVGVTLMEPLSKVTGATPIG
                     SLYPIVSTTYGSVKDVRSARFGSKYFFHLLPNEATICSLLLCSRNDTAWEELKLTCQT
                     AMHVLQLTIKEPWVLLGGGCVETHLAAYIRHKVHNEAEAIVRDDGCSQAELHIATEAF
                     CSALESAAVSLEHDGGEILIDMKYGHFWSCPADSASVGNWPDTLSRCGCGLYNSQEEL
                     SWSVLRSTYHPFAPQTCLPQAASGSVSNLTVDSFTAKLSGLQVAVETANLILDLSYVI
                     EDKN"
     exon            1739..1914
                     /gene="Mkks"
                     /inference="alignment:Splign:2.1.0"
     exon            1915..2025
                     /gene="Mkks"
                     /inference="alignment:Splign:2.1.0"
     exon            2026..2971
                     /gene="Mkks"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2947..2952
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mkks"
     polyA_site      2971
                     /gene="Mkks"
ORIGIN      
        1 cgccgcgcag ggcaaaggtg gtggcgctct ggtgaatggt tggttgctgt gcaagagcgt
       61 tttctggctt ttggtggcga aggcggcctg gccgcgaggt gcagctgctg gtgggcaggt
      121 gtactaatgt ctacagacta tgagctttca gaatctctgg agagagtaca aagttctgat
      181 tgttatggta cctttaatcg ggttcataca tttggggtgg cacagaatca aaagcagccc
      241 tgtcttccaa attcctaagg acgatacccc tgagctggat agtctggggc ttgcaagtcc
      301 accaaagagc caaccctagg agaaggagca agcttgcagt tttcagaaag aagcaacttt
      361 gaatctgaac ttgataataa aagaagaaat gaaaaacccc agttggatta gaaagaactg
      421 gcttcttgtg gctggggtga ctttcgtagg cgtccatctt ggaacgtact taatacagag
      481 agctgcgaga gagtctgtga ggtctcagtc cagagacaaa caaaggaata ttgaagagtg
      541 aagcaaaata aatacttgga attattaatg tctttaaatt catctatgct ggttattgtc
      601 tgaaaaccac ttgattttgt agctggtaat gctgcatgta cagaccttca tacctggaga
      661 atagtcttta atgttcaaat acatgacatt aaaataaaat gaaaaacatg tgaacaaact
      721 aaaggtgtct tcacaactta cacctgaagc aggatgtctc gtttagaagc taagaagcca
      781 tcattgtgta aaactgaacc actgacaagt gagagagtca ggtctacact ttctgtcttg
      841 aaaggaatca tagcctcatg ctatggccct tcagggaggc tgaagcagct gcacaatgga
      901 ttaggaggtt gtgtgtgtac aacttcacag tcctcagccc tgcttcgaaa cctttcggtc
      961 acccatccca tattaaaggt cctaacatca tctgtgcaga atcacgtgtg ctgcttcagt
     1021 gactgcggct tattcacagc cattctgtgc tgcaacttga ttgaaaatat tcagagaata
     1081 ggtttgacac ccacaactgc tattaaatta aataaatacc tcttgggtct cagtatcagt
     1141 tatctcaagt ctgaagcctg tagttgtcga atcccagttg acttcagaag tacacatacc
     1201 ttcctcaact tggtacacag tatcttaacc agcaaaccag cctgcatgct taccagaaag
     1261 gaaatagatc acataggtgc tttgattttg aaagcttttt tgcttacaat tccagaaagt
     1321 gcagaagagc gaatggtttt agggaagagt ataattgttc ccttaaaggg ccaacaagta
     1381 acagattcta ctgtattacc tggacttctt attgaagcat cagaagttca attaaggaga
     1441 ttattaccca cccagaagtc aagtaccctt agggtggcac tcttctgtgc atctttatct
     1501 ggagattttt ctaatgctgg agaaggaacc ttggtggtcc attaccaagt gtcccttgag
     1561 aatgcagttt tagagcagtt gcttaatcta ggaagacagc tagtcagtga ccatgtagat
     1621 cttgtcctgt gccaaaaagt catacaccca tctttgaaac agttcctcag tgaacatcaa
     1681 attattgcca tcgacagagt tggagtgact ctgatggaac ctctgagcaa agtgacagga
     1741 gcaacgccta ttggttccct atacccaata gtttctacta cttatggaag tgtgaaagat
     1801 gtgcgctctg caagatttgg ctccaaatat ttttttcatc ttcttcctaa tgaggcgacc
     1861 atctgcagct tgcttctctg cagcagaaat gacactgcct gggaggagct gaagctcacg
     1921 tgtcaaacag caatgcatgt cttgcagtta acaatcaagg aaccatgggt tttattggga
     1981 ggtggctgtg tggaaacaca cttggctgca tatatcagac acaaggttca taatgaggca
     2041 gaggctattg tcagagatga tgggtgttct caggcagagc tccacattgc tactgaagca
     2101 ttttgcagtg ctctggaatc cgccgctgtc tctttggaac atgatggtgg tgaaatcctc
     2161 attgacatga agtatggaca cttttggtca tgtccagcag attctgcctc tgtaggtaac
     2221 tggccagata cactgtcacg gtgtggctgt ggtttataca acagccagga agagctcagc
     2281 tggtctgtcc taagaagcac ttaccatcct tttgcaccac aaacctgcct tccacaggca
     2341 gcttctggct cagtgagtaa cctgactgta gactctttca ctgccaagct gagtggacta
     2401 caggtggctg tagagacagc caatttgatt ttagatcttt catatgtcat tgaagataaa
     2461 aactaacata agagaacagc atatatatgt tatgaaacag actggttcag gtatctaaga
     2521 gagcatattg ttctctccca aaggcctgtt ctccatagat gaacagatgc tttgtaaaag
     2581 tatgcttata tacttgtata cttaagggag attatggaaa tagaaattta tagactaata
     2641 aaaattcttg atgcccttac atcatcacat caccccactt ttgatgtcct cacatttaag
     2701 tttggaggtt tacaaatact aaagatagta tgtcacccag gaatatggag attgccctga
     2761 tgctgcttct ccaagttgtt ccaataaggg tgacctgtac ttttccactg gcgggatagg
     2821 agtcttcact tctcatgata gccattgtag ttctgtgctt ttagcttttg gttaaacttg
     2881 atcccttcct tgatgttcca ttgctgctct tgttttaaat attgtatgaa ttcgttggta
     2941 tattttaata aaatgatctg tgttccctaa aaaaaaaaaa aaaaaaaaaa aaaa
//
