LOCUS       NM_001348045            3808 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 14,
            mRNA.
ACCESSION   NM_001348045
VERSION     NM_001348045.3
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 3808)
  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 3808)
  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 3808)
  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 3808)
  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 3808)
  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 3808)
  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 3808)
  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 3808)
  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 3808)
  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 3808)
  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 Aug 13, 2020 this sequence version replaced NM_001348045.2.
            
            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 SAMEA2149178,
                              SAMEA2155371 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-478               AC074338.1         95155-95632
            479-629             AC074338.1         118292-118442
            630-743             AC074338.1         143069-143182
            744-918             AC007312.1         55738-55912         c
            919-1003            AC007312.1         48774-48858         c
            1004-1187           AC007312.1         39953-40136         c
            1188-1317           AC007312.1         39192-39321         c
            1318-1499           AC087070.2         17170-17351         c
            1500-1576           AC087070.2         12819-12895         c
            1577-1630           AC087070.2         9158-9211           c
            1631-1733           AC087070.2         4622-4724           c
            1734-1838           AC087070.2         2469-2573           c
            1839-1853           AC087070.2         919-933             c
            1854-1994           AC006195.1         145489-145629       c
            1995-2090           AC006195.1         135622-135717       c
            2091-2263           AC006195.1         119646-119818       c
            2264-2416           AC006195.1         115340-115492       c
            2417-2599           AC078833.5         125332-125514       c
            2600-2822           AC078833.5         96801-97023         c
            2823-2933           AC078833.5         26002-26112         c
            2934-3808           AC078833.5         24908-25782         c
FEATURES             Location/Qualifiers
     source          1..3808
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..3808
                     /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..478
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            479..629
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            630..743
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             668..2965
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="isoform 13 is encoded by transcript variant 14;
                     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 13"
                     /protein_id="NP_001334974.1"
                     /db_xref="CCDS:CCDS94082.1"
                     /db_xref="GeneID:27241"
                     /db_xref="HGNC:HGNC:30000"
                     /db_xref="MIM:607968"
                     /translation="MKLMYEHNLQRTACNMTYGSFGGVKGRDLICIQSMDGMLMVFEQ
                     ESYAFGRFLPGFLLPGPLAYSSRTDSFLTVSSCQQVESYKYQVLAFATDADKRQETEQ
                     QKLGSGKRLVVDWTLNIGEQALDICIVSFNQSASSVFVLGERNFFCLKDNGQIRFMKK
