LOCUS       NM_001413162            2967 bp    mRNA    linear   ROD 08-FEB-2025
DEFINITION  Mus musculus gamma-butyrobetaine hydroxylase 1 (Bbox1), transcript
            variant 2, mRNA.
ACCESSION   NM_001413162 XM_006498822
VERSION     NM_001413162.1
KEYWORDS    RefSeq.
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 2967)
  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 2967)
  AUTHORS   Jiang,D., Burger,C.A., Casasent,A.K., Albrecht,N.E., Li,F. and
            Samuel,M.A.
  TITLE     Spatiotemporal gene expression patterns reveal molecular
            relatedness between retinal laminae
  JOURNAL   J Comp Neurol 528 (5), 729-755 (2020)
   PUBMED   31609468
REFERENCE   3  (bases 1 to 2967)
  AUTHORS   Albrecht,N.E., Alevy,J., Jiang,D., Burger,C.A., Liu,B.I., Li,F.,
            Wang,J., Kim,S.Y., Hsu,C.W., Kalaga,S., Udensi,U., Asomugha,C.,
            Bohat,R., Gaspero,A., Justice,M.J., Westenskow,P.D., Yamamoto,S.,
            Seavitt,J.R., Beaudet,A.L., Dickinson,M.E. and Samuel,M.A.
  TITLE     Rapid and Integrative Discovery of Retina Regulatory Molecules
  JOURNAL   Cell Rep 24 (9), 2506-2519 (2018)
   PUBMED   30157441
REFERENCE   4  (bases 1 to 2967)
  AUTHORS   Lee,H., Kim,H.K., Kwon,J.T., Park,S., Park,H.J., Kim,S.K.,
            Park,J.K., Kang,W.S., Kim,Y.J., Chung,J.H., Kim,J.W. and Kim,H.J.
  TITLE     BBOX1 is down-regulated in maternal immune-activated mice and
            implicated in genetic susceptibility to human schizophrenia
  JOURNAL   Psychiatry Res 259, 197-202 (2018)
   PUBMED   29065368
  REMARK    GeneRIF: BBOX 1 expression was increased in the medial frontal
            cortex of a mouse model of schizophrenia induced by maternal immune
            activation.
REFERENCE   5  (bases 1 to 2967)
  AUTHORS   Dickinson,M.E., Flenniken,A.M., Ji,X., Teboul,L., Wong,M.D.,
            White,J.K., Meehan,T.F., Weninger,W.J., Westerberg,H., Adissu,H.,
            Baker,C.N., Bower,L., Brown,J.M., Caddle,L.B., Chiani,F., Clary,D.,
            Cleak,J., Daly,M.J., Denegre,J.M., Doe,B., Dolan,M.E., Edie,S.M.,
            Fuchs,H., Gailus-Durner,V., Galli,A., Gambadoro,A., Gallegos,J.,
            Guo,S., Horner,N.R., Hsu,C.W., Johnson,S.J., Kalaga,S., Keith,L.C.,
            Lanoue,L., Lawson,T.N., Lek,M., Mark,M., Marschall,S., Mason,J.,
            McElwee,M.L., Newbigging,S., Nutter,L.M., Peterson,K.A.,
            Ramirez-Solis,R., Rowland,D.J., Ryder,E., Samocha,K.E.,
            Seavitt,J.R., Selloum,M., Szoke-Kovacs,Z., Tamura,M., Trainor,A.G.,
            Tudose,I., Wakana,S., Warren,J., Wendling,O., West,D.B., Wong,L.,
            Yoshiki,A., MacArthur,D.G., Tocchini-Valentini,G.P., Gao,X.,
            Flicek,P., Bradley,A., Skarnes,W.C., Justice,M.J., Parkinson,H.E.,
            Moore,M., Wells,S., Braun,R.E., Svenson,K.L., de Angelis,M.H.,
            Herault,Y., Mohun,T., Mallon,A.M., Henkelman,R.M., Brown,S.D.,
            Adams,D.J., Lloyd,K.C., McKerlie,C., Beaudet,A.L., Bucan,M. and
            Murray,S.A.
