LOCUS       NM_001348046            3657 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 15,
            mRNA.
ACCESSION   NM_001348046
VERSION     NM_001348046.3
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 3657)
  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 3657)
  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 3657)
  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 3657)
  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 3657)
  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 3657)
  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 3657)
  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 3657)
  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 3657)
  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 3657)
  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_001348046.2.
            
            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 SAMEA2144120,
                              SAMEA2145240 [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
            479-592             AC074338.1         143069-143182
            593-767             AC007312.1         55738-55912         c
            768-852             AC007312.1         48774-48858         c
            853-1036            AC007312.1         39953-40136         c
            1037-1166           AC007312.1         39192-39321         c
            1167-1348           AC087070.2         17170-17351         c
            1349-1425           AC087070.2         12819-12895         c
            1426-1479           AC087070.2         9158-9211           c
            1480-1582           AC087070.2         4622-4724           c
            1583-1687           AC087070.2         2469-2573           c
            1688-1702           AC087070.2         919-933             c
            1703-1843           AC006195.1         145489-145629       c
            1844-1939           AC006195.1         135622-135717       c
            1940-2112           AC006195.1         119646-119818       c
            2113-2265           AC006195.1         115340-115492       c
            2266-2448           AC078833.5         125332-125514       c
            2449-2671           AC078833.5         96801-97023         c
            2672-2782           AC078833.5         26002-26112         c
            2783-3657           AC078833.5         24908-25782         c
FEATURES             Location/Qualifiers
     source          1..3657
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..3657
                     /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..592
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             517..2814
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="isoform 13 is encoded by transcript variant 15;
                     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_001334975.1"
                     /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            593..767
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            768..852
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            853..1036
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1166
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1167..1348
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..1425
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1426..1479
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1480..1582
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1583..1687
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1688..1702
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1703..1843
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1844..1939
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1940..2112
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2113..2265
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2266..2448
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2449..2671
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2672..2782
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2783..3657
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3196..3201
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: AATAAA"
     polyA_site      3220
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="major polyA site"
     regulatory      3348..3353
