LOCUS       NM_021527               3215 bp    mRNA    linear   ROD 04-JUN-2024
DEFINITION  Mus musculus McKusick-Kaufman syndrome (Mkks), transcript variant
            1, mRNA.
ACCESSION   NM_021527
VERSION     NM_021527.2
KEYWORDS    RefSeq; RefSeq Select.
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 3215)
  AUTHORS   Yue,H., Li,S., Qin,J., Gao,T., Lyu,J., Liu,Y., Wang,X., Guan,Z.,
            Zhu,Z., Niu,B., Zhong,R., Guo,J. and Wang,J.
  TITLE     Down-Regulation of Inpp5e Associated With Abnormal Ciliogenesis
            During Embryonic Neurodevelopment Under Inositol Deficiency
  JOURNAL   Front Neurol 12, 579998 (2021)
   PUBMED   34093381
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3215)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3215)
  AUTHORS   Patnaik,S.R., Kretschmer,V., Brucker,L., Schneider,S., Volz,A.K.,
            Oancea-Castillo,L.D.R. and May-Simera,H.L.
  TITLE     Bardet-Biedl Syndrome proteins regulate cilia disassembly during
            tissue maturation
  JOURNAL   Cell Mol Life Sci 76 (4), 757-775 (2019)
   PUBMED   30446775
  REMARK    GeneRIF: Loss of Bardet-Biedl Syndrome proteins (BBS) proteins Bbs6
            and Bbs8 affects ciliated retinal pigment epithelium (RPE).
REFERENCE   4  (bases 1 to 3215)
  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   5  (bases 1 to 3215)
  AUTHORS   Starks,R.D., Beyer,A.M., Guo,D.F., Boland,L., Zhang,Q.,
            Sheffield,V.C. and Rahmouni,K.
  TITLE     Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome
            Proteins
  JOURNAL   PLoS Genet 11 (6), e1005311 (2015)
   PUBMED   26103456
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3215)
  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   7  (bases 1 to 3215)
  AUTHORS   Kim,J.C., Ou,Y.Y., Badano,J.L., Esmail,M.A., Leitch,C.C.,
            Fiedrich,E., Beales,P.L., Archibald,J.M., Katsanis,N., Rattner,J.B.
            and Leroux,M.R.
  TITLE     MKKS/BBS6, a divergent chaperonin-like protein linked to the
            obesity disorder Bardet-Biedl syndrome, is a novel centrosomal
            component required for cytokinesis
  JOURNAL   J Cell Sci 118 (Pt 5), 1007-1020 (2005)
   PUBMED   15731008
  REMARK    GeneRIF: MKKS/BBS6 is a novel centrosomal component required for
            cytokinesis
REFERENCE   8  (bases 1 to 3215)
  AUTHORS   Mykytyn,K., Nishimura,D.Y., Searby,C.C., Beck,G., Bugge,K.,
            Haines,H.L., Cornier,A.S., Cox,G.F., Fulton,A.B., Carmi,R.,
            Iannaccone,A., Jacobson,S.G., Weleber,R.G., Wright,A.F., Riise,R.,
            Hennekam,R.C., Luleci,G., Berker-Karauzum,S., Biesecker,L.G.,
            Stone,E.M. and Sheffield,V.C.
  TITLE     Evaluation of complex inheritance involving the most common
            Bardet-Biedl syndrome locus (BBS1)
  JOURNAL   Am J Hum Genet 72 (2), 429-437 (2003)
   PUBMED   12524598
REFERENCE   9  (bases 1 to 3215)
  AUTHORS   Stone,D.L., Slavotinek,A., Bouffard,G.G., Banerjee-Basu,S.,
            Baxevanis,A.D., Barr,M. and Biesecker,L.G.
  TITLE     Mutation of a gene encoding a putative chaperonin causes
            McKusick-Kaufman syndrome
  JOURNAL   Nat Genet 25 (1), 79-82 (2000)
   PUBMED   10802661
REFERENCE   10 (bases 1 to 3215)
  AUTHORS   Awwad,J.T., Sayegh,R.A., Tao,X.J., Hassan,T., Awwad,S.T. and
            Isaacson,K.
  TITLE     The SCID mouse: an experimental model for endometriosis
  JOURNAL   Hum Reprod 14 (12), 3107-3111 (1999)
   PUBMED   10601104
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BY735964.1, CJ157733.1 and
            BC080765.1.
            
            On Nov 21, 2008 this sequence version replaced NM_021527.1.
