LOCUS       NP_001028300             593 aa            linear   ROD 26-MAR-2025
DEFINITION  BBSome complex member BBS1 [Mus musculus].
ACCESSION   NP_001028300 XP_355129 XP_907597 XP_907598 XP_907599 XP_907600
            XP_907601 XP_912684 XP_925574 XP_925586 XP_925587 XP_925590
            XP_925594
VERSION     NP_001028300.1
DBSOURCE    REFSEQ: accession NM_001033128.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 593)
  AUTHORS   Zhao,Y., Guo,D.F., Morgan,D.A., Cho,Y.E. and Rahmouni,K.
  TITLE     Adipocyte-specific disruption of the BBSome causes metabolic and
            autonomic dysfunction
  JOURNAL   Am J Physiol Regul Integr Comp Physiol 327 (1), R54-R65 (2024)
   PUBMED   38738295
REFERENCE   2  (residues 1 to 593)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (residues 1 to 593)
  AUTHORS   Rouabhi,Y., Guo,D.F., Zhao,Y. and Rahmouni,K.
  TITLE     Metabolic consequences of skeletal muscle- and liver-specific
            BBSome deficiency
  JOURNAL   Am J Physiol Endocrinol Metab 325 (6), E711-E722 (2023)
   PUBMED   37909854
  REMARK    Erratum:[Am J Physiol Endocrinol Metab. 2024 Oct 1;327(4):E469.
            doi: 10.1152/ajpendo.00174.2023_COR. PMID: 39352193]
REFERENCE   4  (residues 1 to 593)
  AUTHORS   Freke,G.M., Martins,T., Davies,R.J., Beyer,T., Seda,M., Peskett,E.,
            Haq,N., Prasai,A., Otto,G., Jeyabalan Srikaran,J., Hernandez,V.,
            Diwan,G.D., Russell,R.B., Ueffing,M., Huranova,M., Boldt,K.,
            Beales,P.L. and Jenkins,D.
  TITLE     De-Suppression of Mesenchymal Cell Identities and Variable
            Phenotypic Outcomes Associated with Knockout of Bbs1
  JOURNAL   Cells 12 (22), 2662 (2023)
   PUBMED   37998397
  REMARK    GeneRIF: De-Suppression of Mesenchymal Cell Identities and Variable
            Phenotypic Outcomes Associated with Knockout of Bbs1.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 593)
  AUTHORS   Hassan,S., Hsu,Y., Mayer,S.K., Thomas,J., Kothapalli,A., Helms,M.,
            Baker,S.A., Laird,J.G., Bhattarai,S. and Drack,A.V.
  TITLE     A visually guided swim assay for mouse models of human retinal
            disease recapitulates the multi-luminance mobility test in humans
  JOURNAL   Saudi J Ophthalmol 37 (4), 313-320 (2023)
   PUBMED   38155679
  REMARK    Publication Status: Online-Only
REFERENCE   6  (residues 1 to 593)
  AUTHORS   Nachury,M.V., Loktev,A.V., Zhang,Q., Westlake,C.J., Peranen,J.,
            Merdes,A., Slusarski,D.C., Scheller,R.H., Bazan,J.F.,
            Sheffield,V.C. and Jackson,P.K.
  TITLE     A core complex of BBS proteins cooperates with the GTPase Rab8 to
            promote ciliary membrane biogenesis
  JOURNAL   Cell 129 (6), 1201-1213 (2007)
   PUBMED   17574030
REFERENCE   7  (residues 1 to 593)
  AUTHORS   Forti,E., Aksanov,O. and Birk,R.Z.
  TITLE     Temporal expression pattern of Bardet-Biedl syndrome genes in
            adipogenesis
  JOURNAL   Int J Biochem Cell Biol 39 (5), 1055-1062 (2007)
   PUBMED   17379567
REFERENCE   8  (residues 1 to 593)
  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   9  (residues 1 to 593)
  AUTHORS   Ross,A.J., May-Simera,H., Eichers,E.R., Kai,M., Hill,J.,
            Jagger,D.J., Leitch,C.C., Chapple,J.P., Munro,P.M., Fisher,S.,
            Tan,P.L., Phillips,H.M., Leroux,M.R., Henderson,D.J., Murdoch,J.N.,
            Copp,A.J., Eliot,M.M., Lupski,J.R., Kemp,D.T., Dollfus,H., Tada,M.,
            Katsanis,N., Forge,A. and Beales,P.L.