                     LDWSPSCFLPYCSVSEGTINTLIGNHNNMLHIYQDVTLKWATQLPHIPVAVRVGCLHD
                     LKGVIVTLSDDGHLQCSYLGTDPSLFQAPNVQSRELNYDELDVEMKELQKIIKDVNKS
                     QGVWPMTEREDDLNVSVVVSPNFDSVSQATDVEVGTDLVPSVTVKVTLQNRVILQKAK
                     LSVYVQPPLELTCDQFTFEFMTPDLTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTDR
                     NPDGIPRVIQCKFRLPLKLICLPGQPSKTASHKITIDTNKSPVSLLSLFPGFASQSDD
                     DQVNVMGFHFLGGARITVLASKTSQRYRIQSEQFEDLWLITNELILRLQEYFEKQGVK
                     DFACSFSGSIPLQEYFELIDHHFELRINGEKLEELLSERAVQFRAIQRRLLARFKDKT
                     PAPLQHLDTLLDGTYKQVIALADAVEENQGNLFQSFTRLKSATHLVILLIALWQKLSA
                     DQVAILEAAFLPLQEDTQELGWEETVDAAISHLLKTCLSKSSKEQALNLNSQLNIPKD
                     TSQLKKHITLLCDRLSKGGRLCLSTDAAAPQTMVMPGGCTTIPESDLEERSVEQDSTE
                     LFTNHRHLTAETPRPEVSPLQGVSE"
     exon            744..918
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1003
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1187
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1188..1317
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1318..1499
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..1576
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1577..1630
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1631..1733
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1734..1838
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1839..1853
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1854..1994
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1995..2090
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2091..2263
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2264..2416
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2417..2599
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2600..2822
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2823..2933
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2934..3808
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3347..3352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: AATAAA"
     polyA_site      3371
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="major polyA site"
     regulatory      3499..3504
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: AATAAA"
     polyA_site      3523
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
     regulatory      3784..3789
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: AATAAA"
     polyA_site      3808
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
ORIGIN      
        1 gacaacaggg cgaagatggc tcagagttag gctggagagg ggaggtgtcc cttccgctgc
       61 ggccgtcggg tttctgctac atcccattca ccgcctcctc catcctttcc tcctcggtgt
      121 gagcagcagg acttgcattt gttctcgcct gcctagtgtc ttccaaggga tagatgccgt
      181 ttcctctgct ggtctctggg ggtgacgggg ggcgcagggg agcttcttgg gggaatcact
      241 ccaactctgt ggagctggtg gtgctgcctg gtggggctct ctctttgccc gggacgtgga
      301 acaactttca gctggaggac gagagggaat agtgaagcta aaggttgctt ttctctgcac
      361 cgtccgttct tgctccctct gctccatcac tgggaccttg tcaggcgttc ataaagcaaa
      421 atttgccgaa cgagggttcg cagaaaggtg gggcagagct catctgacgt ggcatcagat
      481 aaaataattg tgggtagctt tatgggatac ctaaggatct ttagccccca tcctgcaaaa
      541 acaggagatg gagctcaagc cgaagatttg cttctagaag tggatctacg agatccagta
      601 cttcaagtgg aagtaggaaa gtttgtttcg aaccttgggt aatgtggaac atgggaacca
      661 atgtcagatg aaattgatgt atgaacataa tcttcagaga acagcctgca atatgaccta
      721 tggatcattt ggtggtgtaa aaggtcgaga tttaatttgc atccagtcta tggatgggat
      781 gctgatggta tttgagcagg agagctatgc ttttggaaga tttctccctg gctttcttct
      841 gcctggtcct cttgcctaca gttcccgtac agattccttc cttactgtct cttcctgcca
