LOCUS       NM_024685               3568 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.
ACCESSION   NM_024685
VERSION     NM_024685.4
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 3568)
  AUTHORS   Marchese,E., Caterino,M., Fedele,R., Pirozzi,F., Cevenini,A.,
            Gupta,N., Ingrosso,D., Perna,A., Capasso,G., Ruoppolo,M. and
            Zacchia,M.
  TITLE     Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show
            Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl
            Syndrome
  JOURNAL   Int J Mol Sci 23 (16), 9420 (2022)
   PUBMED   36012682
  REMARK    GeneRIF: Multi-Omics Studies Unveil Extraciliary Functions of BBS10
            and Show Metabolic Aberrations Underlying Renal Disease in
            Bardet-Biedl Syndrome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3568)
  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   3  (bases 1 to 3568)
  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   4  (bases 1 to 3568)
  AUTHORS   Wang,L., Liu,Y., Stratigopoulos,G., Panigrahi,S., Sui,L., Zhang,Y.,
            Leduc,C.A., Glover,H.J., De Rosa,M.C., Burnett,L.C., Williams,D.J.,
            Shang,L., Goland,R., Tsang,S.H., Wardlaw,S., Egli,D., Zheng,D.,
            Doege,C.A. and Leibel,R.L.
  TITLE     Bardet-Biedl syndrome proteins regulate intracellular signaling and
            neuronal function in patient-specific iPSC-derived neurons
  JOURNAL   J Clin Invest 131 (8) (2021)
   PUBMED   33630762
  REMARK    GeneRIF: Bardet-Biedl syndrome proteins regulate intracellular
            signaling and neuronal function in patient-specific iPSC-derived
            neurons.
REFERENCE   5  (bases 1 to 3568)
  AUTHORS   White,D.R., Ganesh,A., Nishimura,D., Rattenberry,E., Ahmed,S.,
            Smith,U.M., Pasha,S., Raeburn,S., Trembath,R.C., Rajab,A.,
            Macdonald,F., Banin,E., Stone,E.M., Johnson,C.A., Sheffield,V.C.
            and Maher,E.R.
  TITLE     Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and
            confirmation of FLJ23560 as BBS10
  JOURNAL   Eur J Hum Genet 15 (2), 173-178 (2007)
   PUBMED   17106446
REFERENCE   6  (bases 1 to 3568)
  AUTHORS   Dollfus,H., Muller,J., Stoetzel,C., Laurier,V., Bonneau,D.,
            Megarbane,A., Poch,O. and Mandel,J.L.
  TITLE     [Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]
  JOURNAL   Med Sci (Paris) 22 (11), 901-904 (2006)
   PUBMED   17101080
  REMARK    GeneRIF: Detected in a family with high consanguinity and
            Bardet-Biedl syndrome.
REFERENCE   7  (bases 1 to 3568)
  AUTHORS   Laurier,V., Stoetzel,C., Muller,J., Thibault,C., Corbani,S.,
            Jalkh,N., Salem,N., Chouery,E., Poch,O., Licaire,S., Danse,J.M.,
            Amati-Bonneau,P., Bonneau,D., Megarbane,A., Mandel,J.L. and
            Dollfus,H.
  TITLE     Pitfalls of homozygosity mapping: an extended consanguineous
            Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10),
            three mutations, but no triallelism
  JOURNAL   Eur J Hum Genet 14 (11), 1195-1203 (2006)
   PUBMED   16823392
REFERENCE   8  (bases 1 to 3568)
  AUTHORS   Stoetzel,C., Laurier,V., Davis,E.E., Muller,J., Rix,S.,
            Badano,J.L., Leitch,C.C., Salem,N., Chouery,E., Corbani,S.,
            Jalk,N., Vicaire,S., Sarda,P., Hamel,C., Lacombe,D., Holder,M.,
            Odent,S., Holder,S., Brooks,A.S., Elcioglu,N.H., Silva,E.D.,
            Rossillion,B., Sigaudy,S., de Ravel,T.J., Lewis,R.A., Leheup,B.,
            Verloes,A., Amati-Bonneau,P., Megarbane,A., Poch,O., Bonneau,D.,
            Beales,P.L., Mandel,J.L., Katsanis,N. and Dollfus,H.
