LOCUS       NM_028284               1505 bp    mRNA    linear   ROD 20-OCT-2024
DEFINITION  Mus musculus Bardet-Biedl syndrome 5 (Bbs5), transcript variant 1,
            mRNA.
ACCESSION   NM_028284
VERSION     NM_028284.3
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 1505)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1505)
  AUTHORS   Bentley-Ford,M.R., Engle,S.E., Clearman,K.R., Haycraft,C.J.,
            Andersen,R.S., Croyle,M.J., Rains,A.B., Berbari,N.F. and Yoder,B.K.
  TITLE     A mouse model of BBS identifies developmental and homeostatic
            effects of BBS5 mutation and identifies novel pituitary
            abnormalities
  JOURNAL   Hum Mol Genet 30 (3-4), 234-246 (2021)
   PUBMED   33560420
  REMARK    GeneRIF: A mouse model of BBS identifies developmental and
            homeostatic effects of BBS5 mutation and identifies novel pituitary
            abnormalities.
REFERENCE   3  (bases 1 to 1505)
  AUTHORS   Bales,K.L., Bentley,M.R., Croyle,M.J., Kesterson,R.A., Yoder,B.K.
            and Gross,A.K.
  TITLE     BBSome Component BBS5 Is Required for Cone Photoreceptor Protein
            Trafficking and Outer Segment Maintenance
  JOURNAL   Invest Ophthalmol Vis Sci 61 (10), 17 (2020)
   PUBMED   32776140
  REMARK    GeneRIF: BBSome Component BBS5 Is Required for Cone Photoreceptor
            Protein Trafficking and Outer Segment Maintenance.
REFERENCE   4  (bases 1 to 1505)
  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   5  (bases 1 to 1505)
  AUTHORS   Robichaux,M.A., Potter,V.L., Zhang,Z., He,F., Liu,J., Schmid,M.F.
            and Wensel,T.G.
  TITLE     Defining the layers of a sensory cilium with STORM and cryoelectron
            nanoscopy
  JOURNAL   Proc Natl Acad Sci U S A 116 (47), 23562-23572 (2019)
   PUBMED   31690665
REFERENCE   6  (bases 1 to 1505)
  AUTHORS   Loktev,A.V., Zhang,Q., Beck,J.S., Searby,C.C., Scheetz,T.E.,
            Bazan,J.F., Slusarski,D.C., Sheffield,V.C., Jackson,P.K. and
            Nachury,M.V.
  TITLE     A BBSome subunit links ciliogenesis, microtubule stability, and
            acetylation
  JOURNAL   Dev Cell 15 (6), 854-865 (2008)
   PUBMED   19081074
REFERENCE   7  (bases 1 to 1505)
  AUTHORS   Forti,E., Aksanov,O. and Birk,R.Z.
  TITLE     Temporal expression pattern of Bardet-Biedl syndrome genes in
            adipogenesis
  JOURNAL   Int J Biochem Cell Biol 39 (5), 1055-1062 (2007)
   PUBMED   17379567
REFERENCE   8  (bases 1 to 1505)
  AUTHORS   Yen,H.J., Tayeh,M.K., Mullins,R.F., Stone,E.M., Sheffield,V.C. and
            Slusarski,D.C.
  TITLE     Bardet-Biedl syndrome genes are important in retrograde
            intracellular trafficking and Kupffer's vesicle cilia function
  JOURNAL   Hum Mol Genet 15 (5), 667-677 (2006)
   PUBMED   16399798
REFERENCE   9  (bases 1 to 1505)
  AUTHORS   Beales,P.L.
  TITLE     Lifting the lid on Pandora's box: the Bardet-Biedl syndrome
  JOURNAL   Curr Opin Genet Dev 15 (3), 315-323 (2005)
   PUBMED   15917208
  REMARK    Review article
REFERENCE   10 (bases 1 to 1505)
  AUTHORS   Li,J.B., Gerdes,J.M., Haycraft,C.J., Fan,Y., Teslovich,T.M.,
            May-Simera,H., Li,H., Blacque,O.E., Li,L., Leitch,C.C., Lewis,R.A.,
            Green,J.S., Parfrey,P.S., Leroux,M.R., Davidson,W.S., Beales,P.L.,
            Guay-Woodford,L.M., Yoder,B.K., Stormo,G.D., Katsanis,N. and
            Dutcher,S.K.
  TITLE     Comparative genomics identifies a flagellar and basal body proteome
            that includes the BBS5 human disease gene
  JOURNAL   Cell 117 (4), 541-552 (2004)
   PUBMED   15137946
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL929083.8.
