LOCUS       NM_001195304            2182 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens BBSome interacting protein 1 (BBIP1), transcript
            variant 1, mRNA.
ACCESSION   NM_001195304 NR_024140
VERSION     NM_001195304.2
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 2182)
  AUTHORS   Woodsmith,J., Apelt,L., Casado-Medrano,V., Ozkan,Z., Timmermann,B.
            and Stelzl,U.
  TITLE     Protein interaction perturbation profiling at amino-acid resolution
  JOURNAL   Nat Methods 14 (12), 1213-1221 (2017)
   PUBMED   29039417
REFERENCE   2  (bases 1 to 2182)
  AUTHORS   Scheidecker,S., Etard,C., Pierce,N.W., Geoffroy,V., Schaefer,E.,
            Muller,J., Chennen,K., Flori,E., Pelletier,V., Poch,O., Marion,V.,
            Stoetzel,C., Strahle,U., Nachury,M.V. and Dollfus,H.
  TITLE     Exome sequencing of Bardet-Biedl syndrome patient identifies a null
            mutation in the BBSome subunit BBIP1 (BBS18)
  JOURNAL   J Med Genet 51 (2), 132-136 (2014)
   PUBMED   24026985
  REMARK    GeneRIF: Identification of BBIP1 as the 18th BBS gene (BBS18),
            BBSome assembly may represent a unifying pathomechanism for
            Bardet-Biedl syndrome.
REFERENCE   3  (bases 1 to 2182)
  AUTHORS   Zhang,Q., Yu,D., Seo,S., Stone,E.M. and Sheffield,V.C.
  TITLE     Intrinsic protein-protein interaction-mediated and
            chaperonin-assisted sequential assembly of stable bardet-biedl
            syndrome protein complex, the BBSome
  JOURNAL   J Biol Chem 287 (24), 20625-20635 (2012)
   PUBMED   22500027
REFERENCE   4  (bases 1 to 2182)
  AUTHORS   Jin,H., White,S.R., Shida,T., Schulz,S., Aguiar,M., Gygi,S.P.,
            Bazan,J.F. and Nachury,M.V.
  TITLE     The conserved Bardet-Biedl syndrome proteins assemble a coat that
            traffics membrane proteins to cilia
  JOURNAL   Cell 141 (7), 1208-1219 (2010)
   PUBMED   20603001
REFERENCE   5  (bases 1 to 2182)
  AUTHORS   Jin,H. and Nachury,M.V.
  TITLE     The BBSome
  JOURNAL   Curr Biol 19 (12), R472-R473 (2009)
   PUBMED   19549489
REFERENCE   6  (bases 1 to 2182)
  AUTHORS   Loktev,A.V., Zhang,Q., Beck,J.S., Searby,C.C., Scheetz,T.E.,
            Bazan,J.F., Slusarski,D.C., Sheffield,V.C., Jackson,P.K. and
            Nachury,M.V.
  TITLE     A BBSome subunit links ciliogenesis, microtubule stability, and
            acetylation
  JOURNAL   Dev Cell 15 (6), 854-865 (2008)
   PUBMED   19081074
REFERENCE   7  (bases 1 to 2182)
  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 BC105804.1 and AL158163.11.
            
            On Nov 30, 2019 this sequence version replaced NM_001195304.1.
            
            Summary: This gene encodes one of eight proteins that form the
            BBSome complex and is essential for its assembly. The BBSome
            complex is involved in trafficking signal receptors to and from the
            cilia. Mutations in this gene result in Bardet-Biedl syndrome 18.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Oct 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (isoform 1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.163193.1, AK307314.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1021              BC105804.1         26-1046
            1022-2182           AL158163.11        16258-17418         c
FEATURES             Location/Qualifiers
     source          1..2182
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.2"
     gene            1..2182
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="BBSome interacting protein 1"
                     /db_xref="GeneID:92482"
                     /db_xref="HGNC:HGNC:28093"
                     /db_xref="MIM:613605"
     exon            1..60
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /inference="alignment:Splign:2.1.0"
     exon            61..153
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..428
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BBSome-interacting protein of 10 kDa; UPF0604 protein"
                     /codon_start=1
                     /product="BBSome-interacting protein 1 isoform 1"
                     /protein_id="NP_001182233.1"
