LOCUS       NM_001348036            3785 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 5,
            mRNA.
ACCESSION   NM_001348036 XM_017011991
VERSION     NM_001348036.1
KEYWORDS    RefSeq.
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 3785)
  AUTHORS   Zhang,Y., Xu,M., Zhang,M., Yang,G. and Li,X.
  TITLE     A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a
            Chinese Family with Bardet-Biedl Syndrome
  JOURNAL   Biomed Res Int 2021, 4514967 (2021)
   PUBMED   34692830
  REMARK    GeneRIF: A Novel BBS9 Mutation Identified via Whole-Exome
            Sequencing in a Chinese Family with Bardet-Biedl Syndrome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3785)
  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   3  (bases 1 to 3785)
  AUTHORS   Jeziorny,K., Antosik,K., Jakiel,P., Mlynarski,W., Borowiec,M. and
            Zmyslowska,A.
  TITLE     Next-Generation Sequencing in the Diagnosis of Patients with
            Bardet-Biedl Syndrome-New Variants and Relationship with
            Hyperglycemia and Insulin Resistance
  JOURNAL   Genes (Basel) 11 (11), 1283 (2020)
   PUBMED   33138063
  REMARK    GeneRIF: Next-Generation Sequencing in the Diagnosis of Patients
            with Bardet-Biedl Syndrome-New Variants and Relationship with
            Hyperglycemia and Insulin Resistance.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3785)
  AUTHORS   Ludlam,W.G., Aoba,T., Cuellar,J., Bueno-Carrasco,M.T., Makaju,A.,
            Moody,J.D., Franklin,S., Valpuesta,J.M. and Willardson,B.M.
  TITLE     Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9
            subcomplex
  JOURNAL   J Biol Chem 294 (44), 16385-16399 (2019)
   PUBMED   31530639
  REMARK    GeneRIF: Authors found that within this structure, BBS2 and BBS7
            form a tight dimer through a coiled-coil interaction and that BBS9
            associates with the dimer via an interaction with the alpha-helical
            domain of BBS2. Interestingly, a BBS-associated mutation of BBS2 is
            located in its alpha-helical domain at the interface between BBS2
            and BBS9, and binding experiments indicated that this mutation
            disrupts the BBS2-BBS9 interaction.
REFERENCE   5  (bases 1 to 3785)
  AUTHORS   Nachury,M.V., Loktev,A.V., Zhang,Q., Westlake,C.J., Peranen,J.,
            Merdes,A., Slusarski,D.C., Scheller,R.H., Bazan,J.F.,
            Sheffield,V.C. and Jackson,P.K.
  TITLE     A core complex of BBS proteins cooperates with the GTPase Rab8 to
            promote ciliary membrane biogenesis
  JOURNAL   Cell 129 (6), 1201-1213 (2007)
   PUBMED   17574030
REFERENCE   6  (bases 1 to 3785)
  AUTHORS   Nishimura,D.Y., Swiderski,R.E., Searby,C.C., Berg,E.M.,
            Ferguson,A.L., Hennekam,R., Merin,S., Weleber,R.G., Biesecker,L.G.,
            Stone,E.M. and Sheffield,V.C.
  TITLE     Comparative genomics and gene expression analysis identifies BBS9,
            a new Bardet-Biedl syndrome gene
  JOURNAL   Am J Hum Genet 77 (6), 1021-1033 (2005)
   PUBMED   16380913
  REMARK    GeneRIF: Comparative genomics and gene expression analysis
            identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene.
REFERENCE   7  (bases 1 to 3785)
  AUTHORS   Vernon,E.G., Malik,K., Reynolds,P., Powlesland,R., Dallosso,A.R.,
            Jackson,S., Henthorn,K., Green,E.D. and Brown,K.W.
  TITLE     The parathyroid hormone-responsive B1 gene is interrupted by a
            t(1;7)(q42;p15) breakpoint associated with Wilms' tumour
  JOURNAL   Oncogene 22 (9), 1371-1380 (2003)
   PUBMED   12618763
  REMARK    GeneRIF: gene is interrupted by a t(1;7)(q42;p15) breakpoint
            associated with Wilms' tumour; new alternately spliced isoforms
            were found in a wide range of adult and foetal tissues
REFERENCE   8  (bases 1 to 3785)
  AUTHORS   Adams,A.E., Rosenblatt,M. and Suva,L.J.
