LOCUS       NM_001348041            3712 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 10,
            mRNA.
ACCESSION   NM_001348041 XM_011515264
VERSION     NM_001348041.4
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 3712)
  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 3712)
  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 3712)
  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 3712)
  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 3712)
  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 3712)
  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 3712)
  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 3712)
  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 3712)
  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 3712)
  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, AC078833.5, AC018664.11 and AW119001.1.
            
            On May 31, 2019 this sequence version replaced NM_001348041.3.
            
            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 (10) represents the allele encoded
            by the GRCh38 reference genome and encodes isoform (9).
            
            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 :: SRR1803612.208506.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [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
            479-601             AC074338.1         111833-111955
            602-752             AC074338.1         118292-118442
            753-817             AC074338.1         121229-121293
            818-931             AC074338.1         143069-143182
            932-1106            AC007312.1         55738-55912         c
            1107-1191           AC007312.1         48774-48858         c
            1192-1375           AC007312.1         39953-40136         c
            1376-1505           AC007312.1         39192-39321         c
            1506-1687           AC087070.2         17170-17351         c
            1688-1764           AC087070.2         12819-12895         c
            1765-1818           AC087070.2         9158-9211           c
            1819-1921           AC087070.2         4622-4724           c
            1922-2026           AC087070.2         2469-2573           c
            2027-2041           AC087070.2         919-933             c
            2042-2182           AC006195.1         145489-145629       c
            2183-2278           AC006195.1         135622-135717       c
            2279-2451           AC006195.1         119646-119818       c
            2452-2604           AC006195.1         115340-115492       c
            2605-2787           AC078833.5         125332-125514       c
            2788-3010           AC078833.5         96801-97023         c
            3011-3121           AC078833.5         26002-26112         c
            3122-3400           AC018664.11        11401-11679
            3401-3712           AW119001.1         5-316               c
FEATURES             Location/Qualifiers
     source          1..3712
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..3712
                     /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..601
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             490..3216
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="isoform 9 is encoded by transcript variant 10;
                     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 9"
                     /protein_id="NP_001334970.1"
                     /db_xref="CCDS:CCDS94079.1"
                     /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
                     EQDSTELFTNHRHLTAETPRPDPRTGQRIEAWTLRIPHSLSQHLQLMEGPKS"
     exon            602..752
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            753..817
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            818..931
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1106
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1191
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1375
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1376..1505
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1506..1687
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1688..1764
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1765..1818
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1819..1921
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            1922..2026
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2027..2041
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2042..2182
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2183..2278
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2279..2451
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2452..2604