                     /db_xref="CCDS:CCDS55728.1"
                     /db_xref="GeneID:92482"
                     /db_xref="HGNC:HGNC:28093"
                     /db_xref="MIM:613605"
                     /translation="MLKAAAKRPELSGLLKFNNYGILSESPLTSQRTTWLLYQSPSFI
                     PGFAYPSRCLKTIGGVYKQARKKHYIQQLRYGRSEVNVPGSSSKARATVCGRYNDNGA
                     V"
     exon            154..310
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /inference="alignment:Splign:2.1.0"
     exon            311..385
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /inference="alignment:Splign:2.1.0"
     exon            386..2182
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /inference="alignment:Splign:2.1.0"
     regulatory      802..807
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="hexamer: ATTAAA"
     polyA_site      821
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="major polyA site"
     regulatory      1003..1008
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="hexamer: AACAAA"
     polyA_site      1021
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="major polyA site"
     regulatory      2160..2165
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="hexamer: AATAAA"
     polyA_site      2182
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="major polyA site"
ORIGIN      
        1 cttcgccagt ctcaccgtta cccggggcaa cagctgagcc gtctgggaag ggatgcatct
       61 tttcttctgt atgcttgagt caagaactct aagtcatctt ggtaataccg ggttggatgc
      121 ttaaagctgc agcaaaaaga ccagaacttt cagggcttct caaatttaat aactatggaa
      181 tcttatcaga aagtccatta acatctcaaa gaacaacgtg gttattgtat caatcaccat
      241 cctttatacc aggatttgca tatccttcaa gatgcctgaa gacaatcgga ggggtataca
      301 agcaagcgag gaaaaaacac tatatccaac aactcagata tggcagaagt gaagtcaatg
      361 ttccgggaag ttcttccaaa gcaagggcca ctgtttgtgg aagatataat gacaatggtg
      421 ctgtgtaaac ccaaactttt acccttaaaa tctctgactc tggaaaaact agagaaaatg
      481 catcaagcag cacagaatac aattcgccaa caagaaatgg cagaaaagga tcaacggcaa
      541 ataacccact gaatgataac tgagcacttt agggaacaac ctgccttatc tactatttaa
      601 caataactag aaaatatgct tctgtgtgct gaaagtagta tgtgttatca ataaaattga
      661 tagtattcat agaaatacaa aaatatccaa gattgatgaa atttgtattg tgaatgtaaa
      721 cactctggtt tgtattgaac ataaacagtt aaactatgaa ccaagtttta tggggtttaa
      781 gtcatgtttt tagaattgca aattaaatta tttgttcacc attcctattg ctatctttta
      841 tagataacat tcttgggatc ttttatagca ttcttgggca caagggatta aatacaactt
      901 ttatatacag aggatcttta catgtttatt aaatctgaat ttgaagatac attccaatct
      961 tgcataaagt gtttgttggg cttttacatt acgtaattaa aaaacaaaat tttttaacca
     1021 attttatgtg ccatgtcacg tttaatgcta tcttgtgtga ccagatccca ccagtaatga
     1081 caaaactgtc ttaaacctca tttttttttt tttttgagac aagagtttca ctcttgttgc
     1141 ccaaacgaga gcaatggcac catctcgact cactgcaacc tctgcctccc aggttcaagc
     1201 aattctcctg cctcagcctc ccaagtagct gggattacac gcatgcgcca ccatgcctgg
     1261 ctacttttgt atttttaata gagacagggt ttcttcatgt tggtcaagct ggtcatgaac
     1321 tcccaacctc aagtgatccg cccacctcgg cctcccaaag tgctgggatt acaggcatga
     1381 gccaccgtgc ccagccctta aatctcattt ttaagaaacc ctcacctatt ctgtagtcag
     1441 ctaagctttt aattacatta attttaagca cttgagaata aaatgactgc atttatcatc
     1501 caagtgtcaa acaattaaaa acctaaaaat ggtaactata tataagctga ggtaatatgg
     1561 gcttgataaa gcccatgagg taaatatgaa cactaaactt ggttttaatt ctaacagact
     1621 atatctaaac ctgtaagcag tatactccta acagtaccct cataaattct gaatataatt
     1681 cttgtttgct gcagtcaata tttggcagtt taaattagca cagacgttga ggccttgctg
     1741 agttattagg ctatgtaaaa gaggttaaaa atatgatcat tctttattgt taattggtaa
     1801 tattttctca tacattaggt aaatgtcaag ctttgggtct ctggagtata actttttgta
     1861 acattagcca ttatttggta acagaattta aggatgatgg aatgatggaa ggtattacat
     1921 atttctaaaa cttaattaag ctctaggtca gataacaatg gagtaaagtg atacctgcat
     1981 ttttttcccc agtgtaatct taatttacta ttgtattttt cacttaaaat tttgtaggga
     2041 aaaaaagttt tcaagggaac actaagatta aattgactag gttcaaatat gcttccttat
     2101 gagattcaaa atttactgtg tgaaattaaa gtttaagaga cctaaaaaaa tgtactccca
     2161 ataaagaatc aatactgctt ca
//