  TITLE     Identification of a novel parathyroid hormone-responsive gene in
            human osteoblastic cells
  JOURNAL   Bone 24 (4), 305-313 (1999)
   PUBMED   10221542
REFERENCE   9  (bases 1 to 3785)
  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 3785)
  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 AC074338.1, AC007312.1,
            AC087070.2, AC006195.1 and AC078833.5.
            
            On Jan 4, 2017 this sequence version replaced XM_017011991.1.
            
            Summary: This gene is downregulated by parathyroid hormone in
            osteoblastic cells, and therefore is thought to be involved in
            parathyroid hormone action in bones. The exact function of this
            gene has not yet been determined. Alternatively spliced transcript
            variants encoding different isoforms have been identified.
            [provided by RefSeq, Jan 2017].
            
            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##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-268               AC074338.1         94876-95143
            269-391             AC074338.1         111833-111955
            392-542             AC074338.1         118292-118442
            543-607             AC074338.1         121229-121293
            608-721             AC074338.1         143069-143182
            722-896             AC007312.1         55738-55912         c
            897-981             AC007312.1         48774-48858         c
            982-1165            AC007312.1         39953-40136         c
            1166-1295           AC007312.1         39192-39321         c
            1296-1477           AC087070.2         17170-17351         c
            1478-1554           AC087070.2         12819-12895         c
            1555-1608           AC087070.2         9158-9211           c
            1609-1711           AC087070.2         4622-4724           c
            1712-1816           AC087070.2         2469-2573           c
            1817-1831           AC087070.2         919-933             c
            1832-1972           AC006195.1         145489-145629       c
            1973-2068           AC006195.1         135622-135717       c
            2069-2241           AC006195.1         119646-119818       c
            2242-2394           AC006195.1         115340-115492       c
            2395-2577           AC078833.5         125332-125514       c
            2578-2800           AC078833.5         96801-97023         c
            2801-2911           AC078833.5         26002-26112         c
            2912-3785           AC078833.5         24909-25782         c
FEATURES             Location/Qualifiers
     source          1..3785
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..3785
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="Bardet-Biedl syndrome 9"
                     /db_xref="GeneID:27241"
                     /db_xref="HGNC:HGNC:30000"
                     /db_xref="MIM:607968"
     exon            1..268
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            269..391
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             280..2943
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="isoform 2 is encoded by transcript variant 5;
                     protein PTHB1; PTH-responsive osteosarcoma B1 protein;
                     bardet-Biedl syndrome 9 protein; parathyroid
                     hormone-responsive B1 gene protein"
                     /codon_start=1
                     /product="protein PTHB1 isoform 2"
                     /protein_id="NP_001334965.1"
                     /db_xref="CCDS:CCDS43566.1"
                     /db_xref="GeneID:27241"
                     /db_xref="HGNC:HGNC:30000"
                     /db_xref="MIM:607968"
                     /translation="MSLFKARDWWSTILGDKEEFDQGCLCLANVDNSGNGQDKIIVGS
