LOCUS       NM_001362679            3629 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 19,
            mRNA.
ACCESSION   NM_001362679 XM_011515268
VERSION     NM_001362679.1
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 3629)
  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 3629)
  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 3629)
  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 3629)
  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 3629)
  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 3629)
  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 3629)
  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 3629)
  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 3629)
  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 3629)
  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 AL704922.1, BC103831.2,
            CD105376.1, AC018664.11 and AW119001.1.
            
            On Jun 20, 2018 this sequence version replaced XM_011515268.2.
            
            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].
            
            Transcript Variant: This variant (19) represents the allele encoded
            by the GRCh38 reference genome and encodes isoform (14).
            
            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 :: SRR1803616.75347.1,
                                           SRR1803615.86123.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142363, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-380               AL704922.1         1-380
            381-1536            BC103831.2         1-1156
            1537-1788           BC103831.2         1157-1408
            1789-2585           CD105376.1         2-798
            2586-3034           BC103831.2         2206-2654
            3035-3156           AC018664.11        11401-11522
            3157-3305           AW119001.1         325-473             c
            3306-3313           AC018664.11        11672-11679
            3314-3629           AW119001.1         1-316               c
FEATURES             Location/Qualifiers
     source          1..3629
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..3629
                     /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..502
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            503..625
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             514..3129
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="isoform 14 is encoded by transcript variant 19;
                     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 14"
                     /protein_id="NP_001349608.1"
                     /db_xref="CCDS:CCDS94080.1"
                     /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
                     LNIPKDTSQLKKHITLLCDRLSKGGRLCLSTDAAAPQTMVMPDPRTGQRIEAWTLRIP
                     HSLSQHLQLMEGPKS"
     exon            626..776
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            777..841
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            842..955
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1130
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1215
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1216..1399
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1529
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1530..1711
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1712..1788
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1789..1842
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1843..1945
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1946..2050
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2051..2065
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2066..2206
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2207..2302
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2303..2475
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2476..2628
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2629..2811
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2812..3034
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            3035..3625
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3607..3612
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: ATTAAA"
     polyA_site      3625
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="major polyA site"
ORIGIN      
        1 agtggcgtcc gttgtaagtg ctatgacaac agggcgaaga tggctcagag ttaggctgga