  CONSRTM   International Mouse Phenotyping Consortium; Jackson Laboratory;
            Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris
            (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for
            Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource
            Center
  TITLE     High-throughput discovery of novel developmental phenotypes
  JOURNAL   Nature 537 (7621), 508-514 (2016)
   PUBMED   27626380
  REMARK    Erratum:[Nature. 2017 Nov 16;551(7680):398. doi:
            10.1038/nature24643.. PMID: 29144450]
REFERENCE   6  (bases 1 to 2967)
  AUTHORS   Wen,G., Kuhne,H., Rauer,C., Ringseis,R. and Eder,K.
  TITLE     Mouse gamma-butyrobetaine dioxygenase is regulated by peroxisome
            proliferator-activated receptor alpha through a PPRE located in the
            proximal promoter
  JOURNAL   Biochem Pharmacol 82 (2), 175-183 (2011)
   PUBMED   21549104
  REMARK    GeneRIF: study clearly shows that mouse gamma-butyrobetaine
            dioxygenase is a direct PPARalpha target gene
REFERENCE   7  (bases 1 to 2967)
  AUTHORS   Favor,J., Bradley,A., Conte,N., Janik,D., Pretsch,W., Reitmeir,P.,
            Rosemann,M., Schmahl,W., Wienberg,J. and Zaus,I.
  TITLE     Analysis of Pax6 contiguous gene deletions in the mouse, Mus
            musculus, identifies regions distinct from Pax6 responsible for
            extreme small-eye and belly-spotting phenotypes
  JOURNAL   Genetics 182 (4), 1077-1088 (2009)
   PUBMED   19474196
REFERENCE   8  (bases 1 to 2967)
  AUTHORS   Makowski,L., Noland,R.C., Koves,T.R., Xing,W., Ilkayeva,O.R.,
            Muehlbauer,M.J., Stevens,R.D. and Muoio,D.M.
  TITLE     Metabolic profiling of PPARalpha-/- mice reveals defects in
            carnitine and amino acid homeostasis that are partially reversed by
            oral carnitine supplementation
  JOURNAL   FASEB J 23 (2), 586-604 (2009)
   PUBMED   18945875
REFERENCE   9  (bases 1 to 2967)
  AUTHORS   van Vlies,N., Ferdinandusse,S., Turkenburg,M., Wanders,R.J. and
            Vaz,F.M.
  TITLE     PPAR alpha-activation results in enhanced carnitine biosynthesis
            and OCTN2-mediated hepatic carnitine accumulation
  JOURNAL   Biochim Biophys Acta 1767 (9), 1134-1142 (2007)
   PUBMED   17692817
REFERENCE   10 (bases 1 to 2967)
  AUTHORS   van Vlies,N., Tian,L., Overmars,H., Bootsma,A.H., Kulik,W.,
            Wanders,R.J., Wood,P.A. and Vaz,F.M.
  TITLE     Characterization of carnitine and fatty acid metabolism in the
            long-chain acyl-CoA dehydrogenase-deficient mouse
  JOURNAL   Biochem J 387 (Pt 1), 185-193 (2005)
   PUBMED   15535801
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL691416.9 and AL845518.6.
            
            On Oct 27, 2022 this sequence version replaced XM_006498822.4.