                     FMGYLRIFSPHPAKTGDGAQAEDLLLEVDLRDPVLQVEVGKFVSGTEMLHLAVLHSRK
                     LCVYSVSGTLGNVEHGNQCQMKLMYEHNLQRTACNMTYGSFGGVKGRDLICIQSMDGM
                     LMVFEQESYAFGRFLPGFLLPGPLAYSSRTDSFLTVSSCQQVESYKYQVLAFATDADK
                     RQETEQQKLGSGKRLVVDWTLNIGEQALDICIVSFNQSASSVFVLGERNFFCLKDNGQ
                     IRFMKKLDWSPSCFLPYCSVSEGTINTLIGNHNNMLHIYQDVTLKWATQLPHIPVAVR
                     VGCLHDLKGVIVTLSDDGHLQCSYLGTDPSLFQAPNVQSRELNYDELDVEMKELQKII
                     KDVNKSQGVWPMTEREDDLNVSVVVSPNFDSVSQATDVEVGTDLVPSVTVKVTLQNRV
                     ILQKAKLSVYVQPPLELTCDQFTFEFMTPDLTRTVSFSVYLKRSYTPSELEGNAVVSY
                     SRPTDRNPDGIPRVIQCKFRLPLKLICLPGQPSKTASHKITIDTNKSPVSLLSLFPGF
                     ASQSDDDQVNVMGFHFLGGARITVLASKTSQRYRIQSEQFEDLWLITNELILRLQEYF
                     EKQGVKDFACSFSGSIPLQEYFELIDHHFELRINGEKLEELLSERAVQFRAIQRRLLA
                     RFKDKTPAPLQHLDTLLDGTYKQVIALADAVEENQGNLFQSFTRLKSATHLVILLIAL
                     WQKLSADQVAILEAAFLPLQEDTQELGWEETVDAAISHLLKTCLSKSSKEQALNLNSQ
                     LNIPKDTSQLKKHITLLCDRLSKGGRLCLSTDAAAPQTMVMPGGCTTIPESDLEERSV
                     EQDSTELFTNHRHLTAETPRPEVSPLQGVSE"
     exon            392..542
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            543..607
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            608..721
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            722..896
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            897..981
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1165
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1295
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..1477
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1478..1554
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1555..1608
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1609..1711
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1712..1816
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1817..1831
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1832..1972
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1973..2068
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2069..2241
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2242..2394
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2395..2577
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2578..2800
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2801..2911
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2912..3785
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3325..3330
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: AATAAA"
     polyA_site      3349
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="major polyA site"
     regulatory      3477..3482
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: AATAAA"
     polyA_site      3501
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
ORIGIN      
        1 gggggggcgt ggcctgcccc cggagcccag gcaggaggag ggtcttcctt aaggaactgc
       61 tgccaggaca gggcagagga ttgcagtaat tatcactctc tgctaatgag gaccaggccg
      121 tggttcactc gagccccgcc ccagtagcaa tctaattcca accgcggccc tctcagaagt
      181 cggtccccgc ctttgcgcct cagcctctct ggactccagc ccccagaagt cggcgcggca
      241 cggcgtgacc tgcgcagtgg cgtccgtttg tgaaagaaaa tgtctttatt taaagcccgt
      301 gattggtggt ctactattct gggagataaa gaagaatttg atcaaggctg tttgtgtctg
      361 gctaatgttg acaatagtgg aaatggacaa gataaaataa ttgtgggtag ctttatggga
      421 tacctaagga tctttagccc ccatcctgca aaaacaggag atggagctca agccgaagat
      481 ttgcttctag aagtggatct acgagatcca gtacttcaag tggaagtagg aaagtttgtt
      541 tcaggtaccg aaatgctaca tttggctgtg ttacattcta gaaaactttg tgtctactct
      601 gtctcaggaa ccttgggtaa tgtggaacat gggaaccaat gtcagatgaa attgatgtat
      661 gaacataatc ttcagagaac agcctgcaat atgacctatg gatcatttgg tggtgtaaaa
