LOCUS       NM_152618               3238 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant
            2, mRNA.
ACCESSION   NM_152618
VERSION     NM_152618.3
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 3238)
  AUTHORS   Khan,S., Focsa,I.O., Budisteanu,M., Stoica,C., Nedelea,F.,
            Bohiltea,L., Caba,L., Butnariu,L., Panzaru,M., Rusu,C., Jurca,C.,
            Chirita-Emandi,A., Banescu,C., Abbas,W., Sadeghpour,A., Baig,S.M.,
            Balgradean,M. and Davis,E.E.
  TITLE     Exome sequencing in a Romanian Bardet-Biedl syndrome cohort
            revealed an overabundance of causal BBS12 variants
  JOURNAL   Am J Med Genet A 191 (9), 2376-2391 (2023)
   PUBMED   37293956
  REMARK    GeneRIF: Exome sequencing in a Romanian Bardet-Biedl syndrome
            cohort revealed an overabundance of causal BBS12 variants.
REFERENCE   2  (bases 1 to 3238)
  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 3238)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 3238)
  AUTHORS   Hulleman,J.D., Nguyen,A., Ramprasad,V.L., Murugan,S., Gupta,R.,
            Mahindrakar,A., Angara,R., Sankurathri,C. and Mootha,V.V.
  TITLE     A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and
            polydactyly without other findings of Bardet-Biedl or
            McKusick-Kaufman syndrome
  JOURNAL   Mol Vis 22, 73-81 (2016)
   PUBMED   26900326
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3238)
  AUTHORS   Mukherjee,K., Conway de Macario,E., Macario,A.J. and Brocchieri,L.
  TITLE     Chaperonin genes on the rise: new divergent classes and intense
            duplication in human and other vertebrate genomes
  JOURNAL   BMC Evol Biol 10, 64 (2010)
   PUBMED   20193073
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3238)
  AUTHORS   Seo,S., Baye,L.M., Schulz,N.P., Beck,J.S., Zhang,Q., Slusarski,D.C.
            and Sheffield,V.C.
  TITLE     BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family
            chaperonins and mediate BBSome assembly
  JOURNAL   Proc Natl Acad Sci U S A 107 (4), 1488-1493 (2010)
   PUBMED   20080638
REFERENCE   7  (bases 1 to 3238)
  AUTHORS   Marion,V., Stoetzel,C., Schlicht,D., Messaddeq,N., Koch,M.,
            Flori,E., Danse,J.M., Mandel,J.L. and Dollfus,H.
  TITLE     Transient ciliogenesis involving Bardet-Biedl syndrome proteins is
            a fundamental characteristic of adipogenic differentiation
  JOURNAL   Proc Natl Acad Sci U S A 106 (6), 1820-1825 (2009)
   PUBMED   19190184
  REMARK    GeneRIF: the BBS10 and BBS12 proteins are located within the basal
            body of this primary cilium and inhibition of their expression
            impairs ciliogenesis, activates the GSK3 pathway, and induces PPAR
            nuclear accumulation, hence favoring adipogenesis
REFERENCE   8  (bases 1 to 3238)
  AUTHORS   Stoetzel,C., Muller,J., Laurier,V., Davis,E.E., Zaghloul,N.A.,
            Vicaire,S., Jacquelin,C., Plewniak,F., Leitch,C.C., Sarda,P.,
            Hamel,C., de Ravel,T.J., Lewis,R.A., Friederich,E., Thibault,C.,
            Danse,J.M., Verloes,A., Bonneau,D., Katsanis,N., Poch,O.,
            Mandel,J.L. and Dollfus,H.
  TITLE     Identification of a novel BBS gene (BBS12) highlights the major
            role of a vertebrate-specific branch of chaperonin-related proteins
            in Bardet-Biedl syndrome
  JOURNAL   Am J Hum Genet 80 (1), 1-11 (2007)
   PUBMED   17160889
  REMARK    GeneRIF: BBS12 accounts for approximately 5% of all BBS cases and
            defines a novel branch of the type II chaperonin superfamily
REFERENCE   9  (bases 1 to 3238)
  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 3238)
  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 AK123553.1, BX538148.1 and
            AK092949.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_152618.2.
            
            Summary: The protein encoded by this gene is part of a complex that
            is involved in membrane trafficking. The encoded protein is a
            molecular chaperone that aids in protein folding upon ATP
            hydrolysis. This protein also plays a role in adipocyte
            differentiation. Defects in this gene are a cause of Bardet-Biedl
            syndrome type 12. Two transcript variants encoding the same protein
            have been found for this gene. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants encode the same protein.