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: AATAAA"
     polyA_site      3372
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
     regulatory      3633..3638
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: AATAAA"
     polyA_site      3657
                     /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 ggcatcagga
      481 accttgggta atgtggaaca tgggaaccaa tgtcagatga aattgatgta tgaacataat
      541 cttcagagaa cagcctgcaa tatgacctat ggatcatttg gtggtgtaaa aggtcgagat
      601 ttaatttgca tccagtctat ggatgggatg ctgatggtat ttgagcagga gagctatgct
      661 tttggaagat ttctccctgg ctttcttctg cctggtcctc ttgcctacag ttcccgtaca
      721 gattccttcc ttactgtctc ttcctgccaa caagtggaaa gttataagta ccaggtactt
      781 gcttttgcaa cagatgcaga taaaaggcag gagactgaac agcaaaaact tggttctgga
      841 aaaagactag ttgtggattg gactctaaat attggagagc aagcccttga catatgtatt
      901 gtctctttca atcagtcggc atcctctgtt tttgttcttg gtgagagaaa ctttttttgc
      961 cttaaggata atggacaaat tcgattcatg aagaagcttg attggagccc aagttgtttt
     1021 ctgccatatt gctcagtttc tgaaggaaca ataaatactt tgattggaaa tcataataac
     1081 atgctgcata tttatcaaga tgtgacactg aagtgggcca cccaacttcc ccacattcct
     1141 gtagcagtaa gagtgggctg tttgcatgat ttaaagggag tgatagtcac tctgagtgat
     1201 gatggtcact tgcagtgttc atacctgggg acagatcctt ctctgttcca agctccaaac
     1261 gttcaatctc gagaactaaa ctatgatgaa cttgatgtag aaatgaaaga acttcagaaa
     1321 atcatcaaag atgttaacaa atcacaaggt gtttggccca tgactgagag agaagatgac
     1381 ttgaacgttt ctgtcgtggt ttctcctaac tttgattcag tttctcaagc gaccgatgtt
     1441 gaggtgggaa ctgaccttgt cccttctgtc acggtgaagg tcacactgca gaacagagtg
     1501 atattgcaaa aagccaaatt atcagtctac gtgcaaccac cattagaatt gacttgtgat
     1561 cagttcacct ttgaatttat gacaccagat ttgactagaa cagtaagctt ttctgtttat
     1621 ctgaaaagaa gttatacacc atcagaattg gaaggaaatg ctgttgtttc ttattccaga
     1681 ccaacagatc gaaatcctga tggcattccg cgagttatcc aatgtaaatt tagacttccc
     1741 ctaaagttaa tttgcctacc aggtcagcct tcaaaaactg caagccacaa aattactatt
     1801 gataccaaca aatctccagt cagtcttctt agtctcttcc caggttttgc cagtcagtca
     1861 gatgatgatc aggtgaatgt aatgggtttt cacttcttag gaggtgctcg aattactgtt
     1921 cttgcttcca aaacttctca acgatatcgc attcagagtg aacaatttga agatctttgg
     1981 ctcataacca atgagcttat tcttcgcctt caagaatatt ttgaaaaaca gggagtcaaa
     2041 gattttgcat gttctttttc gggatctata ccccttcaag aatattttga gttgattgat
     2101 catcattttg agctacggat aaatggtgaa aaattagaag aactcttatc tgagagagct
     2161 gtacaatttc gggccattca acgccggcta ctagcaagat tcaaagataa aactcctgcc
     2221 cctcttcaac acctggacac cttgttagat ggaacctaca agcaggtaat tgctctagca
     2281 gatgcagtgg aggaaaacca aggcaatctg ttccagtcat tcaccaggct gaagagtgcc
     2341 acccatttgg tgattctgct gatcgcgctg tggcagaagc ttagtgctga ccaggttgct
     2401 attctggaag cggcatttct gccgctacaa gaagacactc aagaattggg ctgggaagaa
     2461 acggtggatg ccgccatttc ccacctgttg aagacttgcc tgtcgaagag ttctaaggag
     2521 caggctttga acctcaacag ccagctgaac atacccaaag acacaagcca actgaagaaa
     2581 catatcacct tgctctgcga tagattatcc aaaggtggcc gtctctgcct aagtaccgat
     2641 gcagcagccc cacagaccat ggtcatgcca ggtggttgta ctacaatccc agagtcagac
     2701 ctagaagaaa gatcagtaga acaagactct acagaactgt ttaccaacca cagacatctc
     2761 actgcagaga cacccaggcc tgaagtttca cccctccaag gagtctcgga ataattcaag
     2821 tagagttgtt tggttgagag gaacatcccc atctcaaggc cgaacctgtg tgaacctcat
     2881 gccaagcaca gatatagggc tggcgcaggt gcttcctaaa gctcaccttc ctggagatga
     2941 catgcataga aagaggggtt gggacttttt acttcactag gagaacttgt aacaccatgg
     3001 ggaagtcagc tgaaacttgt cttgttttgc caggaaagga agtagttgcc tttggtcatc
     3061 catctgctaa tagtcacaga atacagtgaa atgacatagt tttgggttag attttataat
     3121 gcaaagattc agatccaaaa taatttcata ccccattttt tcacagaatt cttatatagt
     3181 aaatgtatca agtttaataa agcatctcat tgtcaaataa tatcttggat tttatttata
     3241 attagaggga tttatgagtg attgctctac attatttctt caaaggaaag gaaaggaatt
     3301 gaagactttg ctactctctg gtaagacttg aatgtgatta ttttataaat aaaagaacca
     3361 ctatgaaact ttcatgtgat ttgttctatt aagctaaacg tggaagaagg gaagttttct
     3421 agtattgtat gaaaatgttt aaatattttc aaggaagcta gtacattaac atcccctttt
     3481 cattacccca ttgggtggca ccttttaaaa atccaggtta ttaaaggatt cacactttat
     3541 tacagttaaa atttaaggtt tttatgtgta agaagtgaaa gaaactttgc taatttcaag
     3601 ttcgaattac agttgtgaga ttgatttatt taaataaaaa tatgcctttg ccagttt
//