            
            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 :: SRR7652917.288188.1,
                                           SRR7974084.31557.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849386, SAMN01164135
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-372               AL691416.9         49612-49983         c
            373-626             AL691416.9         40838-41091         c
            627-741             AL691416.9         39166-39280         c
            742-940             AL691416.9         27834-28032         c
            941-1046            AL691416.9         10983-11088         c
            1047-1243           AL691416.9         5439-5635           c
            1244-1410           AL691416.9         3652-3818           c
            1411-2967           AL845518.6         116114-117670       c
FEATURES             Location/Qualifiers
     source          1..2967
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 56.7 cM"
     gene            1..2967
                     /gene="Bbox1"
                     /note="gamma-butyrobetaine hydroxylase 1"
                     /db_xref="GeneID:170442"
                     /db_xref="MGI:MGI:1891372"
     exon            1..372
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     exon            373..626
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     CDS             408..1571
                     /gene="Bbox1"
                     /EC_number="1.14.11.1"
                     /note="gamma-butyrobetaine,2-oxoglutarate dioxygenase;
                     gamma-butyrobetaine hydroxylase; gamma-BBH; butyrobetaine
                     (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine
                     hydroxylase)"
                     /codon_start=1
                     /product="gamma-butyrobetaine dioxygenase"
                     /protein_id="NP_001400091.1"
                     /db_xref="GeneID:170442"
                     /db_xref="MGI:MGI:1891372"
                     /translation="MHCAILKAEAVDGAHLMQIFWHDGAESLYPAVWLRDNCQCSDCY
                     LHSAKARKLLLEALDVNIRIDDLTFDRKKVYITWPNDHYSEFEANWLKKRCFSQQARA
                     RLQGELFLPECQYWGSELQLPTLNFEDVLNDDDHAYKWLSSLKKVGIVRLTGAADKRG
                     EIIKLGKRIGFLYLTFYGHTWQVQDKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLH
                     CIKQTVTGGDSEIVDGFNVCQKLKEKNPQAFHILSSTFVDFTDIGVDYCDFSVQSKHK
                     IIELDDKGQVVRVNFNNATRDTVFDVPIERVQPFYAALKEFVDLMNSKEYKYTFKMNP
                     GDVITFDNWRLLHGRRSYEAGTEISRHLEGAYADWDVVMSRLRILRQRVTNGN"
     exon            627..741
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     exon            742..940
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     exon            941..1046
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1243
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     exon            1244..1410
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..2967
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1873..1878
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bbox1"
                     /note="hexamer: AATAAA"
     polyA_site      1894
                     /gene="Bbox1"
                     /note="major polyA site"
     regulatory      1912..1917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bbox1"
                     /note="hexamer: AATAAA"
     polyA_site      1932
                     /gene="Bbox1"
                     /note="major polyA site"
     regulatory      2945..2950
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bbox1"
                     /note="hexamer: AATAAA"
     polyA_site      2967
                     /gene="Bbox1"
                     /note="major polyA site"
ORIGIN      
