LOCUS       NM_024649               3368 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.
ACCESSION   NM_024649
VERSION     NM_024649.5
KEYWORDS    RefSeq; MANE Select.
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 3368)
  AUTHORS   Alghaith,F.A., MacKay,S., Wallace,K., Locke,J., Robitaille,J.M.,
            Dyack,S. and Arts,H.H.
  TITLE     Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince
            Edward Island
  JOURNAL   Clin Genet 104 (6), 713-715 (2023)
   PUBMED   37612261
  REMARK    GeneRIF: Recurrence of a BBS1 variant in Bardet-Biedl patients from
            Prince Edward Island.
REFERENCE   2  (bases 1 to 3368)
  AUTHORS   Freke,G.M., Martins,T., Davies,R.J., Beyer,T., Seda,M., Peskett,E.,
            Haq,N., Prasai,A., Otto,G., Jeyabalan Srikaran,J., Hernandez,V.,
            Diwan,G.D., Russell,R.B., Ueffing,M., Huranova,M., Boldt,K.,
            Beales,P.L. and Jenkins,D.
  TITLE     De-Suppression of Mesenchymal Cell Identities and Variable
            Phenotypic Outcomes Associated with Knockout of Bbs1
  JOURNAL   Cells 12 (22), 2662 (2023)
   PUBMED   37998397
  REMARK    GeneRIF: De-Suppression of Mesenchymal Cell Identities and Variable
            Phenotypic Outcomes Associated with Knockout of Bbs1.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3368)
  AUTHORS   Viehl,L., Wegner,D.J., Hmiel,S.P., White,F.V., Jain,S., Cole,F.S.
            and Wambach,J.A.
  TITLE     Lethal neonatal respiratory failure due to biallelic variants in
            BBS1 and monoallelic variant in TTC21B
  JOURNAL   Pediatr Nephrol 38 (2), 605-609 (2023)
   PUBMED   35695966
  REMARK    GeneRIF: Lethal neonatal respiratory failure due to biallelic
            variants in BBS1 and monoallelic variant in TTC21B.
REFERENCE   4  (bases 1 to 3368)
  AUTHORS   Grudzinska Pechhacker,M.K., Jacobson,S.G., Drack,A.V., Scipio,M.D.,
            Strubbe,I., Pfeifer,W., Duncan,J.L., Dollfus,H., Goetz,N.,
            Muller,J., Vincent,A.L., Aleman,T.S., Tumber,A., Van
            Cauwenbergh,C., De Baere,E., Bedoukian,E., Leroy,B.P., Maynes,J.T.,
            Munier,F.L., Tavares,E., Saleh,E., Vincent,A. and Heon,E.
  TITLE     Comparative Natural History of Visual Function From Patients With
            Biallelic Variants in BBS1 and BBS10
  JOURNAL   Invest Ophthalmol Vis Sci 62 (15), 26 (2021)
   PUBMED   34940782
  REMARK    GeneRIF: Comparative Natural History of Visual Function From
            Patients With Biallelic Variants in BBS1 and BBS10.
REFERENCE   5  (bases 1 to 3368)
  AUTHORS   Young,T.L., Woods,M.O., Parfrey,P.S., Green,J.S., Hefferton,D. and
            Davidson,W.S.
  TITLE     A founder effect in the newfoundland population reduces the
            Bardet-Biedl syndrome I (BBS1) interval to 1 cM
  JOURNAL   Am J Hum Genet 65 (6), 1680-1687 (1999)
   PUBMED   10577922
REFERENCE   6  (bases 1 to 3368)
  AUTHORS   Katsanis,N., Lewis,R.A., Stockton,D.W., Mai,P.M., Baird,L.,
            Beales,P.L., Leppert,M. and Lupski,J.R.
  TITLE     Delineation of the critical interval of Bardet-Biedl syndrome 1
            (BBS1) to a small region of 11q13, through linkage and haplotype
            analysis of 91 pedigrees
  JOURNAL   Am J Hum Genet 65 (6), 1672-1679 (1999)
   PUBMED   10577921
REFERENCE   7  (bases 1 to 3368)
  AUTHORS   Beales,P.L., Warner,A.M., Hitman,G.A., Thakker,R. and Flinter,F.A.
  TITLE     Bardet-Biedl syndrome: a molecular and phenotypic study of 18
            families
  JOURNAL   J Med Genet 34 (2), 92-98 (1997)
   PUBMED   9039982
REFERENCE   8  (bases 1 to 3368)
  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   9  (bases 1 to 3368)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (bases 1 to 3368)
  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 AP002748.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 25, 2018 this sequence version replaced NM_024649.4.