            
            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. Alternatively spliced transcripts
            encoding distinct isoforms have been found for this gene. [provided
            by RefSeq, Nov 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (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 :: SRR1660811.172095.1, AF254074.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164135 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            regulatory uORF        :: PMID: 23671934
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-128               BY735964.1         2-129
            129-364             CJ157733.1         130-365
            365-3215            BC080765.1         105-2955
FEATURES             Location/Qualifiers
     source          1..3215
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 67.64 cM"
     gene            1..3215
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /note="McKusick-Kaufman syndrome"
                     /db_xref="GeneID:59030"
                     /db_xref="MGI:MGI:1891836"
     exon            1..364
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /inference="alignment:Splign:2.1.0"
     exon            365..592
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      373..504
                     /regulatory_class="uORF"
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /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      386..565
                     /regulatory_class="uORF"
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:23671934]"
                     /note="this uORF is known as uMKKS1 and encodes a 59 aa
                     protein which is localized to mitochondrial membrane
                     (PMID:23671934)"
     exon            593..1981
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      635..787
                     /regulatory_class="uORF"
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:23671934]"
                     /note="this uORF is known as uMKKS2 and encodes a 50 aa
                     protein which is localized to mitochondrial membrane
                     (PMID:23671934)"
     CDS             997..2709
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mcKusick-Kaufman/Bardet-Biedl syndromes putative
                     chaperonin; protein Bbs6 homolog; McKusick-Kaufman
                     syndrome protein; McKusick-Kaufman syndrome protein; MKKS
                     protein; molecular chaperone MKKS"
                     /codon_start=1
                     /product="molecular chaperone MKKS isoform 1"
                     /protein_id="NP_067502.2"
                     /db_xref="CCDS:CCDS16794.1"
                     /db_xref="GeneID:59030"
                     /db_xref="MGI:MGI:1891836"
                     /translation="MSRLEAKKPSLCKTEPLTSEKVRSTLSVLKGVIASCYGPSGRLK
                     QLHNGLGGCVYTTSQSSALLRNLSVTHPVLKILTSSVQNHVSCFSDCGLFTAILCCNL
                     IENIQRLDLTPATAIKLNKYLLSLCTSYLKSEACSCRIPVDFRSTHTFLSLVHSILTS
                     KPACMLTRKETDHIGALILKAFLLTIPESTEERMVLGKSIIVPLKGQRVTDSTVLPGL
                     LIEASEVQLRRLLPTQKASGLRVALFCTSLSGDFSNAGEGVVVAHYQVSLENAVLEQL
                     LNLGRRLVTDHVDLVLCQKVIHPSLKQFFSERHVMAIDRVGVTLMESLSKVTGATPIG
                     SLNPIVSTTYGSVKDVCSARFGSKHFFHLLPNEATVCTLLLCSRNDTAWEELKLTCQT
                     AMHVLQLTIKEPWVLLGGGCTETHLAAYVRHKVHHEAEAIVRDDGCTQAKLHVAAEAF
                     CSALESVAGSLEHDGGEILIDTKYGHLWSCQADSASVGNWSDTLSRCGCGLYNSQEEL
                     SWSVLRSTYHPFAPQTCLPQAALGSASNLTVDCFTAKLSGLQVAVETANLILDLSYVI
                     EDKN"
     exon            1982..2157
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /inference="alignment:Splign:2.1.0"
     exon            2158..2268
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /inference="alignment:Splign:2.1.0"
     exon            2269..3195
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3171..3176
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /note="hexamer: AATAAA"
     polyA_site      3195
                     /gene="Mkks"
                     /gene_synonym="1300013E18Rik; Bbs6"
