LOCUS       NM_175325               2456 bp    mRNA    linear   ROD 20-OCT-2024
DEFINITION  Mus musculus Bardet-Biedl syndrome 4 (Bbs4), transcript variant 1,
            mRNA.
ACCESSION   NM_175325
VERSION     NM_175325.4
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  (bases 1 to 2456)
  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   2  (bases 1 to 2456)
  AUTHORS   Xie,C., Habif,J.C., Ukhanov,K., Uytingco,C.R., Zhang,L.,
            Campbell,R.J. and Martens,J.R.
  TITLE     Reversal of ciliary mechanisms of disassembly rescues olfactory
            dysfunction in ciliopathies
  JOURNAL   JCI Insight 7 (15), e158736 (2022)
   PUBMED   35771640
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2456)
  AUTHORS   Gohlke,S., Mancini,C., Garcia-Carrizo,F. and Schulz,T.J.
  TITLE     Loss of the ciliary gene Bbs4 results in defective thermogenesis
            due to metabolic inefficiency and impaired lipid metabolism
  JOURNAL   FASEB J 35 (11), e21966 (2021)
   PUBMED   34624148
  REMARK    GeneRIF: Loss of the ciliary gene Bbs4 results in defective
            thermogenesis due to metabolic inefficiency and impaired lipid
            metabolism.
REFERENCE   4  (bases 1 to 2456)
  AUTHORS   Tsyklauri,O., Niederlova,V., Forsythe,E., Prasai,A., Drobek,A.,
            Kasparek,P., Sparks,K., Trachtulec,Z., Prochazka,J., Sedlacek,R.,
            Beales,P., Huranova,M. and Stepanek,O.
  TITLE     Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis
            and dysregulated self-tolerance
  JOURNAL   EMBO Rep 22 (2), e50785 (2021)
   PUBMED   33426789
REFERENCE   5  (bases 1 to 2456)
  AUTHORS   Xiong,Y., Scerbo,M.J., Seelig,A., Volta,F., O'Brien,N., Dicker,A.,
            Padula,D., Lickert,H., Gerdes,J.M. and Berggren,P.O.
  TITLE     Islet vascularization is regulated by primary endothelial cilia via
            VEGF-A-dependent signaling
  JOURNAL   Elife 9, e56914 (2020)
   PUBMED   33200981
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2456)
  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.
REFERENCE   7  (bases 1 to 2456)
  AUTHORS   Mykytyn,K., Mullins,R.F., Andrews,M., Chiang,A.P., Swiderski,R.E.,
            Yang,B., Braun,T., Casavant,T., Stone,E.M. and Sheffield,V.C.
  TITLE     Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in
            flagella formation but not global cilia assembly
  JOURNAL   Proc Natl Acad Sci U S A 101 (23), 8664-8669 (2004)
   PUBMED   15173597
  REMARK    GeneRIF: Bbs4-null mice develop both motile and primary cilia,
            demonstrating that Bbs4 is not required for global cilia formation.
REFERENCE   8  (bases 1 to 2456)
  AUTHORS   Kim,J.C., Badano,J.L., Sibold,S., Esmail,M.A., Hill,J.,
            Hoskins,B.E., Leitch,C.C., Venner,K., Ansley,S.J., Ross,A.J.,
            Leroux,M.R., Katsanis,N. and Beales,P.L.
  TITLE     The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar
            region and is required for microtubule anchoring and cell cycle
            progression
  JOURNAL   Nat Genet 36 (5), 462-470 (2004)
   PUBMED   15107855
REFERENCE   9  (bases 1 to 2456)
  AUTHORS   Mykytyn,K., Nishimura,D.Y., Searby,C.C., Beck,G., Bugge,K.,
            Haines,H.L., Cornier,A.S., Cox,G.F., Fulton,A.B., Carmi,R.,
            Iannaccone,A., Jacobson,S.G., Weleber,R.G., Wright,A.F., Riise,R.,
            Hennekam,R.C., Luleci,G., Berker-Karauzum,S., Biesecker,L.G.,
            Stone,E.M. and Sheffield,V.C.