      721 ggtcgagatt taatttgcat ccagtctatg gatgggatgc tgatggtatt tgagcaggag
      781 agctatgctt ttggaagatt tctccctggc tttcttctgc ctggtcctct tgcctacagt
      841 tcccgtacag attccttcct tactgtctct tcctgccaac aagtggaaag ttataagtac
      901 caggtacttg cttttgcaac agatgcagat aaaaggcagg agactgaaca gcaaaaactt
      961 ggttctggaa aaagactagt tgtggattgg actctaaata ttggagagca agcccttgac
     1021 atatgtattg tctctttcaa tcagtcggca tcctctgttt ttgttcttgg tgagagaaac
     1081 tttttttgcc ttaaggataa tggacaaatt cgattcatga agaagcttga ttggagccca
     1141 agttgttttc tgccatattg ctcagtttct gaaggaacaa taaatacttt gattggaaat
     1201 cataataaca tgctgcatat ttatcaagat gtgacactga agtgggccac ccaacttccc
     1261 cacattcctg tagcagtaag agtgggctgt ttgcatgatt taaagggagt gatagtcact
     1321 ctgagtgatg atggtcactt gcagtgttca tacctgggga cagatccttc tctgttccaa
     1381 gctccaaacg ttcaatctcg agaactaaac tatgatgaac ttgatgtaga aatgaaagaa
     1441 cttcagaaaa tcatcaaaga tgttaacaaa tcacaaggtg tttggcccat gactgagaga
     1501 gaagatgact tgaacgtttc tgtcgtggtt tctcctaact ttgattcagt ttctcaagcg
     1561 accgatgttg aggtgggaac tgaccttgtc ccttctgtca cggtgaaggt cacactgcag
     1621 aacagagtga tattgcaaaa agccaaatta tcagtctacg tgcaaccacc attagaattg
     1681 acttgtgatc agttcacctt tgaatttatg acaccagatt tgactagaac agtaagcttt
     1741 tctgtttatc tgaaaagaag ttatacacca tcagaattgg aaggaaatgc tgttgtttct
     1801 tattccagac caacagatcg aaatcctgat ggcattccgc gagttatcca atgtaaattt
     1861 agacttcccc taaagttaat ttgcctacca ggtcagcctt caaaaactgc aagccacaaa
     1921 attactattg ataccaacaa atctccagtc agtcttctta gtctcttccc aggttttgcc
     1981 agtcagtcag atgatgatca ggtgaatgta atgggttttc acttcttagg aggtgctcga
     2041 attactgttc ttgcttccaa aacttctcaa cgatatcgca ttcagagtga acaatttgaa
     2101 gatctttggc tcataaccaa tgagcttatt cttcgccttc aagaatattt tgaaaaacag
     2161 ggagtcaaag attttgcatg ttctttttcg ggatctatac cccttcaaga atattttgag
     2221 ttgattgatc atcattttga gctacggata aatggtgaaa aattagaaga actcttatct
     2281 gagagagctg tacaatttcg ggccattcaa cgccggctac tagcaagatt caaagataaa
     2341 actcctgccc ctcttcaaca cctggacacc ttgttagatg gaacctacaa gcaggtaatt
     2401 gctctagcag atgcagtgga ggaaaaccaa ggcaatctgt tccagtcatt caccaggctg
     2461 aagagtgcca cccatttggt gattctgctg atcgcgctgt ggcagaagct tagtgctgac
     2521 caggttgcta ttctggaagc ggcatttctg ccgctacaag aagacactca agaattgggc
     2581 tgggaagaaa cggtggatgc cgccatttcc cacctgttga agacttgcct gtcgaagagt
     2641 tctaaggagc aggctttgaa cctcaacagc cagctgaaca tacccaaaga cacaagccaa
     2701 ctgaagaaac atatcacctt gctctgcgat agattatcca aaggtggccg tctctgccta
     2761 agtaccgatg cagcagcccc acagaccatg gtcatgccag gtggttgtac tacaatccca
     2821 gagtcagacc tagaagaaag atcagtagaa caagactcta cagaactgtt taccaaccac
     2881 agacatctca ctgcagagac acccaggcct gaagtttcac ccctccaagg agtctcggaa
     2941 taattcaagt agagttgttt ggttgagagg aacatcccca tctcaaggcc gaacctgtgt
     3001 gaacctcatg ccaagcacag atatagggct ggcgcaggtg cttcctaaag ctcaccttcc
     3061 tggagatgac atgcatagaa agaggggttg ggacttttta cttcactagg agaacttgta
     3121 acaccatggg gaagtcagct gaaacttgtc ttgttttgcc aggaaaggaa gtagttgcct
     3181 ttggtcatcc atctgctaat agtcacagaa tacagtgaaa tgacatagtt ttgggttaga
     3241 ttttataatg caaagattca gatccaaaat aatttcatac cccatttttt cacagaattc
     3301 ttatatagta aatgtatcaa gtttaataaa gcatctcatt gtcaaataat atcttggatt
     3361 ttatttataa ttagagggat ttatgagtga ttgctctaca ttatttcttc aaaggaaagg
     3421 aaaggaattg aagactttgc tactctctgg taagacttga atgtgattat tttataaata
     3481 aaagaaccac tatgaaactt tcatgtgatt tgttctatta agctaaacgt ggaagaaggg
     3541 aagttttcta gtattgtatg aaaatgttta aatattttca aggaagctag tacattaaca
     3601 tccccttttc attaccccat tgggtggcac cttttaaaaa tccaggttat taaaggattc
     3661 acactttatt acagttaaaa tttaaggttt ttatgtgtaa gaagtgaaag aaactttgct
     3721 aatttcaagt tcgaattaca gttgtgagat tgatttattt aaataaaaat atgcctttgc
     3781 cagtt
//