            
            Summary: Mutations in this gene have been observed in patients with
            the major form (type 1) of Bardet-Biedl syndrome. The encoded
            protein may play a role in eye, limb, cardiac and reproductive
            system development. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1803617.173357.1, BX647612.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318312.12/ ENSP00000317469.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-72                AP002748.4         83797-83868
            73-149              AP002748.4         84175-84251
            150-184             AP002748.4         84367-84401
            185-457             AP002748.4         87568-87840
            458-504             AP002748.4         88702-88748
            505-543             AP002748.4         88855-88893
            544-616             AP002748.4         89023-89095
            617-748             AP002748.4         92779-92910
            749-855             AP002748.4         94432-94538
            856-976             AP002748.4         96618-96738
            977-1135            AP002748.4         96886-97044
            1136-1205           AP002748.4         99285-99354
            1206-1364           AP002748.4         99811-99969
            1365-1498           AP002748.4         102981-103114
            1499-1633           AP002748.4         104056-104190
            1634-1720           AP002748.4         104818-104904
            1721-3368           AP002748.4         105113-106760
FEATURES             Location/Qualifiers
     source          1..3368
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..3368
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /note="Bardet-Biedl syndrome 1"
                     /db_xref="GeneID:582"
                     /db_xref="HGNC:HGNC:966"
                     /db_xref="MIM:209901"
     exon            1..72
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1807
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /note="bardet-Biedl syndrome 1 protein; BBS2-like protein
                     2"
                     /codon_start=1
                     /product="BBSome complex member BBS1"
                     /protein_id="NP_078925.3"
                     /db_xref="CCDS:CCDS8142.1"
                     /db_xref="GeneID:582"
                     /db_xref="HGNC:HGNC:966"
                     /db_xref="MIM:209901"
                     /translation="MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALA
                     DLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTESPLPALPAAAATFLMEQHEPRTP
                     ALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIR
                     ETAEEPLSIQSLRFLQLELSEMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSC
                     LVLGTENKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILR
                     RDSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMN
                     LLEQHSRGLQAVMAGLANGEVRIYRDKALLNVIHTPDAVTSLCFGRYGREDNTLIMTT
                     RGGGLIIKILKRTAVFVEGGSEVGPPPAQAMKLNVPRKTRLYVDQTLREREAGTAMHR
                     AFQTDLYLLRLRAARAYLQALESSLSPLSTTAREPLKLHAVVQGLGPTFKLTLHLQNT
                     STTRPVLGLLVCFLYNEALYSLPRAFFKVPLLVPGLNYPLETFVESLSNKGISDIIKV
                     LVLREGQSAPLLSAHVNMPGSEGLAAA"
     exon            73..149
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            150..184
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            185..457
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            458..504
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            505..543
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            544..616
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            617..748
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            749..855
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            856..976
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1135
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1136..1205
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1206..1364
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1365..1498
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1499..1633
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..1720
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1721..3368
