LOCUS       NM_152384               3159 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens Bardet-Biedl syndrome 5 (BBS5), mRNA.
ACCESSION   NM_152384 XM_939889 XM_944371 XM_944374 XM_944379
VERSION     NM_152384.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3159)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 3159)
  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 3159)
  AUTHORS   Hey,C.A.B., Larsen,L.J., Tumer,Z., Brondum-Nielsen,K., Gronskov,K.,
            Hjortshoj,T.D. and Moller,L.B.
  TITLE     BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog
            Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing
            RPE-Like Cells
  JOURNAL   Int J Mol Sci 22 (3), 1345 (2021)
   PUBMED   33572860
  REMARK    GeneRIF: BBS Proteins Affect Ciliogenesis and Are Essential for
            Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65
            Expressing RPE-Like Cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3159)
  AUTHORS   Okitsu,Y., Nagano,M., Yamagata,T., Ito,C., Toshimori,K., Dohra,H.,
            Fujii,W. and Yogo,K.
  TITLE     Dlec1 is required for spermatogenesis and male fertility in mice
  JOURNAL   Sci Rep 10 (1), 18883 (2020)
   PUBMED   33144677
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3159)
  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
  REMARK    GeneRIF: identified BBS5, a novel gene for Bardet-Biedl syndrome;
            it localizes to basal bodies, is under the regulatory control of
            daf-19, and is necessary for the generation of both cilia and
            flagella
REFERENCE   6  (bases 1 to 3159)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   7  (bases 1 to 3159)
  AUTHORS   Young,T.L., Penney,L., Woods,M.O., Parfrey,P.S., Green,J.S.,
            Hefferton,D. and Davidson,W.S.
  TITLE     A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31
  JOURNAL   Am J Hum Genet 64 (3), 900-904 (1999)
   PUBMED   10053027
REFERENCE   8  (bases 1 to 3159)
  AUTHORS   Woods,M.O., Young,T.L., Parfrey,P.S., Hefferton,D., Green,J.S. and
            Davidson,W.S.
  TITLE     Genetic heterogeneity of Bardet-Biedl syndrome in a distinct
            Canadian population: evidence for a fifth locus
  JOURNAL   Genomics 55 (1), 2-9 (1999)
   PUBMED   9888993
REFERENCE   9  (bases 1 to 3159)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   10 (bases 1 to 3159)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093899.3, AY604003.1,
            BC044593.1, BP311042.1, AK097935.1, H09195.1, CD245392.1,
            AL834305.1, AA043704.1 and CA336791.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_152384.2.
            
            Summary: This gene encodes a protein that has been directly linked
            to Bardet-Biedl syndrome. The primary features of this syndrome
            include retinal dystrophy, obesity, polydactyly, renal
            abnormalities and learning disabilities. Experimentation in
            non-human eukaryotes suggests that this gene is expressed in
            ciliated cells and that it is required for the formation of cilia.
            Alternate transcriptional splice variants have been observed but
            have not been fully characterized. [provided by RefSeq, Jul 2008].