       61 gaggggaggt gtcccttccg ctgcggccgt cgggtttctg ctacatccca ttcaccgcct
      121 cctccatcct ttcctcctcg gtgtgagcag caggacttgc atttgttctc gcctgcctag
      181 tgtcttccaa gggatagatg ccgtttcctc tgctggtctc tgggggtgac ggggggcgca
      241 ggggagcttc ttgggggaat cactccaact ctgtggagct ggtggtgctg cctggtgggg
      301 ctctctcttt gcccgggacg tggaacaact ttcagctgga ggacgagagg gaatagtgaa
      361 gctaaaggtt gcttttctct gcaccgtccg ttcttgctcc ctctgctcca tcactgggac
      421 cttgtcaggc gttcataaag caaaatttgc cgaacgaggg ttcgcagaaa ggtggggcag
      481 agctcatctg acgtggcatc agtgtgaaag aaaatgtctt tatttaaagc ccgtgattgg
      541 tggtctacta ttctgggaga taaagaagaa tttgatcaag gctgtttgtg tctggctaat
      601 gttgacaata gtggaaatgg acaagataaa ataattgtgg gtagctttat gggataccta
      661 aggatcttta gcccccatcc tgcaaaaaca ggagatggag ctcaagccga agatttgctt
      721 ctagaagtgg atctacgaga tccagtactt caagtggaag taggaaagtt tgtttcaggt
      781 accgaaatgc tacatttggc tgtgttacat tctagaaaac tttgtgtcta ctctgtctca
      841 ggaaccttgg gtaatgtgga acatgggaac caatgtcaga tgaaattgat gtatgaacat
      901 aatcttcaga gaacagcctg caatatgacc tatggatcat ttggtggtgt aaaaggtcga
      961 gatttaattt gcatccagtc tatggatggg atgctgatgg tatttgagca ggagagctat
     1021 gcttttggaa gatttctccc tggctttctt ctgcctggtc ctcttgccta cagttcccgt
     1081 acagattcct tccttactgt ctcttcctgc caacaagtgg aaagttataa gtaccaggta
     1141 cttgcttttg caacagatgc agataaaagg caggagactg aacagcaaaa acttggttct
     1201 ggaaaaagac tagttgtgga ttggactcta aatattggag agcaagccct tgacatatgt
     1261 attgtctctt tcaatcagtc ggcatcctct gtttttgttc ttggtgagag aaactttttt
     1321 tgccttaagg ataatggaca aattcgattc atgaagaagc ttgattggag cccaagttgt
     1381 tttctgccat attgctcagt ttctgaagga acaataaata ctttgattgg aaatcataat
     1441 aacatgctgc atatttatca agatgtgaca ctgaagtggg ccacccaact tccccacatt
     1501 cctgtagcag taagagtggg ctgtttgcat gatttaaagg gagtgatagt cactctgagt
     1561 gatgatggtc acttgcagtg ttcatacctg gggacagatc cttctctgtt ccaagctcca
     1621 aacgttcaat ctcgagaact aaactatgat gaacttgatg tagaaatgaa agaacttcag
     1681 aaaatcatca aagatgttaa caaatcacaa ggtgtttggc ccatgactga gagagaagat
     1741 gacttgaacg tttctgtcgt ggtttctcct aactttgatt cagtttctca agcgaccgat
     1801 gttgaggtgg gaactgacct tgtcccttct gtcacggtga aggtcacact gcagaacaga
     1861 gtgatattgc aaaaagccaa attatcagtc tacgtgcaac caccattaga attgacttgt
     1921 gatcagttca cctttgaatt tatgacacca gatttgacta gaacagtaag cttttctgtt
     1981 tatctgaaaa gaagttatac accatcagaa ttggaaggaa atgctgttgt ttcttattcc
     2041 agaccaacag atcgaaatcc tgatggcatt ccgcgagtta tccaatgtaa atttagactt
     2101 cccctaaagt taatttgcct accaggtcag ccttcaaaaa ctgcaagcca caaaattact
     2161 attgatacca acaaatctcc agtcagtctt cttagtctct tcccaggttt tgccagtcag
     2221 tcagatgatg atcaggtgaa tgtaatgggt tttcacttct taggaggtgc tcgaattact
     2281 gttcttgctt ccaaaacttc tcaacgatat cgcattcaga gtgaacaatt tgaagatctt
     2341 tggctcataa ccaatgagct tattcttcgc cttcaagaat attttgaaaa acagggagtc
     2401 aaagattttg catgttcttt ttcgggatct ataccccttc aagaatattt tgagttgatt
     2461 gatcatcatt ttgagctacg gataaatggt gaaaaattag aagaactctt atctgagaga
     2521 gctgtacaat ttcgggccat tcaacgccgg ctactagcaa gattcaaaga taaaactcct
     2581 gcccctcttc aacacctgga caccttgtta gatggaacct acaagcaggt aattgctcta
     2641 gcagatgcag tggaggaaaa ccaaggcaat ctgttccagt cattcaccag gctgaagagt
     2701 gccacccatt tggtgattct gctgatcgcg ctgtggcaga agcttagtgc tgaccaggtt
     2761 gctattctgg aagcggcatt tctgccgcta caagaagaca ctcaagaatt gggctgggaa
     2821 gaaacggtgg atgccgccat ttcccacctg ttgaagactt gcctgtcgaa gagttctaag
     2881 gagcaggctt tgaacctcaa cagccagctg aacataccca aagacacaag ccaactgaag
     2941 aaacatatca ccttgctctg cgatagatta tccaaaggtg gccgtctctg cctaagtacc
     3001 gatgcagcag ccccacagac catggtcatg ccagacccca ggactggaca gaggatcgag
     3061 gcctggaccc taagaatacc ccactccctg agccagcatc tccagctgat ggagggaccc
     3121 aaaagctaag cggggtcaat cagacacctt ccctgggatg gttaaaactg ggacaggcca
     3181 atggagaagg tccttctgtc tttggtctgt gatgcgagga acacagggat ctttcctgtt
     3241 gtgtggagaa agaggagccc agagccgtac tgagccaagg gggtgccagg gagaggctgc
     3301 caggcctggg ccctggaacc agccccccaa ggccctggaa ccagcctgct ccatgcagct
     3361 gcggctcttc cagtctgtga gctactcagt gccctttcaa caaaccccgc cttgttttgc
     3421 tttaatcagt ttgcattttc tgttgcttct ttctggaaaa atcctctgtg ctttgactga
     3481 ctccagggtc ttcctccttg aggtggattt cttagtcact gttaggtatc caaatatagg
     3541 cgagtgtaag gcatttttct ttcaactgtt cattttaatg aattacattc aggaaataag
     3601 taggaaatta aattcattga aagacaaaa
//
