LOCUS       NM_003986               2035 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens gamma-butyrobetaine hydroxylase 1 (BBOX1), transcript
            variant 1, mRNA.
ACCESSION   NM_003986
VERSION     NM_003986.3
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 2035)
  AUTHORS   Zhao,C., Shi,W. and Chen,M.
  TITLE     Long non-coding RNA BBOX1-antisense RNA 1 enhances cell
            proliferation and migration and suppresses apoptosis in oral
            squamous cell carcinoma via the miR-3940-3p/laminin subunit gamma 2
            axis
  JOURNAL   Bioengineered 13 (4), 11138-11153 (2022)
   PUBMED   35506252
  REMARK    GeneRIF: Long non-coding RNA BBOX1-antisense RNA 1 enhances cell
            proliferation and migration and suppresses apoptosis in oral
            squamous cell carcinoma via the miR-3940-3p/laminin subunit gamma 2
            axis.
REFERENCE   2  (bases 1 to 2035)
  AUTHORS   Xu,J., Yang,B., Wang,L., Zhu,Y., Zhu,X., Xia,Z., Zhao,Z. and Xu,L.
  TITLE     LncRNA BBOX1-AS1 upregulates HOXC6 expression through miR-361-3p
            and HuR to drive cervical cancer progression
  JOURNAL   Cell Prolif 53 (7), e12823 (2020)
   PUBMED   32515533
  REMARK    GeneRIF: BBOX1 antisense RNA 1 facilitates CC progression by
            upregulating HOXC6 expression via miR-361-3p and HuR.
REFERENCE   3  (bases 1 to 2035)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2035)
  AUTHORS   Zhou,L.T., Lv,L.L., Qiu,S., Yin,Q., Li,Z.L., Tang,T.T., Ni,L.H.,
            Feng,Y., Wang,B., Ma,K.L. and Liu,B.C.
  TITLE     Bioinformatics-based discovery of the urinary BBOX1 mRNA as a
            potential biomarker of diabetic kidney disease
  JOURNAL   J Transl Med 17 (1), 59 (2019)
   PUBMED   30819181
  REMARK    GeneRIF: urinary BBOX1 might serve as a promising biomarker of
            diabetic kidney disease.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2035)
  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 might be one of several genes that play a role in
            polygenic susceptibility to schizophrenia.
REFERENCE   6  (bases 1 to 2035)
  AUTHORS   Paul,H.S., Sekas,G. and Adibi,S.A.
  TITLE     Carnitine biosynthesis in hepatic peroxisomes. Demonstration of
            gamma-butyrobetaine hydroxylase activity
  JOURNAL   Eur J Biochem 203 (3), 599-605 (1992)
   PUBMED   1735445
REFERENCE   7  (bases 1 to 2035)
  AUTHORS   Rebouche,C.J.
  TITLE     Ascorbic acid and carnitine biosynthesis
  JOURNAL   Am J Clin Nutr 54 (6 Suppl), 1147S-1152S (1991)
   PUBMED   1962562
  REMARK    Review article
REFERENCE   8  (bases 1 to 2035)
  AUTHORS   Wehbie,R.S., Punekar,N.S. and Lardy,H.A.
  TITLE     Rat liver gamma-butyrobetaine hydroxylase catalyzed reaction:
            influence of potassium, substrates, and substrate analogues on
            hydroxylation and decarboxylation
  JOURNAL   Biochemistry 27 (6), 2222-2228 (1988)
   PUBMED   3378057
REFERENCE   9  (bases 1 to 2035)
  AUTHORS   Olson,A.L. and Rebouche,C.J.
  TITLE     gamma-Butyrobetaine hydroxylase activity is not rate limiting for
            carnitine biosynthesis in the human infant
  JOURNAL   J Nutr 117 (6), 1024-1031 (1987)
   PUBMED   3110383
REFERENCE   10 (bases 1 to 2035)
  AUTHORS   Lindstedt,S. and Nordin,I.
