LOCUS       NM_001348042            3873 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 11,
            mRNA.
ACCESSION   NM_001348042
VERSION     NM_001348042.3
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 3873)
  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 3873)
  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 3873)
  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 3873)
  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 3873)
  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 3873)
  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 3873)
  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 3873)
  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 3873)
  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 3873)
  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_001348042.2.
            
            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 SAMEA1968189,
                              SAMEA2142670 [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
            630-694             AC074338.1         121229-121293
            695-808             AC074338.1         143069-143182
            809-983             AC007312.1         55738-55912         c
            984-1068            AC007312.1         48774-48858         c
            1069-1252           AC007312.1         39953-40136         c
            1253-1382           AC007312.1         39192-39321         c
            1383-1564           AC087070.2         17170-17351         c
            1565-1641           AC087070.2         12819-12895         c
            1642-1695           AC087070.2         9158-9211           c
            1696-1798           AC087070.2         4622-4724           c
            1799-1903           AC087070.2         2469-2573           c
            1904-1918           AC087070.2         919-933             c
            1919-2059           AC006195.1         145489-145629       c
            2060-2155           AC006195.1         135622-135717       c
            2156-2328           AC006195.1         119646-119818       c
            2329-2481           AC006195.1         115340-115492       c
            2482-2664           AC078833.5         125332-125514       c
            2665-2887           AC078833.5         96801-97023         c
            2888-2998           AC078833.5         26002-26112         c
            2999-3873           AC078833.5         24908-25782         c
FEATURES             Location/Qualifiers
     source          1..3873
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..3873
                     /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"
     CDS             502..3030
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="isoform 10 is encoded by transcript variant 11;
                     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 10"
                     /protein_id="NP_001334971.1"
                     /db_xref="CCDS:CCDS94081.1"
                     /db_xref="GeneID:27241"
                     /db_xref="HGNC:HGNC:30000"
                     /db_xref="MIM:607968"
                     /translation="MGYLRIFSPHPAKTGDGAQAEDLLLEVDLRDPVLQVEVGKFVSG
                     TEMLHLAVLHSRKLCVYSVSGTLGNVEHGNQCQMKLMYEHNLQRTACNMTYGSFGGVK
                     GRDLICIQSMDGMLMVFEQESYAFGRFLPGFLLPGPLAYSSRTDSFLTVSSCQQVESY
                     KYQVLAFATDADKRQETEQQKLGSGKRLVVDWTLNIGEQALDICIVSFNQSASSVFVL
                     GERNFFCLKDNGQIRFMKKLDWSPSCFLPYCSVSEGTINTLIGNHNNMLHIYQDVTLK
                     WATQLPHIPVAVRVGCLHDLKGVIVTLSDDGHLQCSYLGTDPSLFQAPNVQSRELNYD
                     ELDVEMKELQKIIKDVNKSQGVWPMTEREDDLNVSVVVSPNFDSVSQATDVEVGTDLV
                     PSVTVKVTLQNRVILQKAKLSVYVQPPLELTCDQFTFEFMTPDLTRTVSFSVYLKRSY
                     TPSELEGNAVVSYSRPTDRNPDGIPRVIQCKFRLPLKLICLPGQPSKTASHKITIDTN
                     KSPVSLLSLFPGFASQSDDDQVNVMGFHFLGGARITVLASKTSQRYRIQSEQFEDLWL
                     ITNELILRLQEYFEKQGVKDFACSFSGSIPLQEYFELIDHHFELRINGEKLEELLSER
                     AVQFRAIQRRLLARFKDKTPAPLQHLDTLLDGTYKQVIALADAVEENQGNLFQSFTRL
                     KSATHLVILLIALWQKLSADQVAILEAAFLPLQEDTQELGWEETVDAAISHLLKTCLS
                     KSSKEQALNLNSQLNIPKDTSQLKKHITLLCDRLSKGGRLCLSTDAAAPQTMVMPGGC
                     TTIPESDLEERSVEQDSTELFTNHRHLTAETPRPEVSPLQGVSE"
     exon            630..694
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            695..808
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            809..983
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            984..1068
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1252
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..1382
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1383..1564
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..1641
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1642..1695
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1696..1798
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1799..1903
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1904..1918
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1919..2059
