LOCUS       NP_001182234              92 aa            linear   PRI 30-APR-2025
DEFINITION  BBSome-interacting protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_001182234 XP_001716161 XP_001725854 XP_001725855 XP_001725856
            XP_001726074 XP_001726075 XP_001726076
VERSION     NP_001182234.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 92)
  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  (residues 1 to 92)
  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  (residues 1 to 92)
  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  (residues 1 to 92)
  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  (residues 1 to 92)
  AUTHORS   Jin,H. and Nachury,M.V.
  TITLE     The BBSome
  JOURNAL   Curr Biol 19 (12), R472-R473 (2009)
   PUBMED   19549489
REFERENCE   6  (residues 1 to 92)
  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  (residues 1 to 92)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..92
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.2"
     Protein         1..92
                     /product="BBSome-interacting protein 1 isoform 2"
                     /note="BBSome-interacting protein of 10 kDa; UPF0604
                     protein"
                     /calculated_mol_wt=10375
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (A8MTZ0.2)"
     Region          23..85
                     /region_name="BBIP10"
                     /note="Cilia BBSome complex subunit 10; pfam14777"
                     /db_xref="CDD:464310"
     CDS             1..92
                     /gene="BBIP1"
                     /gene_synonym="bA348N5.3; BBIP10; BBS18; NCRNA00081"
                     /coded_by="NM_001195305.3:117..395"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS55727.1"
                     /db_xref="GeneID:92482"
                     /db_xref="HGNC:HGNC:28093"
                     /db_xref="MIM:613605"
ORIGIN      
        1 mlkaaakrpe lsgkntisnn sdmaevksmf revlpkqgpl fvedimtmvl ckpkllplks
       61 ltleklekmh qaaqntirqq emaekdqrqi th
//