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3349..3354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /note="hexamer: ATTAAA"
     polyA_site      3368
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /note="major polyA site"
ORIGIN      
        1 ggttgccagg acgacgcctg cgaagatggc cgctgcgtcc tcatcggatt ccgacgcctg
       61 cggagctgag agcaatgagg ccaattcgaa gtggttggat gcgcactacg acccaatggc
      121 caatatccac accttttctg cctgcctagc gctggcagat ttacatgggg atggggaata
      181 caagctggtg gtaggggacc ttggccctgg tgggcagcag ccccgcctga aggtgctcaa
      241 aggaccactg gtgatgaccg aaagcccgct acctgctctg ccagctgctg ctgccacctt
      301 cctcatggag caacatgagc cccggacccc agctctggca cttgcttcag gcccttgtgt
      361 ctatgtgtat aagaatctca gaccctactt caagttcagc ctgccccaat tgcctccaaa
      421 tcctctggaa caagaccttt ggaaccaggc caaagaggac cgaatcgacc ccttaaccct
      481 gaaggagatg ctggagagca tccgggagac ggcagaggag cctttgtcca tccagtcact
      541 caggtttctg cagctggagc taagtgaaat ggaggcattt gtaaaccaac acaagtccaa
      601 ctccatcaag cggcagacag tcatcaccac catgaccacc ttgaagaaga acctggctga
      661 cgaggatgct gtgtcttgcc tggtgctggg caccgagaac aaggagctcc tggtgcttga
      721 ccccgaggcc ttcaccattt tagccaagat gagccttccc agcgtccccg tcttcctaga
      781 ggtttctggc cagtttgatg ttgagttccg gcttgccgcg gcctgccgca atggaaacat
      841 ctatattctg agaagagact ccaagcaccc caagtactgc atcgagctga gcgcccagcc
      901 tgtgggactt atccgggtac acaaggtcct agtggtgggc agcacccaag acagcctgca
      961 tggcttcacc cacaagggga agaagctgtg gacagtgcag atgcccgcag ccatcctgac
     1021 catgaacctc ctggagcagc attcccgggg cctgcaggcc gtcatggctg ggctggccaa
     1081 tggagaggtc cgcatttatc gtgacaaggc cctgctcaat gtcatccaca ccccggatgc
     1141 agtgaccagc ctttgctttg gccggtacgg gcgggaggac aacaccctca tcatgaccac
     1201 tcgaggtggt ggcctgatca tcaagatcct gaagcgtaca gcagtgtttg tagagggagg
     1261 aagtgaggtg ggtcccccac cagcccaggc catgaaactc aatgtgcccc gaaagacccg
     1321 gctttacgtg gatcagacac tgcgagagcg ggaggctggc accgccatgc accgggcctt
     1381 ccagacagac ctatacctgc tgcgcctacg tgctgcccgc gcctacctgc aggccctcga
     1441 gtccagcctg agccccctgt ccacgacagc ccgagagcca ctcaagctgc acgccgtggt
     1501 tcagggcctt ggccccacct ttaagctcac acttcacctg cagaacacct caacaacccg
     1561 tcctgtcctg gggctgctgg tctgcttcct gtacaacgag gcgctctatt ccctgccccg
     1621 ggccttcttc aaggtaccct tgctggtgcc agggctcaac taccccctgg agacctttgt
     1681 ggagagtctc agtaacaagg gcatctcaga catcatcaag gtgctggtgc ttcgagaagg
     1741 ccaaagtgca cccctgctga gtgcccacgt caacatgcct gggagcgagg ggctggcggc
     1801 cgcctgagac ctgagctgct gtgaaagccc ctgcacaatc agccagggag aactgggcgg
     1861 gtttagtggc cccaggccca ctcctcatgc agcagtgtgc tggggcgaca gctcgtctcc
     1921 cctctcttaa gcacccgctt cctcaccacc cccactgttg ggcctatagt agcaggttag
     1981 tgagtaccta gggcggctca actcctccca cagcaccaac ccagcatggt cccactgaag
     2041 tcctactacg ccctcccctc cccagccttt tccagaaacc atactgggct cagatcagag
     2101 ctccgaagcg gtcaaagtga gctgagcagg acaggcccag cctttctcca ctgccacgtc
     2161 cctcatgcac atcactcatc tcctgctgca ggccaaggcc aaaattgggc tagtcctggc
     2221 cagggaaatc agaagctctt cttgggtgag attgagcctc ctgttgctcc ctggagttcc
     2281 ggaggctggg ctgcagccca ctcagcttgc gggcaaaata cgtgctctcc tctctccttg
     2341 tcagctgagc aaacccaggg aatagccctc ctctccccag gaaacttctc tgaaatctta
     2401 gacttagcca gtcttaggcc tacgatgcca cacaaaggtt gttcagggag aagggggtgc
     2461 aggaggcaga gggtgccccg cagggagctg gtggctccag ccccactaga gctcctaaag
     2521 atcacacagc agctgctcct gacagggatg ctcatgccca gaaagcaagc ccaggagagg
     2581 aaggcagagt gtgacagagc agagccaggg ccaggcgcac caggagaggc gtttctgggg
     2641 ctccagagaa gtgccacggg aggcagaagt ccagaactgc ccatatagat gcccttctac
     2701 atcctggagc ccaaatcagt catgtgggtg ggaagttccc agggcagtgg tcacatcgtg
     2761 agaattagca ggaaaggcgg ggcctttctt gtcatagcta tttctgagga tgaaatggga
     2821 gacatatgcc cagcacctga tgtaagttta tataatgtaa tattatgtac ctaccactaa
     2881 gaaatacatg aaccgtgcca tgaggacagt aagtgttcat aaagcaacat gaagcaagaa
     2941 acagtgcagg gtgcccagtg cacacactag agagaaattg tgaacattaa ggacaaggag
     3001 aattggtgtc tttctaaaac atacttattt aaaaacacat acccacttac taatgtggaa
     3061 ttacacagtt tgtaacaaga aaacagtctc tcccattctc tagtactgct cccctaccca
     3121 gcagtcactt ccagttcatt cagctatttt taaaatgtgc ttatatgact cttgcttgat
     3181 atatcaatct tagacattac ctgttgactc cctgttgtca tacatgaggc tttagctctc
     3241 ttttgtcagc aaccctcccc catccctagt tattaggtta aaaaatactc agattactat
     3301 ttctattact atgtgaaagt taactgcgga gccaagagtt ggactataat taaattacct
     3361 tccttgta
//
