LOCUS       NP_149017                519 aa            linear   PRI 27-APR-2025
DEFINITION  BBSome complex member BBS4 isoform 1 [Homo sapiens].
ACCESSION   NP_149017
VERSION     NP_149017.2
DBSOURCE    REFSEQ: accession NM_033028.5
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 519)
  AUTHORS   Zacchia,M., Blanco,F.D.V., Trepiccione,F., Blasio,G., Torella,A.,
            Melluso,A., Capolongo,G., Pollastro,R.M., Piluso,G., Di Iorio,V.,
            Simonelli,F., Viggiano,D., Perna,A., Nigro,V. and Capasso,G.
  TITLE     Nephroplex: a kidney-focused NGS panel highlights the challenges of
            PKD1 sequencing and identifies a founder BBS4 mutation
  JOURNAL   J Nephrol 34 (6), 1855-1874 (2021)
   PUBMED   33964006
  REMARK    GeneRIF: Nephroplex: a kidney-focused NGS panel highlights the
            challenges of PKD1 sequencing and identifies a founder BBS4
            mutation.
REFERENCE   2  (residues 1 to 519)
  AUTHORS   Benardais,K., Delfino,G., Samama,B., Devys,D., Antal,M.C.,
            Ghandour,M.S. and Boehm,N.
  TITLE     BBS4 protein has basal body/ciliary localization in sensory organs
            but extra-ciliary localization in oligodendrocytes during human
            development
  JOURNAL   Cell Tissue Res 385 (1), 37-48 (2021)
   PUBMED   33860840
  REMARK    GeneRIF: BBS4 protein has basal body/ciliary localization in
            sensory organs but extra-ciliary localization in oligodendrocytes
            during human development.
REFERENCE   3  (residues 1 to 519)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (residues 1 to 519)
  AUTHORS   Riise,R., Tornqvist,K., Wright,A.F., Mykytyn,K. and Sheffield,V.C.
  TITLE     The phenotype in Norwegian patients with Bardet-Biedl syndrome with
            mutations in the BBS4 gene
  JOURNAL   Arch Ophthalmol 120 (10), 1364-1367 (2002)
   PUBMED   12365916
  REMARK    GeneRIF: The phenotype of patients with BBS4 mutations consists of
            severe retinitis pigmentosa, variable obesity, brachydactyly with
            variable polydactyly, small or missing teeth, genital hypoplasia,
            and cardiovascular disease.
REFERENCE   5  (residues 1 to 519)
  AUTHORS   Katsanis,N., Eichers,E.R., Ansley,S.J., Lewis,R.A., Kayserili,H.,
            Hoskins,B.E., Scambler,P.J., Beales,P.L. and Lupski,J.R.
  TITLE     BBS4 is a minor contributor to Bardet-Biedl syndrome and may also
            participate in triallelic inheritance
  JOURNAL   Am J Hum Genet 71 (1), 22-29 (2002)
   PUBMED   12016587
  REMARK    GeneRIF: BBS4 is a minor contributor to Bardet-Biedl syndrome and
            may also participate in triallelic inheritance. Evaluated the
            spectrum of mutations in the recently identified BBS4 gene with a
            combination of haplotype analysis and mutation screening.
REFERENCE   6  (residues 1 to 519)
  AUTHORS   Mykytyn,K., Braun,T., Carmi,R., Haider,N.B., Searby,C.C.,
            Shastri,M., Beck,G., Wright,A.F., Iannaccone,A., Elbedour,K.,
            Riise,R., Baldi,A., Raas-Rothschild,A., Gorman,S.W., Duhl,D.M.,
            Jacobson,S.G., Casavant,T., Stone,E.M. and Sheffield,V.C.
  TITLE     Identification of the gene that, when mutated, causes the human
            obesity syndrome BBS4
  JOURNAL   Nat Genet 28 (2), 188-191 (2001)
   PUBMED   11381270
REFERENCE   7  (residues 1 to 519)
  AUTHORS   Bruford,E.A., Riise,R., Teague,P.W., Porter,K., Thomson,K.L.,
            Moore,A.T., Jay,M., Warburg,M., Schinzel,A., Tommerup,N.,
            Tornqvist,K., Rosenberg,T., Patton,M., Mansfield,D.C. and
            Wright,A.F.
  TITLE     Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci
            in chromosomal regions 11q13, 15q22.3-q23, and 16q21
  JOURNAL   Genomics 41 (1), 93-99 (1997)
   PUBMED   9126487
REFERENCE   8  (residues 1 to 519)
  AUTHORS   Carmi,R., Rokhlina,T., Kwitek-Black,A.E., Elbedour,K.,
            Nishimura,D., Stone,E.M. and Sheffield,V.C.
