LOCUS       NP_078925                593 aa            linear   PRI 27-APR-2025
DEFINITION  BBSome complex member BBS1 [Homo sapiens].
ACCESSION   NP_078925
VERSION     NP_078925.3
DBSOURCE    REFSEQ: accession NM_024649.5
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 593)
  AUTHORS   Alghaith,F.A., MacKay,S., Wallace,K., Locke,J., Robitaille,J.M.,
            Dyack,S. and Arts,H.H.
  TITLE     Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince
            Edward Island
  JOURNAL   Clin Genet 104 (6), 713-715 (2023)
   PUBMED   37612261
  REMARK    GeneRIF: Recurrence of a BBS1 variant in Bardet-Biedl patients from
            Prince Edward Island.
REFERENCE   2  (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   3  (residues 1 to 593)
  AUTHORS   Viehl,L., Wegner,D.J., Hmiel,S.P., White,F.V., Jain,S., Cole,F.S.
            and Wambach,J.A.
  TITLE     Lethal neonatal respiratory failure due to biallelic variants in
            BBS1 and monoallelic variant in TTC21B
  JOURNAL   Pediatr Nephrol 38 (2), 605-609 (2023)
   PUBMED   35695966
  REMARK    GeneRIF: Lethal neonatal respiratory failure due to biallelic
            variants in BBS1 and monoallelic variant in TTC21B.
REFERENCE   4  (residues 1 to 593)
  AUTHORS   Grudzinska Pechhacker,M.K., Jacobson,S.G., Drack,A.V., Scipio,M.D.,
            Strubbe,I., Pfeifer,W., Duncan,J.L., Dollfus,H., Goetz,N.,
            Muller,J., Vincent,A.L., Aleman,T.S., Tumber,A., Van
            Cauwenbergh,C., De Baere,E., Bedoukian,E., Leroy,B.P., Maynes,J.T.,
            Munier,F.L., Tavares,E., Saleh,E., Vincent,A. and Heon,E.
  TITLE     Comparative Natural History of Visual Function From Patients With
            Biallelic Variants in BBS1 and BBS10
  JOURNAL   Invest Ophthalmol Vis Sci 62 (15), 26 (2021)
   PUBMED   34940782
  REMARK    GeneRIF: Comparative Natural History of Visual Function From
            Patients With Biallelic Variants in BBS1 and BBS10.
REFERENCE   5  (residues 1 to 593)
  AUTHORS   Young,T.L., Woods,M.O., Parfrey,P.S., Green,J.S., Hefferton,D. and
            Davidson,W.S.
  TITLE     A founder effect in the newfoundland population reduces the
            Bardet-Biedl syndrome I (BBS1) interval to 1 cM
  JOURNAL   Am J Hum Genet 65 (6), 1680-1687 (1999)
   PUBMED   10577922
REFERENCE   6  (residues 1 to 593)
  AUTHORS   Katsanis,N., Lewis,R.A., Stockton,D.W., Mai,P.M., Baird,L.,
            Beales,P.L., Leppert,M. and Lupski,J.R.
  TITLE     Delineation of the critical interval of Bardet-Biedl syndrome 1
            (BBS1) to a small region of 11q13, through linkage and haplotype
            analysis of 91 pedigrees
  JOURNAL   Am J Hum Genet 65 (6), 1672-1679 (1999)
   PUBMED   10577921
REFERENCE   7  (residues 1 to 593)
  AUTHORS   Beales,P.L., Warner,A.M., Hitman,G.A., Thakker,R. and Flinter,F.A.
  TITLE     Bardet-Biedl syndrome: a molecular and phenotypic study of 18
            families
  JOURNAL   J Med Genet 34 (2), 92-98 (1997)
   PUBMED   9039982
REFERENCE   8  (residues 1 to 593)
  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   9  (residues 1 to 593)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (residues 1 to 593)
  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 AP002748.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 16, 2003 this sequence version replaced NP_078925.2.
            
            Summary: Mutations in this gene have been observed in patients with
            the major form (type 1) of Bardet-Biedl syndrome. The encoded
            protein may play a role in eye, limb, cardiac and reproductive
            system development. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1803617.173357.1, BX647612.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318312.12/ ENSP00000317469.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..593
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     Protein         1..593
                     /product="BBSome complex member BBS1"
                     /note="bardet-Biedl syndrome 1 protein; BBS2-like protein
                     2"
                     /calculated_mol_wt=64953
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylalanine.
                     /evidence=ECO:0007744|PubMed:19413330; propagated from
                     UniProtKB/Swiss-Prot (Q8NFJ9.1)"
     Region          23..276
                     /region_name="BBS1"
                     /note="Ciliary BBSome complex subunit 1; pfam14779"
                     /db_xref="CDD:464312"
     CDS             1..593
                     /gene="BBS1"
                     /gene_synonym="BBS2L2"
                     /coded_by="NM_024649.5:26..1807"
                     /db_xref="CCDS:CCDS8142.1"
                     /db_xref="GeneID:582"
                     /db_xref="HGNC:HGNC:966"
                     /db_xref="MIM:209901"
ORIGIN      
        1 maaasssdsd acgaesnean skwldahydp manihtfsac laladlhgdg eyklvvgdlg
       61 pggqqprlkv lkgplvmtes plpalpaaaa tflmeqhepr tpalalasgp cvyvyknlrp
      121 yfkfslpqlp pnpleqdlwn qakedridpl tlkemlesir etaeeplsiq slrflqlels
      181 emeafvnqhk snsikrqtvi ttmttlkknl adedavsclv lgtenkellv ldpeaftila
      241 kmslpsvpvf levsgqfdve frlaaacrng niyilrrdsk hpkycielsa qpvglirvhk
      301 vlvvgstqds lhgfthkgkk lwtvqmpaai ltmnlleqhs rglqavmagl angevriyrd
      361 kallnvihtp davtslcfgr ygredntlim ttrgggliik ilkrtavfve ggsevgpppa
      421 qamklnvprk trlyvdqtlr ereagtamhr afqtdlyllr lraaraylqa lesslsplst
      481 tareplklha vvqglgptfk ltlhlqntst trpvlgllvc flynealysl praffkvpll
      541 vpglnyplet fveslsnkgi sdiikvlvlr egqsapllsa hvnmpgsegl aaa
//