  TITLE     BBS10 encodes a vertebrate-specific chaperonin-like protein and is
            a major BBS locus
  JOURNAL   Nat Genet 38 (5), 521-524 (2006)
   PUBMED   16582908
  REMARK    Erratum:[Nat Genet. 2006 Jun;38(6):727. Da Silva, Eduardo
            [corrected to Silva, Eduardo D]]
REFERENCE   9  (bases 1 to 3568)
  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 3568)
  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 BC026355.1, DR155669.1,
            BC013795.1, AI673014.1 and CA414269.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 26, 2018 this sequence version replaced NM_024685.3.
            
            Summary: This gene is a member of the Bardet-Biedl syndrome (BBS)
            gene family. Bardet-Biedl syndrome is an autosomal recessive
            disorder characterized by progressive retinal degeneration,
            obesity, polydactyly, renal malformation and cognitive disability.
            The proteins encoded by BBS gene family members are structurally
            diverse and the similar phenotypes exhibited by mutations in BBS
            gene family members is likely due to their shared roles in cilia
            formation and function. Many BBS proteins localize to the basal
            bodies, ciliary axonemes, and pericentriolar regions of cells. BBS
            proteins may also be involved in intracellular trafficking via
            microtubule-related transport. The protein encoded by this gene is
            likely not a ciliary protein but rather has distant sequence
            homology to type II chaperonins. As a molecular chaperone, this
            protein may affect the folding or stability of other ciliary or
            basal body proteins. Inhibition of this protein's expression
            impairs ciliogenesis in preadipocytes. Mutations in this gene cause
            Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010].
            
            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 :: SRR1660809.9515.1,
                                           SRR1660805.180875.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000650064.2/ ENSP00000497413.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-51                BC026355.1         13-63
            52-747              DR155669.1         23-718
            748-1436            BC026355.1         760-1448
            1437-3279           BC013795.1         56-1898
            3280-3556           AI673014.1         1-277               c
            3557-3568           CA414269.1         18-29               c
FEATURES             Location/Qualifiers
     source          1..3568
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.2"
     gene            1..3568
                     /gene="BBS10"
                     /gene_synonym="C12orf58"
                     /note="Bardet-Biedl syndrome 10"
                     /db_xref="GeneID:79738"
                     /db_xref="HGNC:HGNC:26291"
                     /db_xref="MIM:610148"
     exon            1..254
                     /gene="BBS10"
                     /gene_synonym="C12orf58"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..2229
                     /gene="BBS10"
                     /gene_synonym="C12orf58"