            
            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 :: AY604003.1, SRR1803613.43466.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295240.8/ ENSP00000295240.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC093899.3         36900-36901
            3-5                 AY604003.1         17-19
            6-20                BC044593.1         1-15
            21-359              BP311042.1         20-358
            360-788             BC044593.1         355-783
            789-1408            AK097935.1         500-1119
            1409-1410           AC093899.3         62311-62312
            1411-1418           AK097935.1         1122-1129
            1419-1420           H09195.1           518-519
            1421-2066           AK097935.1         1132-1777
            2067-2078           CD245392.1         529-540
            2079-2337           AL834305.1         2068-2326
            2338-2511           AL834305.1         2328-2501
            2512-2513           AA043704.1         254-255
            2514-2994           AK097935.1         2225-2705
            2995-3006           AL834305.1         2985-2996
            3007-3008           AC093899.3         63909-63910
            3009-3157           CA336791.1         146-294
            3158-3159           AL834305.1         3147-3148
FEATURES             Location/Qualifiers
     source          1..3159
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..3159
                     /gene="BBS5"
                     /note="Bardet-Biedl syndrome 5"
                     /db_xref="GeneID:129880"
                     /db_xref="HGNC:HGNC:970"
                     /db_xref="MIM:603650"
     exon            1..119
                     /gene="BBS5"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1086
                     /gene="BBS5"
                     /note="bardet-Biedl syndrome 5 protein"
                     /codon_start=1
                     /product="BBSome complex member BBS5"
                     /protein_id="NP_689597.1"
                     /db_xref="CCDS:CCDS2233.1"
                     /db_xref="GeneID:129880"
                     /db_xref="HGNC:HGNC:970"
                     /db_xref="MIM:603650"
                     /translation="MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNN
                     GDRGRLLVTNLRILWHSLALSRVNVSVGYNCILNITTRTANSKLRGQTEALYILTKCN
                     STRFEFIFTNLVPGSPRLFTSVMAVHRAYETSKMYRDFKLRSALIQNKQLRLLPQEHV
                     YDKINGVWNLSSDQGNLGTFFITNVRIVWHANMNDSFNVSIPYLQIRSIKIRDSKFGL
                     ALVIESSQQSGGYVLGFKIDPVEKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPL
                     EALTVEQIQDDVEIDSDGHTDAFVAYFADGNKQQDREPVFSEELGLAIEKLKDGFTLQ
                     GLWEVMS"
     exon            120..202
                     /gene="BBS5"
                     /inference="alignment:Splign:2.1.0"
     exon            203..268
                     /gene="BBS5"
                     /inference="alignment:Splign:2.1.0"
     exon            269..318
                     /gene="BBS5"
                     /inference="alignment:Splign:2.1.0"
     exon            319..446
                     /gene="BBS5"
                     /inference="alignment:Splign:2.1.0"
     exon            447..582
                     /gene="BBS5"
                     /inference="alignment:Splign:2.1.0"
     exon            583..678
                     /gene="BBS5"
                     /inference="alignment:Splign:2.1.0"
     exon            679..741
                     /gene="BBS5"
                     /inference="alignment:Splign:2.1.0"
     exon            742..876
                     /gene="BBS5"
                     /inference="alignment:Splign:2.1.0"
     exon            877..960
                     /gene="BBS5"
                     /inference="alignment:Splign:2.1.0"
     exon            961..984
                     /gene="BBS5"
                     /inference="alignment:Splign:2.1.0"
     exon            985..3159
                     /gene="BBS5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3137..3142
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS5"