  TITLE     Multiple forms of gamma-butyrobetaine hydroxylase (EC 1.14.11.1)
  JOURNAL   Biochem J 223 (1), 119-127 (1984)
   PUBMED   6497835
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016450.10, DA268467.1,
            AF082868.1 and AC015756.18.
            
            On Nov 22, 2018 this sequence version replaced NM_003986.2.
            
            Summary: This gene encodes gamma butyrobetaine hydroxylase which
            catalyzes the formation of L-carnitine from gamma-butyrobetaine,
            the last step in the L-carnitine biosynthetic pathway. Carnitine is
            essential for the transport of activated fatty acids across the
            mitochondrial membrane during mitochondrial beta-oxidation.
            [provided by RefSeq, Jul 2008].
            
            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 :: SRR1803614.231103.1,
                                           SRR1803616.178359.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263182.8/ ENSP00000263182.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-147               AC016450.10        60524-60670         c
            148-449             DA268467.1         2-303
            450-920             AF082868.1         1-471
            921-923             AC015756.18        38093-38095
            924-1418            AF082868.1         475-969
            1419-1421           AC015756.18        70575-70577
            1422-2033           AF082868.1         973-1584
            2034-2035           AC015756.18        72662-72663
FEATURES             Location/Qualifiers
     source          1..2035
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p14.2"
     gene            1..2035
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /note="gamma-butyrobetaine hydroxylase 1"
                     /db_xref="GeneID:8424"
                     /db_xref="HGNC:HGNC:964"
                     /db_xref="MIM:603312"
     exon            1..214
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /inference="alignment:Splign:2.1.0"
     exon            215..477
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /inference="alignment:Splign:2.1.0"
     exon            478..734
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /inference="alignment:Splign:2.1.0"
     CDS             516..1679
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /EC_number="1.14.11.1"
                     /note="gamma-butyrobetaine,2-oxoglutarate dioxygenase 1;
                     butyrobetaine (gamma), 2-oxoglutarate dioxygenase
                     (gamma-butyrobetaine hydroxylase) 1"
                     /codon_start=1
                     /product="gamma-butyrobetaine dioxygenase"
                     /protein_id="NP_003977.1"
                     /db_xref="CCDS:CCDS7862.1"
                     /db_xref="GeneID:8424"
                     /db_xref="HGNC:HGNC:964"
                     /db_xref="MIM:603312"
                     /translation="MACTIQKAEALDGAHLMQILWYDEEESLYPAVWLRDNCPCSDCY
                     LDSAKARKLLVEALDVNIGIKGLIFDRKKVYITWPDEHYSEFQADWLKKRCFSKQARA
                     KLQRELFFPECQYWGSELQLPTLDFEDVLRYDEHAYKWLSTLKKVGIVRLTGASDKPG
                     EVSKLGKRMGFLYLTFYGHTWQVQDKIDANNVAYTTGKLSFHTDYPALHHPPGVQLLH
                     CIKQTVTGGDSEIVDGFNVCQKLKKNNPQAFQILSSTFVDFTDIGVDYCDFSVQSKHK
                     IIELDDKGQVVRINFNNATRDTIFDVPVERVQPFYAALKEFVDLMNSKESKFTFKMNP
                     GDVITFDNWRLLHGRRSYEAGTEISRHLEGAYADWDVVMSRLRILRQRVENGN"
     exon            735..849
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /inference="alignment:Splign:2.1.0"