                     /note="bardet-Biedl syndrome 10 protein"
                     /codon_start=1
                     /product="BBSome complex assembly protein BBS10"
                     /protein_id="NP_078961.3"
                     /db_xref="CCDS:CCDS9014.2"
                     /db_xref="GeneID:79738"
                     /db_xref="HGNC:HGNC:26291"
                     /db_xref="MIM:610148"
                     /translation="MLSSMAAAGSVKAALQVAEVLEAIVSCCVGPEGRQVLCTKPTGE
                     VLLSRNGGRLLEALHLEHPIARMIVDCVSSHLKKTGDGAKTFIIFLCHLLRGLHAITD
                     REKDPLMCENIQTHGRHWKNCSRWKFISQALLTFQTQILDGIMDQYLSRHFLSIFSSA
                     KERTLCRSSLELLLEAYFCGRVGRNNHKFISQLMCDYFFKCMTCKSGIGVFELVDDHF
                     VELNVGVTGLPVSDSRIIAGLVLQKDFSVYRPADGDMRMVIVTETIQPLFSTSGSEFI
                     LNSEAQFQTSQFWIMEKTKAIMKHLHSQNVKLLISSVKQPDLVSYYAGVNGISVVECL
                     SSEEVSLIRRIIGLSPFVPPQAFSQCEIPNTALVKFCKPLILRSKRYVHLGLISTCAF
                     IPHSIVLCGPVHGLIEQHEDALHGALKMLRQLFKDLDLNYMTQTNDQNGTSSLFIYKN
                     SGESYQAPDPGNGSIQRPYQDTVAENKDALEKTQTYLKVHSNLVIPDVELETYIPYST
                     PTLTPTDTFQTVETLTCLSLERNRLTDYYEPLLKNNSTAYSTRGNRIEISYENLQVTN
                     ITRKGSMLPVSCKLPNMGTSQSYLSSSMPAGCVLPVGGNFEILLHYYLLNYAKKCHQS
                     EETMVSMIIANALLGIPKVLYKSKTGKYSFPHTYIRAVHALQTNQPLVSSQTGLESVM
                     GKYQLLTSVLQCLTKILTIDMVITVKRHPQKVHNQDSEDEL"
     exon            255..3568
                     /gene="BBS10"
                     /gene_synonym="C12orf58"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3514..3519
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS10"
                     /gene_synonym="C12orf58"
                     /note="hexamer: AATAAA"
     polyA_site      3536
                     /gene="BBS10"
                     /gene_synonym="C12orf58"
                     /note="major polyA site"
     polyA_site      3560
                     /gene="BBS10"
                     /gene_synonym="C12orf58"
ORIGIN      
        1 gttttcggtc ggcccgggtg ttctgcaagc tggtcaaaaa ggggaagcgg cccagatatg
       61 ttaagttcta tggccgctgc agggtctgtg aaggcggcgt tgcaggtggc cgaggtgctg
      121 gaagccatcg tgagctgctg cgtggggccc gagggacggc aagttttgtg tacgaagccc
      181 actggcgagg tgcttctcag ccggaatgga ggccgcctcc tggaggcgct acacttagag
      241 catcccatag ccaggatgat agtggactgt gtttccagtc atctcaaaaa aacaggagat
      301 ggtgcaaaaa catttattat ctttctttgc catttgctta gaggacttca tgcaatcaca
      361 gacagagaaa aggatccttt gatgtgtgaa aacattcaaa cccatggaag gcattggaaa
      421 aattgttctc ggtggaaatt tatttcccag gctctcctaa cgtttcagac acaaatatta
      481 gacggtatta tggaccagta cctaagtaga cactttttgt ctatcttttc gtctgctaaa
      541 gagagaacat tgtgtaggag ctctttagag ttgctcttag aagcatactt ttgtggaaga
      601 gtgggaagaa ataatcataa atttatttca cagttgatgt gtgactactt tttcaagtgt
      661 atgacttgta aaagtgggat tggtgtattt gagttagtgg atgaccattt tgtagagttg
      721 aatgttggtg tcactggcct tcctgtttca gattccagga tcatagctgg tcttgtgctt
      781 cagaaagatt tttctgtgta ccgcccagca gatggtgaca tgcgaatggt gatagtaaca
      841 gaaaccattc agcctctttt ttccacttct ggatcagagt ttattctaaa ttcagaagca
      901 cagtttcaga catctcaatt ttggattatg gaaaagacaa aagcaataat gaaacatcta
      961 catagtcaga atgtaaaatt gctcatatct agtgtgaaac aaccagattt agttagttat