  TITLE     Use of a DNA pooling strategy to identify a human obesity syndrome
            locus on chromosome 15
  JOURNAL   Hum Mol Genet 4 (1), 9-13 (1995)
   PUBMED   7711739
REFERENCE   9  (residues 1 to 519)
  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   10 (residues 1 to 519)
  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 AC009712.22.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 29, 2002 this sequence version replaced NP_149017.1.
            
            Summary: This gene is a member of the Bardet-Biedl syndrome (BBS)
            gene family. Bardet-Biedl syndrome is an autosomal recessive
            disorder characterized by severe pigmentary retinopathy, obesity,
            polydactyly, renal malformation and cognitive disability. The
            proteins encoded by BBS gene family members are structurally
            diverse. The similar phenotypes exhibited by mutations in BBS gene
            family members are likely due to the protein's shared roles in
            cilia formation and function. Many BBS proteins localize to the
            basal bodies, ciliary axonemes, and pericentriolar regions of
            cells. BBS proteins may also be involved in intracellular
            trafficking via microtubule-related transport. The protein encoded
            by this gene has sequence similarity to O-linked
            N-acetylglucosamine (O-GlcNAc) transferases in plants and
            archaebacteria and in human forms a multi-protein 'BBSome' complex
            with seven other BBS proteins. Alternate splicing results in
            multiple transcript variants. [provided by RefSeq, Mar 2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (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 :: AF359281.1, SRR1660807.196134.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000268057.9/ ENSP00000268057.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..519
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     Protein         1..519
                     /product="BBSome complex member BBS4 isoform 1"
                     /note="bardet-Biedl syndrome 4 protein; BBSome complex
                     member BBS4"
                     /calculated_mol_wt=58151
     Region          1..66
                     /region_name="Required for localization to centrosomes"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RK4.2)"
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RK4.2)"
     Region          36..61
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          67..100
                     /region_name="TPR 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RK4.2)"
     Region          68..95
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          71..332
                     /region_name="LapB"
                     /note="Lipopolysaccharide biosynthesis regulator
                     YciM/LapB, contains six TPR domains and a C-terminal
                     metal-binding domain [Cell wall/membrane/envelope
                     biogenesis]; COG2956"
                     /db_xref="CDD:442196"
     Region          101..337
                     /region_name="Interaction with PCM1.
                     /evidence=ECO:0000269|PubMed:15107855"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RK4.2)"
     Region          101..129
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(102,105..106,109..110,112,136,139..140,143..144,
                     146..147,172..173,176..177,180)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          134..164
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          169..196
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          202..229
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          236..264
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          250..>446
                     /region_name="Spy"
                     /note="Predicted O-linked N-acetylglucosamine transferase,
                     SPINDLY family [Posttranslational modification, protein
                     turnover, chaperones]; COG3914"
                     /db_xref="CDD:443119"
     Region          270..298
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Site            order(271,274..275,278..279,281,305,308..309,312..313,
                     315..316,339,342..343,346..347,350)
                     /site_type="other"
                     /note="putative protein binding surface [polypeptide
                     binding]"
                     /db_xref="CDD:276809"
     Region          303..333
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          338..519
                     /region_name="Required for localization to centrosomes"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RK4.2)"
     Region          338..365
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          372..397
                     /region_name="TPR repeat"
                     /note="TPR repeat [structural motif]"
                     /db_xref="CDD:276809"
     Region          440..519
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96RK4.2)"
     CDS             1..519
                     /gene="BBS4"
                     /coded_by="NM_033028.5:22..1581"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10246.1"
                     /db_xref="GeneID:585"
                     /db_xref="HGNC:HGNC:969"
                     /db_xref="MIM:600374"
ORIGIN      
        1 maeervatrt qfpvstesqk prqkkapefp ilekqnwlih lhyirkdyea ckavikeqlq
       61 etqglceyai yvqalifrle gniqeslelf qtcavlspqs adnlkqvars lfllgkhkaa
      121 ievyneaakl nqkdweishn lgvcyiylkq fnkaqdqlhn alnlnrhdlt yimlgkihll
      181 egdldkaiev ykkavefspe ntellttlgl lylqlgiyqk afehlgnalt ydptnykail
      241 aagsmmqthg dfdvaltkyr vvacavpesp plwnnigmcf fgkkkyvaai sclkranyla
      301 pfdwkilynl glvhltmqqy asafhflsaa infqpkmgel ymllavaltn ledienakra
      361 yaeavhldkc nplvnlnyav llynqgekkn alaqyqemek kvsllkdnss lefdsemvem
      421 aqklgaalqv gealvwtkpv kdpkskhqtt stskpasfqq plgsnqalgq amssaaayrt
      481 lpsgaggtsq ftkppslple pepavesspt etseqirek
//