            
            On Apr 25, 2018 this sequence version replaced NM_028284.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AK012283.1, BC061031.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849381, SAMN00849382
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-172               AL929083.8         46908-47079
            173-255             AL929083.8         48759-48841
            256-321             AL929083.8         52519-52584
            322-371             AL929083.8         53800-53849
            372-499             AL929083.8         53983-54110
            500-635             AL929083.8         55236-55371
            636-731             AL929083.8         56634-56729
            732-794             AL929083.8         60773-60835
            795-929             AL929083.8         62763-62897
            930-1013            AL929083.8         64763-64846
            1014-1037           AL929083.8         66678-66701
            1038-1505           AL929083.8         66841-67308
FEATURES             Location/Qualifiers
     source          1..1505
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 40.91 cM"
     gene            1..1505
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /note="Bardet-Biedl syndrome 5"
                     /db_xref="GeneID:72569"
                     /db_xref="MGI:MGI:1919819"
     exon            1..172
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..1139
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /note="isoform 1 is encoded by transcript variant 1;
                     bardet-Biedl syndrome 5 protein homolog; novel DUF1448
                     protein; BBSome complex member BBS5"
                     /codon_start=1
                     /product="BBSome complex member BBS5 isoform 1"
                     /protein_id="NP_082560.1"
                     /db_xref="CCDS:CCDS16094.1"
                     /db_xref="GeneID:72569"
                     /db_xref="MGI:MGI:1919819"
                     /translation="MSVLDVLWEDRDVRFDVSSQQMKTRPGEVLIDCLDSIEDTKGNN
                     GDRGRLLVTNLRIIWHSLALPRVNLSIGYNCILNITTRTANSKLRGQTEALYILTKCN
                     TTRFEFIFTNLVPGSPRLFTSVIAVHRAYETSKMYRDFKLRSAVIQNKQLRLLPQEHV
                     YDKINGVWNLSSDQGNLGTFFITNVRIVWHANMNDSFNVSIPYLQIRSIKIRDSKFGL
                     ALVIESSQQSGGYVLGFKIDPVEKLQESVKEINSLHKVYSASPIFGVNYEMEEKPQPL
                     EALTVEQIQDDVEIDSDDHTDAFVAYFADGNKQQDREPVFSEELGLAIEKLKDGFTLQ
                     GLWEVMS"
     exon            173..255
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            256..321
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            322..371
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            372..499
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            500..635
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            636..731
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            732..794
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            795..929
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1013
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1037
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1505
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1481..1486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /note="hexamer: AATAAA"
     polyA_site      1505
                     /gene="Bbs5"
                     /gene_synonym="1700049I01Rik; 2700023J09Rik"
                     /note="major polyA site"
ORIGIN      
        1 gggccccggc gcccgccgta gatgtcgtga caaagccggc gcgttgcctt ggcgcccata
       61 agacgccgcc gagcagccac tgtggatttc atcggcgagc tccctcggtc accatgtctg
      121 tgctggacgt gttgtgggag gaccgcgacg tgcgcttcga cgtgtcctcg caacagatga
      181 aaacaagacc cggggaagtc ctcattgact gtttagattc cattgaagac acaaaaggaa
      241 acaatggaga cagaggtaga ctcttagtca caaacttaag gatcatctgg cattccttgg
      301 cattgcccag agtcaatctt tctattggtt acaactgcat attgaatatc acaacaagaa
      361 ctgctaactc taaactgcga ggccaaaccg aagctcttta tatattgaca aaatgcaaca
      421 ctacccggtt tgagtttata ttcacaaacc tggttcccgg gagccccaga ctttttactt
      481 ctgtgatcgc agtgcacaga gcatatgaaa cttctaaaat gtaccgtgac tttaagttga
      541 gaagtgcagt cattcagaac aagcagctga ggttactacc acaggagcat gtgtatgata
      601 agatcaatgg cgtatggaat ctgtccagcg accaggggaa tttaggaact ttttttatta
      661 ccaatgtgag aattgtgtgg catgccaata tgaatgacag ttttaatgtc agcataccat
      721 atctgcaaat tcgttcaata aagatcagag attcaaaatt tggtttggcg cttgtcatag
      781 aaagctctca gcagagtgga ggatacgtcc ttggctttaa aatagaccct gtggaaaaac
      841 tacaggaatc agttaaagag atcaactcac ttcacaaagt ctattctgcc agtccaatat
      901 ttggagtgaa ttatgaaatg gaagaaaagc cacagccact tgaagctctg actgttgaac
      961 aaattcaaga tgatgtggaa atagactctg atgaccacac ggatgctttt gtggcgtatt
     1021 ttgctgatgg gaataagcaa caagatcgtg aacctgtatt ttcagaagaa ctggggcttg
     1081 caatagagaa actgaaggat ggattcacac tgcagggact ttgggaagtg atgagttgat
     1141 cttgagttgt tggattcaca ctgcagggac tttgggatga gttaatcttg aatgagttga
     1201 gctggacctc tatttaaaga tatctcaaga ttaaaagata ctgcttgcct gctatatagg
     1261 cttgggatat tttatatatt catagctttt atattttata ttttaagacg tttttaatta
     1321 ttaaggaaaa actccttaat tttagaaaac tgtcagtttt ctaaaaatta tatttaaaat
     1381 tgcaactgaa gtgtacctcg tttacaaatg ttaatattgt acctaatact tgtaaaaata
     1441 ttgattttca gatattaagt gattgtatca tgttggattt aataaagact tttatgcagc
     1501 actaa
//