                     /note="hexamer: AATAAA"
     polyA_site      3159
                     /gene="BBS5"
                     /note="major polyA site"
ORIGIN      
        1 agagagacgc agctaggcct gcacggctgt ggagagatcc tgccacgggc cttgttcacc
       61 atgtcggtgc tggatgcgct ttgggaggat cgggatgtcc gtttcgacct gtccgcgcag
      121 caaatgaaaa caagacctgg agaagtcctt attgattgtt tagattccat tgaagacacc
      181 aaaggaaata atggagatag aggtagactc ttggtaacaa atttaagaat tctctggcac
      241 tctttggcat tatcaagagt caatgtttct gtcggttaca attgcatatt gaatattaca
      301 acaaggactg ctaactctaa attacgaggc caaactgaag ctctctatat actaacaaaa
      361 tgtaacagta ctcgttttga atttatattt acaaatttgg ttcctggaag ccctagactt
      421 tttacttctg tgatggcagt acacagagct tatgaaactt ctaaaatgta tcgtgatttt
      481 aaattaagaa gtgcactaat tcagaacaag caactaagac tgttgccaca agaacatgta
      541 tatgataaaa taaatggagt ttggaattta tccagtgatc agggcaattt aggaaccttt
      601 tttattacca atgtgagaat tgtgtggcat gcaaatatga atgatagttt taatgtcagt
      661 ataccatatc tgcaaattcg ttcaataaag attagagatt caaaatttgg tttagctctt
      721 gtcatagaaa gctctcagca gagtggtgga tatgttcttg gctttaaaat agatcctgtg
      781 gaaaaactac aagaatcagt taaggaaatc aattcacttc acaaagtcta ttctgccagt
      841 cccatatttg gagttgatta tgagatggaa gaaaagcccc agccgctcga agctctgaca
      901 gtcgaacaaa ttcaagatga tgtagaaata gactctgatg gtcacacgga tgcttttgtg
      961 gcttattttg ctgatggcaa taagcaacaa gatcgtgaac ctgtattttc agaagaactg
     1021 gggcttgcaa tagagaaatt gaaggatgga ttcaccctac agggactttg ggaagtaatg
     1081 agttgattga ccttgagttg agatggattt ctattaaaga tatctctagt ttaaagatac
     1141 tagtcacctg ccataagtca tggaatagtt tttatattta cagcttttat atttaaaact
     1201 tgtaagagtt tttttaatga ttgaggaaaa agtcatttag aaaacttcag ttttcggcca
     1261 gcgcgtcgag ggaggggcca gcgacacatg gcctagtaac cgtccggccg cggcgctggc
     1321 ttaagccatg gctgagggta gctggattcc tcaggcccgg gcgctcctac agcagtgcct
     1381 gcacgcccgg ctgcaaattc gcccagccaa tggggacgtt gcggcccagt gggtggaggt
     1441 ccaaagagga ctggtgatct acgtgtgctt tttcaaggga gctgataaag aacttcttcc
     1501 caaaatggcc gaagctggac tgtactgctg ccatctctgg ctcactgcaa cctccctgcc
     1561 tgattctcct gcctcagcct gccgagtgcc tgcgattaca ggcgcgcgcc gccacacctg
     1621 actggttttc gtattttttt ggtggagacg gggtttcgct gtgttggccg ggctggtctc
     1681 cagctcctaa ccgcgagtga tccgccagcc tcggcctccc gaggtgccgg gattgcagac
     1741 ggagtctggt tcacttagtg ctcaatggtg cccaggctgg agtgcagtgg cgtgatctcc
     1801 gctcgctaca acctccacct cccagctgcc tgccttggcc tcccgaagtg ccaagagtgc
     1861 agcctctgcc cggccgccac cccgtctggg aagtgaggag cgtctctgcc tggctgccca
     1921 ttgtctggga cgtgagcagc ccctctgcct ggctgcccag tctggaaagt gaggagcgtc
     1981 tctgcccggc cgccatccca tctaggaagt gaggagcgcc tcttcccacc cgccatccca
     2041 tctaggaagt gaggagcttc tctgcctggc cgcccatcgt ctgagatgtg gggagcacct
     2101 ctgcccggcc gcgaccccat ttgggaggtg aggagcaact ctgcccagcc gccccgtctg
     2161 agaagtgagg agaccctccg cctggcaacc gccccgtctg ataagtaagg agcccctctg
     2221 cccagcagcc gccccgtctg agaagtgagg agcccctctg cccagcagcc accctgtctg
     2281 ggaagtgagg agcgtctccg cccggcagcc acccagtccg ggagggaggt gggggggtca
     2341 gtcccccgtc cggccagccg ccccgtccgg gaggtgaggg gcgcctctgc ccagctgccc
     2401 ctactgggaa gtgaggagcc cctctgcccc gccagccacc ccgtccggga gggaggtggg
     2461 ggggtcagcc ccccgcccgg ccagccgccc cgtccgggag ggaggtgggg gatcagcccc
     2521 ccgcccggct agccgccccg tccgggaggc gaggggcgcc tctgcccggc tgcccctact
     2581 gggaagtgag gagcccctct gcccggccag ccgccccgtc caggagggag gtgggggggt
     2641 cagccccccg cccggccagc cgcccggtcc gggagggagg tgggggggtc agccccccgc
     2701 ccggccagcc gccccgtccg ggaggttagg ggcgcctctg cccggccgcc cctactggga
     2761 agtgaggagc ccctctgccc ggccaccacc ccgtctggga ggtgtaccca acagctcatt
     2821 gagagcgggc gatgatgaca gtggcggctt tgtggagtgg aggtgggggg aaggtgggga
     2881 aaagattgag aaatcggatg gttgccgtgt ctgtgtagaa agaagtagac atgggagact
     2941 tttcattttg ttctgtacta agaaaaattc ttaccctaaa acttaaagta taataaaaaa
     3001 aaaaaaactt cagttttcta aaaattatat ttaaaattgt aatcaaaatg tacctagttt
     3061 ataaatgttt attttgtact taatacctgt aaagtcttag ttttcagaca ttaagtgact
     3121 gtatcatgtt cggtttaata aagaatttat gcagcacca
//