  TITLE     Disruption of Bardet-Biedl syndrome ciliary proteins perturbs
            planar cell polarity in vertebrates
  JOURNAL   Nat Genet 37 (10), 1135-1140 (2005)
   PUBMED   16170314
  REMARK    Erratum:[Nat Genet. 2005 Dec;37(12):1381]
REFERENCE   10 (residues 1 to 593)
  AUTHORS   Kulaga,H.M., Leitch,C.C., Eichers,E.R., Badano,J.L., Lesemann,A.,
            Hoskins,B.E., Lupski,J.R., Beales,P.L., Reed,R.R. and Katsanis,N.
  TITLE     Loss of BBS proteins causes anosmia in humans and defects in
            olfactory cilia structure and function in the mouse
  JOURNAL   Nat Genet 36 (9), 994-998 (2004)
   PUBMED   15322545
  REMARK    GeneRIF: deletions of Bbs1 or Bbs4 affected the olfactory
            epithelium, causing severe reduction of the ciliated border,
            disorganization of the dendritic microtubule network and trapping
            of olfactory ciliary proteins in dendrites and cell bodies.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY063920.1, BC076577.1 and AK045850.1.
            
            On or before Jan 6, 2006 this sequence version replaced
            XP_907597.1, XP_907598.1, XP_355129.2, XP_907599.1, XP_907600.1,
            XP_907601.1, XP_925574.1, XP_912684.1, XP_925586.1, XP_925587.1,
            XP_925590.1, XP_925594.1.
            
            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 :: BC076577.1, AK045850.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..593
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 4.14 cM"
     Protein         1..593
                     /product="BBSome complex member BBS1"
                     /note="Bardet-Biedl syndrome 1 homolog; Bardet-Biedl
                     syndrome 1 protein homolog"
                     /calculated_mol_wt=64964
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0000250|UniProtKB:Q8NFJ9; propagated from
                     UniProtKB/Swiss-Prot (Q3V3N7.1)"
     Region          23..276
                     /region_name="BBS1"
                     /note="Ciliary BBSome complex subunit 1; pfam14779"
                     /db_xref="CDD:464312"
     CDS             1..593
                     /gene="Bbs1"
                     /gene_synonym="D19Ertd609e"
                     /coded_by="NM_001033128.3:26..1807"
                     /db_xref="CCDS:CCDS29442.1"
                     /db_xref="GeneID:52028"
                     /db_xref="MGI:MGI:1277215"
ORIGIN      
        1 maaasssdsd sgraesnean skwldahydp manihtfssc lsladlhgdg eyklvvgdlg
       61 pggqqprlkv lkgptvltes plpalpasaa tflmdqhepr tpalalasgp cvyvyknlrp
      121 yfkfslpqlp pnpleqdvwn qakedqidpl tlkemledir ekadvplsvq slrflqlels
      181 emeafvnqhk skvikrqtvi ttmttlkknl adedaasclv lgteskellv ldpeaftila
      241 kmslpsvpvf levsgqfdve frltaacrng siyilrrdsk hpkycielsa qpvglvrvhk
      301 vlvvgstqes lhgfthkgkk lwtvqmpaai ltmnlleqrs rglqavmaal angevriyrd
      361 kallnvihap davtslcfgr ygredntlim ttrgggliik ilkrtavfve gtgevgppla
      421 qttklsvprk trlyvdqtlr ereagtamhr tfqtdlyllr lraarayvqa lesslspmst
      481 tareplklha vvqglgptfk ltlhlqntst arpvlglhvc flynkalyal pqaffkvpll
      541 vpglsyplet fveslsskgi sdmikvlvlr egqsapllsa hinmpvsegl aaa
//