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2060..2155
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2156..2328
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2329..2481
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2482..2664
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2665..2887
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2888..2998
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2999..3873
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3412..3417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: AATAAA"
     polyA_site      3436
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="major polyA site"
     regulatory      3564..3569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: AATAAA"
     polyA_site      3588
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
     regulatory      3849..3854
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: AATAAA"
     polyA_site      3873
                     /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 gtttgtttca ggtaccgaaa tgctacattt ggctgtgtta
      661 cattctagaa aactttgtgt ctactctgtc tcaggaacct tgggtaatgt ggaacatggg
      721 aaccaatgtc agatgaaatt gatgtatgaa cataatcttc agagaacagc ctgcaatatg
      781 acctatggat catttggtgg tgtaaaaggt cgagatttaa tttgcatcca gtctatggat
      841 gggatgctga tggtatttga gcaggagagc tatgcttttg gaagatttct ccctggcttt
      901 cttctgcctg gtcctcttgc ctacagttcc cgtacagatt ccttccttac tgtctcttcc
      961 tgccaacaag tggaaagtta taagtaccag gtacttgctt ttgcaacaga tgcagataaa
     1021 aggcaggaga ctgaacagca aaaacttggt tctggaaaaa gactagttgt ggattggact
     1081 ctaaatattg gagagcaagc ccttgacata tgtattgtct ctttcaatca gtcggcatcc
     1141 tctgtttttg ttcttggtga gagaaacttt ttttgcctta aggataatgg acaaattcga
     1201 ttcatgaaga agcttgattg gagcccaagt tgttttctgc catattgctc agtttctgaa
     1261 ggaacaataa atactttgat tggaaatcat aataacatgc tgcatattta tcaagatgtg
     1321 acactgaagt gggccaccca acttccccac attcctgtag cagtaagagt gggctgtttg
     1381 catgatttaa agggagtgat agtcactctg agtgatgatg gtcacttgca gtgttcatac
     1441 ctggggacag atccttctct gttccaagct ccaaacgttc aatctcgaga actaaactat
     1501 gatgaacttg atgtagaaat gaaagaactt cagaaaatca tcaaagatgt taacaaatca
     1561 caaggtgttt ggcccatgac tgagagagaa gatgacttga acgtttctgt cgtggtttct
     1621 cctaactttg attcagtttc tcaagcgacc gatgttgagg tgggaactga ccttgtccct
     1681 tctgtcacgg tgaaggtcac actgcagaac agagtgatat tgcaaaaagc caaattatca
     1741 gtctacgtgc aaccaccatt agaattgact tgtgatcagt tcacctttga atttatgaca
     1801 ccagatttga ctagaacagt aagcttttct gtttatctga aaagaagtta tacaccatca
     1861 gaattggaag gaaatgctgt tgtttcttat tccagaccaa cagatcgaaa tcctgatggc
     1921 attccgcgag ttatccaatg taaatttaga cttcccctaa agttaatttg cctaccaggt
     1981 cagccttcaa aaactgcaag ccacaaaatt actattgata ccaacaaatc tccagtcagt
     2041 cttcttagtc tcttcccagg ttttgccagt cagtcagatg atgatcaggt gaatgtaatg
     2101 ggttttcact tcttaggagg tgctcgaatt actgttcttg cttccaaaac ttctcaacga
     2161 tatcgcattc agagtgaaca atttgaagat ctttggctca taaccaatga gcttattctt
     2221 cgccttcaag aatattttga aaaacaggga gtcaaagatt ttgcatgttc tttttcggga
     2281 tctatacccc ttcaagaata ttttgagttg attgatcatc attttgagct acggataaat
     2341 ggtgaaaaat tagaagaact cttatctgag agagctgtac aatttcgggc cattcaacgc
     2401 cggctactag caagattcaa agataaaact cctgcccctc ttcaacacct ggacaccttg
     2461 ttagatggaa cctacaagca ggtaattgct ctagcagatg cagtggagga aaaccaaggc
     2521 aatctgttcc agtcattcac caggctgaag agtgccaccc atttggtgat tctgctgatc
     2581 gcgctgtggc agaagcttag tgctgaccag gttgctattc tggaagcggc atttctgccg
     2641 ctacaagaag acactcaaga attgggctgg gaagaaacgg tggatgccgc catttcccac
     2701 ctgttgaaga cttgcctgtc gaagagttct aaggagcagg ctttgaacct caacagccag
     2761 ctgaacatac ccaaagacac aagccaactg aagaaacata tcaccttgct ctgcgataga
     2821 ttatccaaag gtggccgtct ctgcctaagt accgatgcag cagccccaca gaccatggtc
     2881 atgccaggtg gttgtactac aatcccagag tcagacctag aagaaagatc agtagaacaa
     2941 gactctacag aactgtttac caaccacaga catctcactg cagagacacc caggcctgaa
     3001 gtttcacccc tccaaggagt ctcggaataa ttcaagtaga gttgtttggt tgagaggaac
     3061 atccccatct caaggccgaa cctgtgtgaa cctcatgcca agcacagata tagggctggc
     3121 gcaggtgctt cctaaagctc accttcctgg agatgacatg catagaaaga ggggttggga
     3181 ctttttactt cactaggaga acttgtaaca ccatggggaa gtcagctgaa acttgtcttg
     3241 ttttgccagg aaaggaagta gttgcctttg gtcatccatc tgctaatagt cacagaatac
     3301 agtgaaatga catagttttg ggttagattt tataatgcaa agattcagat ccaaaataat
     3361 ttcatacccc attttttcac agaattctta tatagtaaat gtatcaagtt taataaagca
     3421 tctcattgtc aaataatatc ttggatttta tttataatta gagggattta tgagtgattg
     3481 ctctacatta tttcttcaaa ggaaaggaaa ggaattgaag actttgctac tctctggtaa
     3541 gacttgaatg tgattatttt ataaataaaa gaaccactat gaaactttca tgtgatttgt
     3601 tctattaagc taaacgtgga agaagggaag ttttctagta ttgtatgaaa atgtttaaat
     3661 attttcaagg aagctagtac attaacatcc ccttttcatt accccattgg gtggcacctt
     3721 ttaaaaatcc aggttattaa aggattcaca ctttattaca gttaaaattt aaggttttta
     3781 tgtgtaagaa gtgaaagaaa ctttgctaat ttcaagttcg aattacagtt gtgagattga
     3841 tttatttaaa taaaaatatg cctttgccag ttt
//