            
            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 :: BC055426.1, AK123553.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314218.8/ ENSP00000319062.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-484               AK123553.1         3-486
            485-999             BX538148.1         426-940
            1000-1864           AK092949.1         116-980
            1865-2062           BX538148.1         1806-2003
            2063-2571           AK123553.1         2065-2573
            2572-3109           BX538148.1         2514-3051
            3110-3199           AK092949.1         2225-2314
            3200-3238           BX538148.1         3142-3180
FEATURES             Location/Qualifiers
     source          1..3238
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q27"
     gene            1..3238
                     /gene="BBS12"
                     /gene_synonym="C4orf24"
                     /note="Bardet-Biedl syndrome 12"
                     /db_xref="GeneID:166379"
                     /db_xref="HGNC:HGNC:26648"
                     /db_xref="MIM:610683"
     exon            1..181
                     /gene="BBS12"
                     /gene_synonym="C4orf24"
                     /inference="alignment:Splign:2.1.0"
     exon            182..3238
                     /gene="BBS12"
                     /gene_synonym="C4orf24"
                     /inference="alignment:Splign:2.1.0"
     CDS             192..2324
                     /gene="BBS12"
                     /gene_synonym="C4orf24"
                     /codon_start=1
                     /product="chaperonin-containing T-complex member BBS12"
                     /protein_id="NP_689831.2"
                     /db_xref="CCDS:CCDS3728.1"
                     /db_xref="GeneID:166379"
                     /db_xref="HGNC:HGNC:26648"
                     /db_xref="MIM:610683"
                     /translation="MVMACRVVNKRRHMGLQQLSSFAETGRTFLGPLKSSKFIIDEEC
                     HESVLISSTVRLLESLDLTSAVGQLLNEAVQAQNNTYRTGISTLLFLVGAWSSAVEEC
                     LHLGVPISIIVSVMSEGLNFCSEEVVSLHVPVHNIFDCMDSTKTFSQLETFSVSLCPF
                     LQVPSDTDLIEELHGLKDVASQTLTISNLSGRPLKSYELFKPQTKVEADNNTSRTLKN
                     SLLADTCCRQSILIHSRHFNRTDNTEGVSKPDGFQEHVTATHKTYRCNDLVELAVGLS
                     HGDHSSMKLVEEAVQLQYQNACVQQGNCTKPFMFDISRIFTCCLPGLPETSSCVCPGY
                     ITVVSVSNNPVIKELQNQPVRIVLIEGDLTENYRHLGFNKSANIKTVLDSMRLQEDSS
                     EELWANHVLQVLIQFKVNLVLVQGNVSERLIEKCINSKRLVIGSVNGSVMQAFAEAAG
                     AVQVAYITQVNEDCVGDGVCVTFWRSSPLDVVDRNNRIAILLKTEGINLVTAVLTNPV
                     TAQMQIKEDRFWTCAYRLYYALKEEKVFLGGGAVEFLCLSCLHILAEQSLKKENHACS
                     GWLHNTSSWLASSLAIYRPTVLKFLANGWQKYLSTLLYNTANYSSEFEASTYIQHHLQ
                     NATDSGSPSSYILNEYSKLNSRIFNSDISNKLEQIPRVYDVVTPKIEAWRRALDLVLL
                     VLQTDSEIITGHGHTQINSQELTGFLFL"
     regulatory      2381..2386
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS12"
                     /gene_synonym="C4orf24"
                     /note="hexamer: AATATA"
     polyA_site      2397
                     /gene="BBS12"
                     /gene_synonym="C4orf24"
                     /note="major polyA site"
     regulatory      3218..3223
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS12"
                     /gene_synonym="C4orf24"
                     /note="hexamer: AATAAA"
     polyA_site      3238
                     /gene="BBS12"
                     /gene_synonym="C4orf24"
ORIGIN      
        1 ctcttagcaa ctaagccccc ggctcctcca gaagcccctc ttcgcacatg cgcaaactgc
       61 ggacggggaa ctgggctccc tagccctggc gtttttggtg ttgctgtccc agccagaatc
      121 gcgtctggcc ggtgggaagc cgggaactcc agccccctgt aggagaggag aaaggagcga
      181 gatcatgata catggtgatg gcttgcagag tcgtaaacaa aagaagacac atgggacttc