     1021 tatgcagggg tgaatggcat atcagtggtt gagtgtttat catcagaaga agtttctctt
     1081 atccggagga tcattggtct ttctccattt gtaccaccac aggccttttc gcagtgtgaa
     1141 atacctaaca ctgctttggt gaaattttgt aaacctctta tccttagatc caaaagatat
     1201 gttcatctag gcttgataag cacatgtgca tttataccac actctatagt tctttgtgga
     1261 ccagtgcatg gtctcattga acaacatgag gatgctttac atggagcact taaaatgctt
     1321 cggcaattat ttaaagacct tgatctaaat tacatgacac aaaccaatga ccaaaatggc
     1381 acttcaagtc tttttattta taagaacagt ggagaaagtt atcaagcacc agatcctggt
     1441 aatggctcaa tacaaaggcc ttatcaggac acagttgcag agaacaaaga tgcattggaa
     1501 aaaactcaaa catatttaaa agtacattct aatttggtaa ttccagatgt agaattagaa
     1561 acatatattc cgtattcaac ccccacactg acaccaacag atacattcca aacagttgaa
     1621 acgctgacat gtttgtcttt ggaaagaaac aggctaactg attattatga accattactc
     1681 aagaacaatt ccactgctta ttcaacaagg ggaaatagaa tagaaatttc ttacgaaaat
     1741 ttacaggtca caaatattac tagaaaggga agcatgttac cagtgagctg taagttaccg
     1801 aatatgggta cttcccagag ttacctttcc tcatctatgc cagctggttg tgttttgcca
     1861 gtaggtggta attttgagat cttgttacat tactatcttc tcaattatgc caaaaaatgc
     1921 catcaatcag aagaaaccat ggttagtatg ataatagcta atgcactttt aggcattccc
     1981 aaagtccttt ataaatctaa aacaggaaag tacagctttc cacatacata tataagagct
     2041 gtccatgcac tgcaaaccaa tcaacccttg gtaagcagtc agacaggttt ggaatcagta
     2101 atgggtaaat accagctact aacttcagtt cttcagtgtt tgacaaaaat attaaccatt
     2161 gacatggtaa tcactgttaa gagacaccct cagaaagttc acaatcaaga ttcagaagat
     2221 gaactataac atcagaagtt tttaattaac caaacttttc atctaactca agccaagtaa
     2281 agcagtcatg tgaccactgg ttctaaagtc agttcagtct acttaggaaa atagcgtaac
     2341 tttaaaagtc tttagaagaa gcacactaag gtcaccagac cagatacaaa tattaaatta
     2401 ctttatggaa caaatctaga ggggaagcca agatttggct aagtgtgtct gttttttccc
     2461 tattttatgc ctctgtgtct cagctctgtg ttagcctatg tgtttagggg agggtttttc
     2521 tttatagctc ctttttactc tcctgtatct ttttcactcc agccctcctt catcgttaca
     2581 tgtttagttc atagaatcat ttaatctctg atttgggtgg gcttattcta attgttttta
     2641 atattgaata cattatttgc attaattttc cctactcata ctttgtaaag ctgagtaaaa
     2701 ggctcaaatt atttttttca aaaagcataa aattaaatta gcagtgagta aaaggctcaa
     2761 attttttttc aaaaagcata aaattaattt ttacttttat gtggtcattg gtttactgcc
     2821 acttcatttg gaaaacttgg atagattttc acctttgata tacctttgaa tatatgttac
     2881 ctgaaatata actgtgcatt gttaactctt tcatttctgt agtaaaaggt taatactaga
     2941 aaggatatgc aattaatact ttgattttct cctgacccca agagcttgta aggatatgtc
     3001 atgtatttac tggtttttct tgtatctggt gcatagccag agttccacag taacaaataa
     3061 tttgacaatt tttatttcta atgtttattt ctgttttatt tttaattttt atttctaatt
     3121 tatttcattt acaaatgttc atattttaaa aacttgtcaa tgtaaataat atgatgcatc
     3181 ttatcatgga caaggacagt gttttctacc tttatcagtt ctctgtaata cccaaaacag
     3241 tgctgtattt actccaagta ttcagaagtg cttgttgaac aaaacagtgt tatctttaat
     3301 tcattccttt aaatacatgt ttccagttta cttattcaac agattcttac ttgggattga
     3361 ctgaagaaaa aaaactttaa ttatagttga ataagtgttg actaatgtat tttaaaaact
     3421 ataatatcaa aattttttat attaaatgta attctgattt tttaaacatt tatgctatat
     3481 gatgcattat tttgtttctg tgaatatgga gagaataaat tagctctttt gctgaattca
     3541 tggatgaatg aactttaaaa ctgctgca
//