     exon            850..1048
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1154
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /inference="alignment:Splign:2.1.0"
     exon            1155..1351
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /inference="alignment:Splign:2.1.0"
     exon            1352..1518
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /inference="alignment:Splign:2.1.0"
     exon            1519..2035
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1877..1882
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /note="hexamer: AATAAA"
     polyA_site      1904
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /note="major polyA site"
     regulatory      2007..2012
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
                     /note="hexamer: AATAAA"
     polyA_site      2035
                     /gene="BBOX1"
                     /gene_synonym="BBH; BBOX; G-BBH; gamma-BBH"
ORIGIN      
        1 atattggaat actctgttga caagtagata ccacttcacc tctgctaggg tgagcgctgg
       61 tagctcctcc ctgttaaatg cccatctcaa tgcctctgcc ctaagtgagt tgtgcaataa
      121 atgagctgtc actctgaaca ggtgggaaag aagtgaactg cttgttcact tgctgctgtt
      181 gccactgctg gtacagaaat agaaggtaag acagcacaaa aaaacaaaga caaaaaacct
      241 ccaagctccc ttcagtagtt gctacacctt cagattgaga catccttcct catttacaaa
      301 cctcagctgt gtctgggggc agggccacag tgaaactgcc aggagcaaaa aggcttccaa
      361 gaaaaagtac cacatcagat tggaaactgg ggacagatca ttcctgggat gtgacgggca
      421 ccagaatgct ccctctccaa aggatctaag gaccaaagct gacagtttct ttacttgcag
      481 gtagctgaca gcatctactc ctgaagaccg gaaacatggc ttgtaccatc caaaaggcag
      541 aagcacttga cggggctcat ttgatgcaga tcctctggta tgatgaggaa gagtctctct
      601 acccagctgt atggttgaga gacaactgtc cgtgctctga ttgctacctg gattctgcaa
      661 aagcacggaa acttctagtg gaagctcttg atgtgaacat tggaattaaa ggcttgatat
      721 ttgacagaaa aaaggtgtac atcacatggc ccgatgagca ttacagtgaa ttccaggctg
      781 attggctgaa gaaaagatgc ttttccaagc aggccagagc aaagctccaa agagaattgt
      841 tttttccaga atgccaatac tggggctcag agctccagct acccactttg gattttgaag
      901 atgttttaag atatgatgaa cacgcataca agtggctctc caccctcaag aaagtaggca
      961 tagtaagact caccggagca tctgacaaac caggagaagt ttcaaaactt gggaaaagga
     1021 tgggtttcct ctatctcaca ttttatggac atacttggca agtgcaagac aaaatcgatg
     1081 caaacaatgt ggcttacaca actgggaagc taagctttca cactgattat ccagccctcc
     1141 atcatccacc tggggttcag cttcttcact gcataaagca aacagtcaca gggggtgatt
     1201 cagaaattgt agatgggttt aatgtgtgcc aaaaactaaa gaaaaataat cctcaggcat
     1261 tccagatttt gtcctctacc tttgtggact ttacagacat tggagtggat tactgtgatt
     1321 tttctgtaca atcaaaacat aaaattatag agttagatga taaaggccaa gtggttcgca
     1381 tcaacttcaa taacgcaact agggacacaa tatttgatgt gcctgttgaa agagttcagc
     1441 ctttttatgc tgctctgaag gagtttgttg acctcatgaa cagcaaagaa tccaagttta
     1501 ccttcaagat gaatccaggt gatgtgatta cttttgataa ctggcgctta cttcatggcc
     1561 gacgtagcta tgaagcagga actgagatat cccgccatct agaaggagct tatgctgact
     1621 gggatgtggt catgtcaagg cttcgtatct taaggcagag ggtggagaat ggaaactgaa
     1681 gtcacctgta gataatttta ataagattcc aatgaccata ttttgtgaga tatggcacat
     1741 tattcacaga ccatgatctt tgtgatttac atataatttc cttaacaatg aacatgtaac
     1801 ttctctcaca agagtactct ttactttgta atcatataca atgtcaactt tttagatgtt
     1861 tcaccactct tttgcaaata aagcatcctt tctgctctgt tgcatgcctg ctctaatttc
     1921 ttttgcccat atatgagtat ctccagaatg tctacaaata gtttttgtag caaatgaaaa
     1981 tttcttcaaa taagcctttt gtttcaaata aaacttgtct caaaacatgc ttcta
//