                     /note="major polyA site"
ORIGIN      
        1 attcgttcta caaatacctt tcgagagagc agagagccgc acgctctgcc accttcttgg
       61 tgctgtgatg tgatgtgatg tgacctttca attttggtag cgcgcacaga cagaatacac
      121 gtctgcccgt aagatttccg gtgacggccg cagctttcct ttgcgggagc ttcacgcaaa
      181 ccccggaaga ggggcggggg aaggaggggt ggtgcgcgtg agcatagagt tgcgcatgcg
      241 ccttcttgcc gcgcagggca aaggtggtgg cgctccgctg cgtggttggt tgctgtgcaa
      301 gcgcgatttc tggtttctgg tggtgaaggt ggcctgacct agaggtgcag ctgctggtgg
      361 gcaggtgtgc tgatgtcaac agactatgag ctttcagaat ctctggagag agtacaaagt
      421 tctgatggtt atggtaccat taattgggtt catacatttg gggtggcaca gaatcaaaag
      481 cagccctgtc ttccaagttc ctaaggacga taccactgag ctggatagtc tgggacttgc
      541 aagtccacca aagagccaaa cctaggagaa gtagccatct tgcagttttc agaaagaagc
      601 aactttgaat ctgaacttga taataaaaga agaaatgaaa aaccccagtt ggattagaaa
      661 gaactggctt cttgtggctg gggtgacttt cataggcgtc catcttggaa catactttat
      721 acagagagtt gcaaaagagt ctgtgaggtc tgaggccaga ggcagacaaa agaatattga
      781 agaatgaagc aaaataaaga ctttggatta ttaatgtcat taaattaatc tatgctggtt
      841 attgtctgaa accacttgat tttgtagctg gtaatgctgc atgtgcagac tcatacctgg
      901 agaccagtct ttaatgttca aacacatgac agtgcaataa aatgaaagcc atatgaacaa
      961 actaaagctg ccttcacaag ttacacctga agcaggatgt ctcggttaga agctaagaag
     1021 ccatcgttgt gtaaaactga accattgaca agtgagaaag tcaggtccac actttctgtc
     1081 ttgaaaggag tcatagcctc atgctatggc ccttcaggga ggctgaagca gctacacaat
     1141 ggattgggag gttgtgtgta cacaacctca cagtcctcag ccctgcttcg aaacctttca
     1201 gtcacccatc ccgtattaaa gatcctaacg tcatccgtgc agaatcacgt gtcctgcttc
     1261 agtgactgcg gcttattcac agccattctg tgctgcaact tgattgaaaa tattcaaaga
     1321 ctagatttga cacccgcaac tgctattaaa ttaaataaat acctcttgag tctctgtacc
     1381 agttatctca agtctgaagc ctgtagttgt cgaatcccag ttgacttcag aagtacacat
     1441 accttcctca gcttggtaca cagtatctta acaagcaaac cagcctgtat gctcaccaga
     1501 aaggaaacag atcacatagg tgctttgatt ttgaaagctt ttttacttac aattccagaa
     1561 agtacagaag aacgaatggt tttagggaag agtataattg ttcccttaaa gggccaaaga
     1621 gttacagatt ctactgtatt acctggacta ctcattgaag catcagaagt tcaattaagg
     1681 aggttattac ccactcaaaa ggcaagtggc cttagggtgg cactcttctg tacatcttta
     1741 tctggagatt tttctaatgc tggagaagga gtggtggtgg cccattacca agtgtccctt
     1801 gagaatgcag ttttagagca gttgcttaat ctaggaaggc gactagtcac tgatcatgta
     1861 gaccttgtcc tgtgccaaaa agtaatccac ccatctttga aacagttctt cagtgagcgc
     1921 cacgttatgg ccatcgacag agttggggtg actctgatgg aatctctaag caaagtgaca
     1981 ggagcaacgc ctattggttc tctaaaccca atagtttcta ctacttatgg aagtgtgaaa
     2041 gatgtgtgct ctgcaagatt tggctccaaa catttttttc atcttcttcc taatgaggcc
     2101 actgtctgca ccttgcttct ctgcagcaga aatgacaccg cctgggagga gctgaagctc
     2161 acatgtcaaa cagcaatgca cgtcttgcag ttaacaatca aggaaccgtg ggttttattg
     2221 ggaggtggct gtacagaaac acacttggct gcatatgtca gacacaaggt tcatcacgag
     2281 gcagaagcta ttgtcagaga tgatgggtgt actcaggcaa agctgcatgt tgctgctgaa
     2341 gcattttgca gtgctctgga gtccgttgct ggctctttgg aacatgatgg tggtgaaatc
     2401 ctcattgaca cgaagtatgg acacctttgg tcctgtcaag cagattctgc ctctgttggt
     2461 aactggtcag atacgctgtc acggtgtggc tgtggtttgt acaacagcca ggaagagctc
     2521 agctggtctg tcttaagaag tacttatcat ccttttgcac cacaaacctg ccttccacag
     2581 gcagctttgg gctcagccag taacctgact gtggactgct tcactgccaa gctgagtggc
     2641 ttacaggtgg ctgtagagac agccaatttg attttagatc tttcatatgt cattgaagat
     2701 aaaaactaac ataagagaat ggcatatata tgttctgaag caaactagtt gaggtgtcta
     2761 agagagcata ctgttctctc ccaaaggcct gttctccata ggtgaacaga tgacctgtaa
     2821 aagtatactt gtatacttaa ggaagattat ggttgttaaa tagaaatgta tagactaata
     2881 aaaattcttg atgcctttat tttcatcacc atcaccccac ttttggtgtc ctcacacaca
     2941 tttaagtttg gaggtttatg aacactaaat aataggtcac ctaggaaaat ggaaattgcc
     3001 ttgatgctgc ttctccaagt tgttccaaga aagggtgccc tgtacctttc cactggcagg
     3061 acattaccat tgttagttct gtacactagc tttttgtaaa gcttgatcct tccttgatga
     3121 tacattgctg ctcttatttt aaatattgaa tgaatttatt ggtatatttt aataaaatga
     3181 tctgtgttcc ctaaaaaaaa aaaaaaaaaa aaaaa
//