        1 aaatcactgg gcaaccatct tcagcagagc cagaggctct ctagcagcta ctgtttattc
       61 caaacaaaac tggagaaagg ggagactatc tagcaaaggg aagccaatcc cagccttcag
      121 agaagacccc ctacaactaa tcaaaagctc tttaaagaca tttctgttgg aatattcaat
      181 ggccaagtag acgccactgc gcctgtgctc aggtgagagc cgacagctcc tccctgcaga
      241 atgcataggc ttcttcttca agagagtttt gcaatagaag cgctgtcagt gtgaacaggt
      301 ggaagagagg taaaagctct tgtctgcttg ttcctgttgc agcagctgcc tctggcacag
      361 aagacacgac aggtggctga taggatttat caccaaagac cagaaacatg cactgtgcca
      421 tcctaaaggc agaagcagtg gatggggctc atttgatgca gatcttttgg cacgatgggg
      481 cagagtccct ctacccagca gtatggctga gagacaactg tcagtgttca gactgctacc
      541 tacattctgc aaaagctcgg aaacttctcc tggaagctct tgatgtaaac attagaatcg
      601 atgatttgac atttgaccgg aaaaaggttt atatcacatg gcccaatgac cattacagtg
      661 aattcgaagc taactggctg aagaaaagat gcttttctca acaggccaga gcaaggctcc
      721 aaggagaatt gtttttacca gaatgtcagt actggggctc agaactccag ctgccaactc
      781 tgaattttga agatgtgtta aatgatgatg accatgcata caaatggctt tccagtctca
      841 agaaagtagg cattgtgaga ctcaccggag cagctgacaa acgtggtgag atcataaaac
      901 ttgggaaaag aattggcttc ctgtacctca cattttatgg acacacttgg caagtgcagg
      961 acaagattga tgccaacaat gtggcttata caactgggaa gctcagcttc cacactgact
     1021 acccagccct ccaccatcca cctggggttc agcttctgca ttgtatcaag caaacagtca
     1081 caggaggtga ctctgaaatt gtggatgggt ttaacgtgtg ccaaaagctc aaggagaaga
     1141 accctcaggc tttccatatt ctctcctcga cctttgtgga ttttacagac attggagtgg
     1201 attactgtga tttctctgtg caatctaaac acaagattat agagttggat gataaaggcc
     1261 aagtggttcg cgtcaacttc aacaatgcaa ccagagatac agtctttgat gtccccatcg
     1321 aaagagttca gcctttctac gctgctctga aagagtttgt tgacctcatg aacagcaaag
     1381 aatacaagta taccttcaag atgaatccag gtgatgtgat taccttcgac aactggcgct
     1441 tgcttcatgg acgtcgtagc tatgaggcgg gaactgagat atcccgccat ctggaaggag
     1501 cgtatgctga ctgggatgta gtgatgtcaa ggcttcgtat tctgagacag agagtcacga
     1561 atgggaactg aatctcctgg ccttagactt tagtgcaagt ccagtgactg aatgctccta
     1621 tctataacct ggttattctc atatcatgat caacatcatt cacataataa tttctttaaa
     1681 actgaacatg cagcttctct catcagggta ttcttccctg caatcatatt caatatctct
     1741 tatttagtgt catggtaagg gttagtctca aagcatccct tctgtgggat aagctctctg
     1801 actttgcatt agcaagtatt accaaaccac cccccctaca aatagtttta tatctaacaa
     1861 atctttctgg caaataaaac tgttttataa atgattaaag cttgtgtttc aaataaaaga
     1921 tcttaaaata tgttcctgct cagttgccta cgtgatctca tttttcatga ttgcatgtct
     1981 ttagcatgct tggaaaagtg ttcatatttt cgaagctctg ttttattttt tatatattgc
     2041 agaattttgt tgcccatgct tagagaactc atttacttga taatcccaac attgtttgtc
     2101 atccttaagt catgacagta aacccaagta agccaaatga agagaaaaat ctagtccctc
     2161 taaatttgtc ttgactagag aaatgttccc acagactgcc agtgttgccc tcacctaagg
     2221 acacaacact cctcttcatt ccttgtcttc aactcatgaa tttttaaaag atactgccaa
     2281 cctacctgaa tggacaagat ggctgcttgc ctctggacag ccttaccagc tggtctcatc
     2341 tttttgcatg gccactcccc tagtgataga actcaaatgt cagagcacag aatgaagttg
     2401 taatctgttg agcctcccat acggatgaga aaagaagctt tggaattcca atttgatgag
     2461 attctgatag taccaacata tttcattttg ttgacatttg aatctgtgta aactttatgt
     2521 ttctagaaat ctctaagtaa ctttacttat tatgcaaaga aggggaattc attgtggcaa
     2581 catcatctta atacacagtt atccgtattt gctttcctct atgtcccatc tggacattca
     2641 aggttcttag cactgcacta aataagaatg gaaagagtga tcactgttac ctcatttctg
     2701 attttaaagg gaaaatctgt ctttctccat taagtatgat gtcagttata gatttgtcat
     2761 atctggcctt taatatggag gggtattttt cttttcctcc tagttcttcc aaccttttat
     2821 catgagggaa ttcatgggct ttttctaact ctattaagat gactgtgatt tctgccataa
     2881 cttacgtgtg tgatgcatta atatttatca acttgtatat gttgaaagca tcctggcatc
     2941 cccaaataaa accaacttta tcctgtg
//