  TITLE     Evaluation of complex inheritance involving the most common
            Bardet-Biedl syndrome locus (BBS1)
  JOURNAL   Am J Hum Genet 72 (2), 429-437 (2003)
   PUBMED   12524598
REFERENCE   10 (bases 1 to 2456)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC134894.4 and CT025587.11.
            
            On Sep 2, 2022 this sequence version replaced NM_175325.3.
            
            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 :: BC055797.1, AK089970.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164131, SAMN01164139
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AC134894.4         83172-83208         c
            38-89               CT025587.11        2985-3036
            90-169              CT025587.11        4697-4776
            170-233             CT025587.11        6285-6348
            234-345             CT025587.11        7638-7749
            346-418             CT025587.11        8953-9025
            419-472             CT025587.11        12419-12472
            473-600             CT025587.11        15229-15356
            601-655             CT025587.11        18364-18418
            656-724             CT025587.11        20188-20256
            725-877             CT025587.11        21228-21380
            878-1049            CT025587.11        21478-21649
            1050-1119           CT025587.11        23977-24046
            1120-1261           CT025587.11        24658-24799
            1262-1463           CT025587.11        25247-25448
            1464-2456           CT025587.11        25854-26846
FEATURES             Location/Qualifiers
     source          1..2456
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 32.01 cM"
     gene            1..2456
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /note="Bardet-Biedl syndrome 4"
                     /db_xref="GeneID:102774"
                     /db_xref="MGI:MGI:2143311"
     exon            1..37
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..1576
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /note="isoform 1 is encoded by transcript variant 1;
                     bardet-Biedl syndrome 4 protein homolog; Bardet-Biedl
                     syndrome 4 homolog; BBSome complex member BBS4"
                     /codon_start=1
                     /product="BBSome complex member BBS4 isoform 1"
                     /protein_id="NP_780534.1"
                     /db_xref="CCDS:CCDS40658.1"
                     /db_xref="GeneID:102774"
                     /db_xref="MGI:MGI:2143311"
                     /translation="MAEVKLGMKTQVPASVESQKPRSKKAPDFPIVEKQNWLIHLHYI
                     RKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQCAD
                     NLKQVARSLFLLGKHKAATEVYNEAAKLNQKDWEICHNLGVCYTYLKQFNKAQDQLHS
                     ALQLNKHDLTYIMLGKIHLLQGDLDKAIEIYKKAVEFSPENTELLTTLGLLYLQLGVY
                     QKAFEHLGNALTYDPANYKAILAAGSMMQTHGDFDVALTKYRVVACAIPESPPLWNNI
                     GMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQ
                     PKMGELYMLLAVALTNLEDIENARRAYVEAVRLDKCNPLVNLNYAVLLYNQGEKKSAL
                     AQYQEMEKKVNFLKDNSPLEFDSEMVEMAQKLGAALQVGEALVWTKPVKDPKTKHRTN
                     SGSKSATLQQPLGSIQALGQAMSSAAAYRKILSGAVGAQLPKPPSLPLEPEPEPTVEA
                     SPTEASEQKKEK"
     exon            38..89
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            90..169
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            170..233
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            234..345
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            346..418
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            419..472
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            473..600
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            601..655
