LOCUS       NM_130452               2671 bp    mRNA    linear   ROD 07-FEB-2025
DEFINITION  Mus musculus gamma-butyrobetaine hydroxylase 1 (Bbox1), transcript
            variant 1, mRNA.
ACCESSION   NM_130452
VERSION     NM_130452.2
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 2671)
  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 2671)
  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 2671)
  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 2671)
  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 2671)
  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 2671)
  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 2671)
  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 2671)
  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 2671)
  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 2671)
  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 NM_130452.1.
            
            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 :: BC019406.1, AY033514.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849386, SAMN01164135
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-330               AL691416.9         40838-41167         c
            331-445             AL691416.9         39166-39280         c
            446-644             AL691416.9         27834-28032         c
            645-750             AL691416.9         10983-11088         c
            751-947             AL691416.9         5439-5635           c
            948-1114            AL691416.9         3652-3818           c
            1115-2671           AL845518.6         116114-117670       c
FEATURES             Location/Qualifiers
     source          1..2671
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 56.7 cM"
     gene            1..2671
                     /gene="Bbox1"
                     /note="gamma-butyrobetaine hydroxylase 1"
                     /db_xref="GeneID:170442"
                     /db_xref="MGI:MGI:1891372"
     exon            1..330
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     CDS             112..1275
                     /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_569719.1"
                     /db_xref="CCDS:CCDS16510.1"
                     /db_xref="GeneID:170442"
                     /db_xref="MGI:MGI:1891372"
                     /translation="MHCAILKAEAVDGAHLMQIFWHDGAESLYPAVWLRDNCQCSDCY
                     LHSAKARKLLLEALDVNIRIDDLTFDRKKVYITWPNDHYSEFEANWLKKRCFSQQARA
                     RLQGELFLPECQYWGSELQLPTLNFEDVLNDDDHAYKWLSSLKKVGIVRLTGAADKRG
                     EIIKLGKRIGFLYLTFYGHTWQVQDKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLH
                     CIKQTVTGGDSEIVDGFNVCQKLKEKNPQAFHILSSTFVDFTDIGVDYCDFSVQSKHK
                     IIELDDKGQVVRVNFNNATRDTVFDVPIERVQPFYAALKEFVDLMNSKEYKYTFKMNP
                     GDVITFDNWRLLHGRRSYEAGTEISRHLEGAYADWDVVMSRLRILRQRVTNGN"
     exon            331..445
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     exon            446..644
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     exon            645..750
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     exon            751..947
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1114
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..2671
                     /gene="Bbox1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1577..1582
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bbox1"
                     /note="hexamer: AATAAA"
     polyA_site      1598
                     /gene="Bbox1"
                     /note="major polyA site"
     regulatory      1616..1621
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bbox1"
                     /note="hexamer: AATAAA"