      901 acaagtggaa agttataagt accaggtact tgcttttgca acagatgcag ataaaaggca
      961 ggagactgaa cagcaaaaac ttggttctgg aaaaagacta gttgtggatt ggactctaaa
     1021 tattggagag caagcccttg acatatgtat tgtctctttc aatcagtcgg catcctctgt
     1081 ttttgttctt ggtgagagaa actttttttg ccttaaggat aatggacaaa ttcgattcat
     1141 gaagaagctt gattggagcc caagttgttt tctgccatat tgctcagttt ctgaaggaac
     1201 aataaatact ttgattggaa atcataataa catgctgcat atttatcaag atgtgacact
     1261 gaagtgggcc acccaacttc cccacattcc tgtagcagta agagtgggct gtttgcatga
     1321 tttaaaggga gtgatagtca ctctgagtga tgatggtcac ttgcagtgtt catacctggg
     1381 gacagatcct tctctgttcc aagctccaaa cgttcaatct cgagaactaa actatgatga
     1441 acttgatgta gaaatgaaag aacttcagaa aatcatcaaa gatgttaaca aatcacaagg
     1501 tgtttggccc atgactgaga gagaagatga cttgaacgtt tctgtcgtgg tttctcctaa
     1561 ctttgattca gtttctcaag cgaccgatgt tgaggtggga actgaccttg tcccttctgt
     1621 cacggtgaag gtcacactgc agaacagagt gatattgcaa aaagccaaat tatcagtcta
     1681 cgtgcaacca ccattagaat tgacttgtga tcagttcacc tttgaattta tgacaccaga
     1741 tttgactaga acagtaagct tttctgttta tctgaaaaga agttatacac catcagaatt
     1801 ggaaggaaat gctgttgttt cttattccag accaacagat cgaaatcctg atggcattcc
     1861 gcgagttatc caatgtaaat ttagacttcc cctaaagtta atttgcctac caggtcagcc
     1921 ttcaaaaact gcaagccaca aaattactat tgataccaac aaatctccag tcagtcttct
     1981 tagtctcttc ccaggttttg ccagtcagtc agatgatgat caggtgaatg taatgggttt
     2041 tcacttctta ggaggtgctc gaattactgt tcttgcttcc aaaacttctc aacgatatcg
     2101 cattcagagt gaacaatttg aagatctttg gctcataacc aatgagctta ttcttcgcct
     2161 tcaagaatat tttgaaaaac agggagtcaa agattttgca tgttcttttt cgggatctat
     2221 accccttcaa gaatattttg agttgattga tcatcatttt gagctacgga taaatggtga
     2281 aaaattagaa gaactcttat ctgagagagc tgtacaattt cgggccattc aacgccggct
     2341 actagcaaga ttcaaagata aaactcctgc ccctcttcaa cacctggaca ccttgttaga
     2401 tggaacctac aagcaggtaa ttgctctagc agatgcagtg gaggaaaacc aaggcaatct
     2461 gttccagtca ttcaccaggc tgaagagtgc cacccatttg gtgattctgc tgatcgcgct
     2521 gtggcagaag cttagtgctg accaggttgc tattctggaa gcggcatttc tgccgctaca
     2581 agaagacact caagaattgg gctgggaaga aacggtggat gccgccattt cccacctgtt
     2641 gaagacttgc ctgtcgaaga gttctaagga gcaggctttg aacctcaaca gccagctgaa
     2701 catacccaaa gacacaagcc aactgaagaa acatatcacc ttgctctgcg atagattatc
     2761 caaaggtggc cgtctctgcc taagtaccga tgcagcagcc ccacagacca tggtcatgcc
     2821 aggtggttgt actacaatcc cagagtcaga cctagaagaa agatcagtag aacaagactc
     2881 tacagaactg tttaccaacc acagacatct cactgcagag acacccaggc ctgaagtttc
     2941 acccctccaa ggagtctcgg aataattcaa gtagagttgt ttggttgaga ggaacatccc
     3001 catctcaagg ccgaacctgt gtgaacctca tgccaagcac agatataggg ctggcgcagg
     3061 tgcttcctaa agctcacctt cctggagatg acatgcatag aaagaggggt tgggactttt
     3121 tacttcacta ggagaacttg taacaccatg gggaagtcag ctgaaacttg tcttgttttg
     3181 ccaggaaagg aagtagttgc ctttggtcat ccatctgcta atagtcacag aatacagtga
     3241 aatgacatag ttttgggtta gattttataa tgcaaagatt cagatccaaa ataatttcat
     3301 accccatttt ttcacagaat tcttatatag taaatgtatc aagtttaata aagcatctca
     3361 ttgtcaaata atatcttgga ttttatttat aattagaggg atttatgagt gattgctcta
     3421 cattatttct tcaaaggaaa ggaaaggaat tgaagacttt gctactctct ggtaagactt
     3481 gaatgtgatt attttataaa taaaagaacc actatgaaac tttcatgtga tttgttctat
     3541 taagctaaac gtggaagaag ggaagttttc tagtattgta tgaaaatgtt taaatatttt
     3601 caaggaagct agtacattaa catccccttt tcattacccc attgggtggc accttttaaa
     3661 aatccaggtt attaaaggat tcacacttta ttacagttaa aatttaaggt ttttatgtgt
     3721 aagaagtgaa agaaactttg ctaatttcaa gttcgaatta cagttgtgag attgatttat
     3781 ttaaataaaa atatgccttt gccagttt
//
