LOCUS       NM_033028               2467 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 1,
            mRNA.
ACCESSION   NM_033028
VERSION     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  (bases 1 to 2467)
  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  (bases 1 to 2467)
  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  (bases 1 to 2467)
  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  (bases 1 to 2467)
  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  (bases 1 to 2467)
  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  (bases 1 to 2467)
  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  (bases 1 to 2467)
  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  (bases 1 to 2467)
  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  (bases 1 to 2467)
  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 (bases 1 to 2467)
  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 23, 2018 this sequence version replaced NM_033028.4.
            
            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##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                AC009712.22        71741-71785
            46-97               AC009712.22        80711-80762
            98-177              AC009712.22        95234-95313
            178-241             AC009712.22        97778-97841
            242-353             AC009712.22        100825-100936
            354-426             AC009712.22        102312-102384
            427-480             AC009712.22        108328-108381
            481-608             AC009712.22        110062-110189
            609-663             AC009712.22        113474-113528
            664-732             AC009712.22        115150-115218
            733-885             AC009712.22        116839-116991
            886-1057            AC009712.22        117089-117260
            1058-1127           AC009712.22        120647-120716
            1128-1269           AC009712.22        121359-121500
            1270-1471           AC009712.22        122296-122497
            1472-2467           AC009712.22        123012-124007
FEATURES             Location/Qualifiers
     source          1..2467
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q24.1"
     gene            1..2467
                     /gene="BBS4"
                     /note="Bardet-Biedl syndrome 4"
                     /db_xref="GeneID:585"
                     /db_xref="HGNC:HGNC:969"
                     /db_xref="MIM:600374"
     exon            1..45
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..1581
                     /gene="BBS4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     bardet-Biedl syndrome 4 protein; BBSome complex member
                     BBS4"
                     /codon_start=1
                     /product="BBSome complex member BBS4 isoform 1"
                     /protein_id="NP_149017.2"
                     /db_xref="CCDS:CCDS10246.1"
                     /db_xref="GeneID:585"
                     /db_xref="HGNC:HGNC:969"
                     /db_xref="MIM:600374"
                     /translation="MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYI
                     RKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSAD
                     NLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHN
                     ALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIY
                     QKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNI
                     GMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQ
                     PKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNAL
                     AQYQEMEKKVSLLKDNSSLEFDSEMVEMAQKLGAALQVGEALVWTKPVKDPKSKHQTT
                     STSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQFTKPPSLPLEPEPAVESS
                     PTETSEQIREK"
     exon            46..97
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            98..177
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            178..241
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            242..353
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            354..426
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            427..480
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            481..608
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            609..663
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            664..732
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            733..885
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1057
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1127
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1269
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1471
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..2467
                     /gene="BBS4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2446..2451
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBS4"
                     /note="hexamer: AATAAA"
     polyA_site      2467
                     /gene="BBS4"
                     /note="major polyA site"
ORIGIN      
        1 gcagcggtgg gctgagctaa aatggctgag gagagagtcg cgacgagaac tcaatttcct
       61 gtatctactg agtctcaaaa accccggcag aaaaaagctc cagagtttcc tattttggag
      121 aagcagaact ggttgattca tcttcattat atccggaaag attatgaagc ctgcaaggct
      181 gttatcaaag aacagcttca agagactcag ggattgtgtg aatatgctat ctatgtccaa
      241 gcattgatat ttcgcctaga aggaaatatc caagaatccc tagaactctt ccagacatgt
      301 gcagttctta gtcctcagag tgctgataac ctcaagcagg tggccagatc tttatttctt
      361 ttgggaaaac ataaagctgc cattgaagta tataatgaag cagctaaact caaccagaaa
      421 gattgggaga tcagccataa cctaggagtt tgctacatat acctgaagca gttcaacaag
      481 gcacaagacc agttgcacaa tgccctgaat cttaataggc acgatctgac ttatataatg
      541 ctggggaaga tccacttgct ggagggagac ttggacaagg ccattgaagt ctacaagaaa
      601 gcagtggagt tctcaccaga aaatacagag cttcttacaa ctttaggatt actctactta
      661 cagctcggca tttaccagaa ggcatttgaa catcttggca atgcactgac ttatgaccct
      721 accaactaca aggccatctt ggcagcaggc agcatgatgc agacccacgg ggactttgat
      781 gttgccctca ccaaatacag agttgtggct tgtgctgttc cagaaagtcc tccactctgg
      841 aataacattg gaatgtgttt ctttggcaag aagaaatatg tggcggccat cagctgcctg
      901 aaacgagcca actacttggc accctttgat tggaagattc tgtataattt gggccttgtc
      961 catttgacca tgcagcagta tgcatcagct tttcattttc tcagtgcggc catcaacttc
     1021 cagccaaaga tgggggagct ctacatgctc ttggcagtgg ctctgaccaa tctggaagat
     1081 atagaaaatg ccaagagagc ctacgcagaa gcagtccacc tggataagtg taacccttta
     1141 gtaaacctga actatgctgt gctgctgtac aaccagggcg agaagaagaa cgccctggcc
     1201 caatatcagg agatggagaa gaaagtcagc ctactcaagg acaatagctc tctggaattt
     1261 gactctgaga tggtggagat ggctcagaag ttgggagctg ctctccaggt tggggaggca
     1321 ctggtctgga ccaaaccagt taaagatccc aaatcaaagc accagaccac ttcaaccagc
     1381 aaacctgcca gtttccagca gcctctgggc tctaatcaag ctctaggaca ggcaatgtct
     1441 tcagcagctg catacaggac gctcccctca ggtgctggag gaacatccca gttcacaaag
     1501 cccccatctc ttcctctgga gccagagcct gcggtggaat caagtccaac tgaaacatca
     1561 gaacaaataa gagagaaata agaatagaat gaatgacccc aaaatagggt tttcttgggc
     1621 gaggatgtgc tggattagga aaggtgacat gacacaggca gagcagagtg gcacccacca
     1681 cagaatacag tgtgtgttat tacgaggagc cagcagttga gcctaaggtc cttctaccta
     1741 cctggtattg gcatttgagg tcggaaaccc tctactgccc cataagccag gaaaagtgaa
     1801 aagagaacac agttccttta agaactggca gcaaggcttg aggccttatg tatgtagctg
     1861 agtcagcaag gtacatgatg ctgtctgctt tcaaaaggac ttttctctcc tagctgactg
     1921 actccttcct tagttcaagg aacagctgag acagacctct gctgagtagc tctgtgatga
     1981 caaagccttg gtttaactga ggtgatcctc aggttgtgag gtttattagt ccccaaggca
     2041 aacacaaata ttagattaat aatccaactt taatagtata catttaaaag aaaaaaaaca
     2101 aaagccctgg aagttgaggc caagcctgct gagtattgca gctgcatttg cccaaaggga
     2161 atccagaaca agtccctccc tgtattttgt tcttgagagg ggtcagtcta gaagctagat
     2221 cctatcagga tgaggagcag cagcccaggg cttgtctgga tcagcaccaa cgattttaaa
     2281 gaaaaaagga agagtttctt agatgagtaa ttgttattga agatagtcag tgataaccac
     2341 tgaccagatg ctatcaatac actatgtgtc ctttttagaa taaagattac atatcatcat
     2401 tcctttgggg aaaattgtta ttcaggtata aaaacaagag atcataataa aaacctaaaa
     2461 gaaccta
//