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            656..724
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            725..877
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            878..1049
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1119
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1261
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            1262..1463
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..2456
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2450..2455
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /note="hexamer: AATAAA"
     polyA_site      2456
                     /gene="Bbs4"
                     /gene_synonym="D9Ertd464e"
                     /note="major polyA site"
ORIGIN      
        1 gggcggagcc aagatggctg aagtgaagct tgggatgaaa actcaggttc ctgcatctgt
       61 tgaatctcaa aaacctaggt caaaaaaagc tccagacttc cctattgtgg agaaacagaa
      121 ctggctgatc catctccact atatccggaa ggattatgaa gcttgcaagg ctgtgatcaa
      181 agaacagctt caggagactc aggggctatg tgaatatgct atctatgtcc aagcactgat
      241 ttttcgcctg gaaggaaata tccaagaatc cctagaactc tttcagacat gtgctgttct
      301 cagcccacag tgtgctgata atctcaagca ggtggccaga tctttgtttc ttctgggaaa
      361 acacaaagct gccactgaag tatataatga agcagctaaa cttaaccaga aagactggga
      421 gatctgccat aacctgggag tgtgctacac ttacctgaag cagttcaaca aggcacaaga
      481 ccaactgcac agtgccctcc agcttaacaa gcatgacctg acttacataa tgttggggaa
      541 gatccattta ctgcagggag acctggataa agccatcgag atctacaaga aagcagtaga
      601 gttctcacca gaaaatactg aacttcttac aactttagga ttgctctact tgcagcttgg
      661 tgtgtaccag aaggcatttg aacatcttgg gaatgcactg acctacgacc ctgccaacta
      721 caaggccatc ttggcagcag gcagcatgat gcagactcat ggggactttg atgtcgccct
      781 taccaaatac agagttgtag cctgtgctat tccagaaagt cctccacttt ggaataacat
      841 tggaatgtgt ttctttggca agaagaaata tgtggcagct atcagctgcc taaaacgagc
      901 caactacttg gcacccttcg actggaagat tctgtacaac ctgggccttg tccatttgac
      961 tatgcagcag tatgcatcag cattccattt tctcagtgca gccatcaact tccagccaaa
     1021 gatgggggaa ctctacatgc tcttggctgt ggctctgacc aacctggaag atatagagaa
     1081 tgccagaaga gcttatgtag aagctgttcg cctggataag tgtaaccctt tagtaaacct
     1141 gaactatgct gtgctgctgt ataaccaggg tgagaagaag agcgccctgg ctcagtacca
     1201 ggagatggag aagaaggtca actttctcaa ggacaacagc cctctggaat ttgactctga
     1261 gatggtagag atggctcaga agttgggagc tgcccttcag gtgggagagg cactggtctg
     1321 gaccaaacca gtcaaagatc ccaagacaaa gcaccggacc aattcaggca gcaaatctgc
     1381 tactctccag cagcctctgg gttccattca agctctagga caggcgatgt cttcagcagc
     1441 tgcatacaga aagatccttt caggtgctgt aggagcccag ctcccaaagc caccatcact
     1501 gccactggag ccagagccag agcccactgt ggaagcaagt ccaacagaag catcagaaca
     1561 aaagaaagaa aaatagcaac aaacaggaaa aaccgaggat gaccctggag tagggggtct
     1621 cttaagtgag accatataga aggtggtcat atgaccaggc agatggaggc taacacttcg
     1681 tccctgggtg ggcactgcag aattaaaaca gaacccaggg tgtgttgtga tgatcagaag
     1741 gagcctaagg cctatgcagc tcttggctgg ccccatcatc caggaacaag ggcgaaggca
     1801 tgctacatag acgtgaggcc tcgcatgtat actccaagag ttagcaaggc aaacgatgaa
     1861 agcccgttac tcagtgaagg acttttatct tgataaaggg aagaggacct ctactcagta
     1921 ggctgtggta atgaagcctc attttaactg actgtgggaa gatagaagtc tccactggaa
     1981 acacaaacct tgtattaaga acctagttaa agagggcttc cctaactacc actaccacca
     2041 ctccttttag attaagttga gacctagatg gaatgaatcc agctatattt gcccaaagag
     2101 actctaaaac aagtccttat ctccattctt aagagaggtc agagtttaga gccagatcat
     2161 gtcagtttaa gtagtagagt caagggctgg tctggaatcg gcaccaagaa cttaaagggg
     2221 aaaagtgggt aggtgactga ggacatagct cagtattaga gcacttgctt agcatacaca
     2281 ggccctgggt ttaatcccca gtactgctga aaaagaacag cttttttaga taaggaattt
     2341 tagccaagac aatcaatgat gaatgctgac aaacgctctc acaacccatt agcagccttt
     2401 gtaaaagatt atggatatcc aagaggtcat attaaaagat ttttaaaaaa ataaaa
//