     polyA_site      1636
                     /gene="Bbox1"
                     /note="major polyA site"
     regulatory      2649..2654
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bbox1"
                     /note="hexamer: AATAAA"
     polyA_site      2671
                     /gene="Bbox1"
                     /note="major polyA site"
ORIGIN      
        1 acttgcagta ttgtagagat caggttcagg tacaatctgc cagcctacta taattaacac
       61 tgatttgtcc tagcaggtgg ctgataggat ttatcaccaa agaccagaaa catgcactgt
      121 gccatcctaa aggcagaagc agtggatggg gctcatttga tgcagatctt ttggcacgat
      181 ggggcagagt ccctctaccc agcagtatgg ctgagagaca actgtcagtg ttcagactgc
      241 tacctacatt ctgcaaaagc tcggaaactt ctcctggaag ctcttgatgt aaacattaga
      301 atcgatgatt tgacatttga ccggaaaaag gtttatatca catggcccaa tgaccattac
      361 agtgaattcg aagctaactg gctgaagaaa agatgctttt ctcaacaggc cagagcaagg
      421 ctccaaggag aattgttttt accagaatgt cagtactggg gctcagaact ccagctgcca
      481 actctgaatt ttgaagatgt gttaaatgat gatgaccatg catacaaatg gctttccagt
      541 ctcaagaaag taggcattgt gagactcacc ggagcagctg acaaacgtgg tgagatcata
      601 aaacttggga aaagaattgg cttcctgtac ctcacatttt atggacacac ttggcaagtg
      661 caggacaaga ttgatgccaa caatgtggct tatacaactg ggaagctcag cttccacact
      721 gactacccag ccctccacca tccacctggg gttcagcttc tgcattgtat caagcaaaca
      781 gtcacaggag gtgactctga aattgtggat gggtttaacg tgtgccaaaa gctcaaggag
      841 aagaaccctc aggctttcca tattctctcc tcgacctttg tggattttac agacattgga
      901 gtggattact gtgatttctc tgtgcaatct aaacacaaga ttatagagtt ggatgataaa
      961 ggccaagtgg ttcgcgtcaa cttcaacaat gcaaccagag atacagtctt tgatgtcccc
     1021 atcgaaagag ttcagccttt ctacgctgct ctgaaagagt ttgttgacct catgaacagc
     1081 aaagaataca agtatacctt caagatgaat ccaggtgatg tgattacctt cgacaactgg
     1141 cgcttgcttc atggacgtcg tagctatgag gcgggaactg agatatcccg ccatctggaa
     1201 ggagcgtatg ctgactggga tgtagtgatg tcaaggcttc gtattctgag acagagagtc
     1261 acgaatggga actgaatctc ctggccttag actttagtgc aagtccagtg actgaatgct
     1321 cctatctata acctggttat tctcatatca tgatcaacat cattcacata ataatttctt
     1381 taaaactgaa catgcagctt ctctcatcag ggtattcttc cctgcaatca tattcaatat
     1441 ctcttattta gtgtcatggt aagggttagt ctcaaagcat cccttctgtg ggataagctc
     1501 tctgactttg cattagcaag tattaccaaa ccaccccccc tacaaatagt tttatatcta
     1561 acaaatcttt ctggcaaata aaactgtttt ataaatgatt aaagcttgtg tttcaaataa
     1621 aagatcttaa aatatgttcc tgctcagttg cctacgtgat ctcatttttc atgattgcat
     1681 gtctttagca tgcttggaaa agtgttcata ttttcgaagc tctgttttat tttttatata
     1741 ttgcagaatt ttgttgccca tgcttagaga actcatttac ttgataatcc caacattgtt
     1801 tgtcatcctt aagtcatgac agtaaaccca agtaagccaa atgaagagaa aaatctagtc
     1861 cctctaaatt tgtcttgact agagaaatgt tcccacagac tgccagtgtt gccctcacct
     1921 aaggacacaa cactcctctt cattccttgt cttcaactca tgaattttta aaagatactg
     1981 ccaacctacc tgaatggaca agatggctgc ttgcctctgg acagccttac cagctggtct
     2041 catctttttg catggccact cccctagtga tagaactcaa atgtcagagc acagaatgaa
     2101 gttgtaatct gttgagcctc ccatacggat gagaaaagaa gctttggaat tccaatttga
     2161 tgagattctg atagtaccaa catatttcat tttgttgaca tttgaatctg tgtaaacttt
     2221 atgtttctag aaatctctaa gtaactttac ttattatgca aagaagggga attcattgtg
     2281 gcaacatcat cttaatacac agttatccgt atttgctttc ctctatgtcc catctggaca
     2341 ttcaaggttc ttagcactgc actaaataag aatggaaaga gtgatcactg ttacctcatt
     2401 tctgatttta aagggaaaat ctgtctttct ccattaagta tgatgtcagt tatagatttg
     2461 tcatatctgg cctttaatat ggaggggtat ttttcttttc ctcctagttc ttccaacctt
     2521 ttatcatgag ggaattcatg ggctttttct aactctatta agatgactgt gatttctgcc
     2581 ataacttacg tgtgtgatgc attaatattt atcaacttgt atatgttgaa agcatcctgg
     2641 catccccaaa taaaaccaac tttatcctgt g
//