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2605..2787
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            2788..3010
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            3011..3121
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     exon            3122..3712
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3694..3699
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="hexamer: ATTAAA"
     polyA_site      3712
                     /gene="BBS9"
                     /gene_synonym="B1; C18; D1; PTHB1"
                     /note="major polyA site"
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 ggcatcagtg
      481 tgaaagaaaa tgtctttatt taaagcccgt gattggtggt ctactattct gggagataaa
      541 gaagaatttg atcaaggctg tttgtgtctg gctaatgttg acaatagtgg aaatggacaa
      601 gataaaataa ttgtgggtag ctttatggga tacctaagga tctttagccc ccatcctgca
      661 aaaacaggag atggagctca agccgaagat ttgcttctag aagtggatct acgagatcca
      721 gtacttcaag tggaagtagg aaagtttgtt tcaggtaccg aaatgctaca tttggctgtg
      781 ttacattcta gaaaactttg tgtctactct gtctcaggaa ccttgggtaa tgtggaacat
      841 gggaaccaat gtcagatgaa attgatgtat gaacataatc ttcagagaac agcctgcaat
      901 atgacctatg gatcatttgg tggtgtaaaa ggtcgagatt taatttgcat ccagtctatg
      961 gatgggatgc tgatggtatt tgagcaggag agctatgctt ttggaagatt tctccctggc
     1021 tttcttctgc ctggtcctct tgcctacagt tcccgtacag attccttcct tactgtctct
     1081 tcctgccaac aagtggaaag ttataagtac caggtacttg cttttgcaac agatgcagat
     1141 aaaaggcagg agactgaaca gcaaaaactt ggttctggaa aaagactagt tgtggattgg
     1201 actctaaata ttggagagca agcccttgac atatgtattg tctctttcaa tcagtcggca
     1261 tcctctgttt ttgttcttgg tgagagaaac tttttttgcc ttaaggataa tggacaaatt
     1321 cgattcatga agaagcttga ttggagccca agttgttttc tgccatattg ctcagtttct
     1381 gaaggaacaa taaatacttt gattggaaat cataataaca tgctgcatat ttatcaagat
     1441 gtgacactga agtgggccac ccaacttccc cacattcctg tagcagtaag agtgggctgt
     1501 ttgcatgatt taaagggagt gatagtcact ctgagtgatg atggtcactt gcagtgttca
     1561 tacctgggga cagatccttc tctgttccaa gctccaaacg ttcaatctcg agaactaaac
     1621 tatgatgaac ttgatgtaga aatgaaagaa cttcagaaaa tcatcaaaga tgttaacaaa
     1681 tcacaaggtg tttggcccat gactgagaga gaagatgact tgaacgtttc tgtcgtggtt
     1741 tctcctaact ttgattcagt ttctcaagcg accgatgttg aggtgggaac tgaccttgtc
     1801 ccttctgtca cggtgaaggt cacactgcag aacagagtga tattgcaaaa agccaaatta
     1861 tcagtctacg tgcaaccacc attagaattg acttgtgatc agttcacctt tgaatttatg
     1921 acaccagatt tgactagaac agtaagcttt tctgtttatc tgaaaagaag ttatacacca
     1981 tcagaattgg aaggaaatgc tgttgtttct tattccagac caacagatcg aaatcctgat
     2041 ggcattccgc gagttatcca atgtaaattt agacttcccc taaagttaat ttgcctacca
     2101 ggtcagcctt caaaaactgc aagccacaaa attactattg ataccaacaa atctccagtc
     2161 agtcttctta gtctcttccc aggttttgcc agtcagtcag atgatgatca ggtgaatgta
     2221 atgggttttc acttcttagg aggtgctcga attactgttc ttgcttccaa aacttctcaa
     2281 cgatatcgca ttcagagtga acaatttgaa gatctttggc tcataaccaa tgagcttatt
     2341 cttcgccttc aagaatattt tgaaaaacag ggagtcaaag attttgcatg ttctttttcg
     2401 ggatctatac cccttcaaga atattttgag ttgattgatc atcattttga gctacggata
     2461 aatggtgaaa aattagaaga actcttatct gagagagctg tacaatttcg ggccattcaa
     2521 cgccggctac tagcaagatt caaagataaa actcctgccc ctcttcaaca cctggacacc
     2581 ttgttagatg gaacctacaa gcaggtaatt gctctagcag atgcagtgga ggaaaaccaa
     2641 ggcaatctgt tccagtcatt caccaggctg aagagtgcca cccatttggt gattctgctg
     2701 atcgcgctgt ggcagaagct tagtgctgac caggttgcta ttctggaagc ggcatttctg
     2761 ccgctacaag aagacactca agaattgggc tgggaagaaa cggtggatgc cgccatttcc
     2821 cacctgttga agacttgcct gtcgaagagt tctaaggagc aggctttgaa cctcaacagc
     2881 cagctgaaca tacccaaaga cacaagccaa ctgaagaaac atatcacctt gctctgcgat
     2941 agattatcca aaggtggccg tctctgccta agtaccgatg cagcagcccc acagaccatg
     3001 gtcatgccag gtggttgtac tacaatccca gagtcagacc tagaagaaag atcagtagaa
     3061 caagactcta cagaactgtt taccaaccac agacatctca ctgcagagac acccaggcct
     3121 gaccccagga ctggacagag gatcgaggcc tggaccctaa gaatacccca ctccctgagc
     3181 cagcatctcc agctgatgga gggacccaaa agctaagcgg ggtcaatcag acaccttccc
     3241 tgggatggtt aaaactggga caggccaatg gagaaggtcc ttctgtcttt ggtctgtgat
     3301 gcgaggaaca cagggatctt tcctgttgtg tggagaaaga ggagcccaga gccgtactga
     3361 gccaaggggg tgccagggag aggctgccag gcctgggccc tggaaccagc cccccaaggc
     3421 cctggaacca gcctgctcca tgcagctgcg gctcttccag tctgtgagct actcagtgcc
     3481 ctttcaacaa accccgcctt gttttgcttt aatcagtttg cattttctgt tgcttctttc
     3541 tggaaaaatc ctctgtgctt tgactgactc cagggtcttc ctccttgagg tggatttctt
     3601 agtcactgtt aggtatccaa atataggcga gtgtaaggca tttttctttc aactgttcat
     3661 tttaatgaat tacattcagg aaataagtag gaaattaaat tcattgaaag ac
//
