LOCUS       NM_001195305            2025 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens BBSome interacting protein 1 (BBIP1), transcript
            variant 2, mRNA.
ACCESSION   NM_001195305 NR_015402 XM_001716109 XM_001725802 XM_001725803
            XM_001725804 XM_001726022 XM_001726023 XM_001726024
VERSION     NM_001195305.3
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 2025)
  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 2025)
  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 2025)
  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 2025)
  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 2025)
  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 2025)
  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 2025)
  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 BC073157.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_001195305.2.
            
            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 (2) lacks an alternate exon in the
            3' coding region compared to variant 1, which results in a
            frameshift. The resulting protein (isoform 2) is shorter and has a
            distinct C-terminus compared to isoform 1. Variants 2 and 3 encode
            the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC073157.1, AK025724.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000448814.7/ ENSP00000436622.2
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2025              BC073157.1         96-2120
FEATURES             Location/Qualifiers
     source          1..2025
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.2"
     gene            1..2025
                     /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..395
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="isoform 2 is encoded by transcript variant 2;
                     BBSome-interacting protein of 10 kDa; UPF0604 protein"
                     /codon_start=1
                     /product="BBSome-interacting protein 1 isoform 2"
                     /protein_id="NP_001182234.1"
                     /db_xref="CCDS:CCDS55727.1"
                     /db_xref="GeneID:92482"
                     /db_xref="HGNC:HGNC:28093"
                     /db_xref="MIM:613605"
                     /translation="MLKAAAKRPELSGKNTISNNSDMAEVKSMFREVLPKQGPLFVED
                     IMTMVLCKPKLLPLKSLTLEKLEKMHQAAQNTIRQQEMAEKDQRQITH"
     exon            154..228
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /inference="alignment:Splign:2.1.0"
     exon            229..2025
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /inference="alignment:Splign:2.1.0"
     regulatory      645..650
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="hexamer: ATTAAA"
     polyA_site      664
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="major polyA site"
     regulatory      846..851
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="hexamer: AACAAA"
     polyA_site      864
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="major polyA site"
     regulatory      2003..2008
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /note="hexamer: AATAAA"
     polyA_site      2025
                     /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 caggaaaaaa cactatatcc aacaactcag
      181 atatggcaga agtgaagtca atgttccggg aagttcttcc aaagcaaggg ccactgtttg
      241 tggaagatat aatgacaatg gtgctgtgta aacccaaact tttaccctta aaatctctga
      301 ctctggaaaa actagagaaa atgcatcaag cagcacagaa tacaattcgc caacaagaaa
      361 tggcagaaaa ggatcaacgg caaataaccc actgaatgat aactgagcac tttagggaac
      421 aacctgcctt atctactatt taacaataac tagaaaatat gcttctgtgt gctgaaagta
      481 gtatgtgtta tcaataaaat tgatagtatt catagaaata caaaaatatc caagattgat
      541 gaaatttgta ttgtgaatgt aaacactctg gtttgtattg aacataaaca gttaaactat
      601 gaaccaagtt ttatggggtt taagtcatgt ttttagaatt gcaaattaaa ttatttgttc
      661 accattccta ttgctatctt ttatagataa cattcttggg atcttttata gcattcttgg
      721 gcacaaggga ttaaatacaa cttttatata cagaggatct ttacatgttt attaaatctg
      781 aatttgaaga tacattccaa tcttgcataa agtgtttgtt gggcttttac attacgtaat
      841 taaaaaacaa aattttttaa ccaattttat gtgccatgtc acgtttaatg ctatcttgtg
      901 tgaccagatc ccaccagtaa tgacaaaact gtcttaaacc tcattttttt ttttttttga
      961 gacaagagtt tcactcttgt tgcccaaacg agagcaatgg caccatctcg actcactgca
     1021 acctctgcct cccaggttca agcaattctc ctgcctcagc ctcccaagta gctgggatta
     1081 cacgcatgcg ccaccatgcc tggctacttt tgtattttta atagagacag ggtttcttca
     1141 tgttggtcaa gctggtcatg aactcccaac ctcaagtgat ccgcccacct cggcctccca
     1201 aagtgctggg attacaggca tgagccaccg tgcccagccc ttaaatctca tttttaagaa
     1261 accctcacct attctgtagt cagctaagct tttaattaca ttaattttaa gcacttgaga
     1321 ataaaatgac tgcatttatc atccaagtgt caaacaatta aaaacctaaa aatggtaact
     1381 atatataagc tgaggtaata tgggcttgat aaagcccatg aggtaaatat gaacactaaa
     1441 cttggtttta attctaacag actatatcta aacctgtaag cagtatactc ctaacagtac
     1501 cctcataaat tctgaatata attcttgttt gctgcagtca atatttggca gtttaaatta
     1561 gcacagacgt tgaggccttg ctgagttatt aggctatgta aaagaggtta aaaatatgat
     1621 cattctttat tgttaattgg taatattttc tcatacatta ggtaaatgtc aagctttggg
     1681 tctctggagt ataacttttt gtaacattag ccattatttg gtaacagaat ttaaggatga
     1741 tggaatgatg gaaggtatta catatttcta aaacttaatt aagctctagg tcagataaca
     1801 atggagtaaa gtgatacctg catttttttc cccagtgtaa tcttaattta ctattgtatt
     1861 tttcacttaa aattttgtag ggaaaaaaag ttttcaaggg aacactaaga ttaaattgac
     1921 taggttcaaa tatgcttcct tatgagattc aaaatttact gtgtgaaatt aaagtttaag
     1981 agacctaaaa aaatgtactc ccaataaaga atcaatactg cttca
//