      241 aacaactttc atcattcgcg gaaacaggaa gaactttcct aggcccacta aaatcatcca
      301 aatttattat agatgaagaa tgtcatgaaa gtgtattaat cagttcaaca gtaaggcttc
      361 ttgaaagttt ggatttaacc agtgcagtgg gacaacttct caatgaagca gttcaagcac
      421 aaaacaacac atatagaact ggaatcagta ctcttttgtt tcttgttggt gcttggagca
      481 gtgcagttga agaatgtctt catcttggtg tccccatttc cataatagta tcagtaatgt
      541 cagaaggctt aaacttttgt agtgaagagg tagtttctct tcatgtacct gttcacaata
      601 tatttgactg tatggacagc acaaaaacat tttctcaact tgaaacattt agtgtaagtt
      661 tgtgtccttt tctacaggtc ccttcagata ctgatttgat agaggaattg catggtctca
      721 aagatgttgc ctctcaaaca ctgaccattt ccaacctttc tgggagacct cttaaatcat
      781 atgaattatt taaacctcag acaaaggttg aagcagataa caacacatca cgaactctga
      841 aaaacagcct gcttgcagat acctgctgca gacagtcaat actaatccac agtaggcatt
      901 ttaataggac agataatact gaaggggtaa gcaaaccaga tggatttcaa gaacatgtta
      961 cagctactca caaaacttac agatgtaatg atttggtaga gttggcagta ggcttgagtc
     1021 atggagatca cagcagcatg aagttagtag aagaagcagt acagctgcaa tatcagaatg
     1081 cttgtgtgca acaaggcaac tgtacaaaac catttatgtt tgacatttca agaattttca
     1141 cttgctgtct accaggctta cctgaaactt cttcttgtgt ttgtccagga tatatcactg
     1201 ttgtgtcagt atctaataat cctgtgatca aggaattgca gaatcagcct gtgcgaatag
     1261 ttctcattga gggtgacctc acagagaatt accgccacct gggatttaat aagtctgcaa
     1321 atattaaaac agtattagat agcatgcggc ttcaagaaga cagctcagaa gaactgtggg
     1381 caaatcacgt gttacaggtg ttaatccagt tcaaggtgaa ccttgtcctg gtacaaggaa
     1441 atgtgtccga acgcttaatt gaaaaatgta taaacagtaa gcggttggta atcggctcag
     1501 tgaatggcag tgtgatgcag gcttttgcag aggctgcagg agcagtacag gtggcctaca
     1561 ttacacaagt gaatgaagat tgtgtgggcg acggggtctg cgtgaccttc tggagaagca
     1621 gccctttgga tgttgtagat aggaacaaca gaatcgcaat cttattaaaa acagaaggaa
     1681 ttaatttggt tacggccgtg ctcactaacc cagttactgc acagatgcaa atcaaagaag
     1741 ataggttctg gacatgtgcc tatcgtttgt attatgctct aaaagaggaa aaggtcttcc
     1801 ttggaggtgg tgcagttgaa tttttgtgtc ttagctgtct tcatattctt gcagagcaat
     1861 ctctgaaaaa agaaaaccat gcctgctcag ggtggctgca taatacttcc tcttggctgg
     1921 cttcatctct ggcaatatac agaccaactg tgcttaaatt cctggcaaat ggatggcaga
     1981 aatacctttc aactctccta tataacactg ccaattactc atcagaattt gaagccagca
     2041 catacattca acatcatctg caaaatgcca cagactctgg ctctccttca tcttacatct
     2101 tgaatgaata tagtaaacta aatagtagaa tttttaattc agacatttca aataaactgg
     2161 agcagattcc gagagtttat gacgttgtta caccaaagat tgaggcgtgg cgccgagcat
     2221 tggatttagt attgttagta cttcagacag acagtgaaat aattactgga catggacaca
     2281 cacagataaa ttcacaggaa ttaacgggct ttctattttt gtagtgttac tggctaagtc
     2341 tttggaaaat aatttttcat aatatgtcat gctaataata aatatattga tagccaagtc
     2401 atggtgccta aaatgccagc tattgccaag aagaaaatag ttgatgtctg tcaataactg
     2461 tgcatggtct gagattttac cctacttata agctaacaag ttagcctgtt actgtttcgt
     2521 gggatgctac agaatgcata agacacctgg gtcagaaaca aaggacttat cgctcacagc
     2581 aaaagctgta gccagagctt catgttggtt ttattcagtt cctcattttt ctagttccca
     2641 caggaggaac acaaagggcc catgatgaaa gcctgcacac agtgggttat gttgtaagct
     2701 tgggttatta actgctttta tagtaagcaa aaaaatcctg gtctttgtcc aaagggagtt
     2761 attaccccat acttgaagat agcttagtgt aaacacaagc ctaggacatg gactaggtaa
     2821 agacaaagtc cttgcattct tgacataccc agtaagtatg cagggacact cagagcccat
     2881 agtggatagt ctcttccaac agtctgctcc tcagcctgag atgttcttgg ccaaacttga
     2941 attttcacat gagtatgcca ctctatcagc tactctgatt aacctgacag tcgggttgtt
     3001 tagtcagtac caaatttgtt catttggtct catatagcaa ttaatgcagg ctattatcag
     3061 acacagcagc aggatgaagc caacctgcag tattaacctc agtcctgtcc cccaaggtct
     3121 tgactcaatc aactctaagt tccaagggag gaccaatagg tctttttatt aggcagccag
     3181 aatgtagtga aggacaattt attatacttt atgacccaat aaagggagct ttgactga
//
