LOCUS       NM_017429               2429 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens beta-carotene oxygenase 1 (BCO1), mRNA.
ACCESSION   NM_017429
VERSION     NM_017429.3
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 2429)
  AUTHORS   Rivera-Paredez,B., Aparicio-Bautista,D.I., Argoty-Pantoja,A.D.,
            Patino,N., Flores Morales,J., Salmeron,J., Leon-Reyes,G. and
            Velazquez-Cruz,R.
  TITLE     Association of MARC1, ADCY5, and BCO1 Variants with the Lipid
            Profile, Suggests an Additive Effect for Hypertriglyceridemia in
            Mexican Adult Men
  JOURNAL   Int J Mol Sci 23 (19), 11815 (2022)
   PUBMED   36233117
  REMARK    GeneRIF: Association of MARC1, ADCY5, and BCO1 Variants with the
            Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia
            in Mexican Adult Men.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2429)
  AUTHORS   Mooney,R.E., Linden,G.J., Winning,L., Linden,K., Kee,F.,
            McKeown,P.P., Woodside,J.V., Patterson,C.C. and McKay,G.J.
  TITLE     Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary
            heart disease and IL1B rs16944 with all-cause mortality in men from
            the Northern Ireland PRIME study
  JOURNAL   PLoS One 17 (8), e0273333 (2022)
   PUBMED   35994463
  REMARK    GeneRIF: Association of TGFB1 rs1800469 and BCMO1 rs6564851 with
            coronary heart disease and IL1B rs16944 with all-cause mortality in
            men from the Northern Ireland PRIME study.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2429)
  AUTHORS   Leon-Reyes,G., Rivera-Paredez,B., Hidalgo-Bravo,A., Flores,Y.N.,
            Salmeron,J. and Velazquez-Cruz,R.
  TITLE     Common variant rs6564851 near the beta-carotene oxygenase 1 gene is
            associated with plasma triglycerides levels in middle-aged Mexican
            men adults
  JOURNAL   Nutr Res 103, 30-39 (2022)
   PUBMED   35461060
  REMARK    GeneRIF: Common variant rs6564851 near the beta-carotene oxygenase
            1 gene is associated with plasma triglycerides levels in
            middle-aged Mexican men adults.
REFERENCE   4  (bases 1 to 2429)
  AUTHORS   Ye,C.Y., Xin,J.R., Li,Z., Yin,X.Y., Guo,S.L., Li,J.M., Zhao,T.Y.,
            Wang,L. and Yang,L.
  TITLE     ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced traits
            are jointly associated with CAD risk in Chinese Han people
  JOURNAL   Gene 807, 145948 (2022)
   PUBMED   34481002
  REMARK    GeneRIF: ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced
            traits are jointly associated with CAD risk in Chinese Han people.
REFERENCE   5  (bases 1 to 2429)
  AUTHORS   Grassmann,S., Pivovarova-Ramich,O., Henze,A., Raila,J., Ampem
            Amoako,Y., King Nyamekye,R., Bedu-Addo,G., Mockenhaupt,F.P.,
            Schulze,M.B. and Danquah,I.
  TITLE     SNP rs6564851 in the BCO1 Gene Is Associated with Varying
            Provitamin a Plasma Concentrations but Not with Retinol
            Concentrations among Adolescents from Rural Ghana
  JOURNAL   Nutrients 12 (6), 1786 (2020)
   PUBMED   32560166
  REMARK    GeneRIF: SNP rs6564851 in the BCO1 Gene Is Associated with Varying
            Provitamin a Plasma Concentrations but Not with Retinol
            Concentrations among Adolescents from Rural Ghana.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2429)
  AUTHORS   Lindqvist,A., Sharvill,J., Sharvill,D.E. and Andersson,S.
  TITLE     Loss-of-function mutation in carotenoid 15,15'-monooxygenase
            identified in a patient with hypercarotenemia and hypovitaminosis A
  JOURNAL   J Nutr 137 (11), 2346-2350 (2007)
   PUBMED   17951468
  REMARK    GeneRIF: Haploinsufficiency of the CMO1 enzyme caused
            hypercarotenemia and hypovitaminosis A in individuals consuming a
            carotenoid-containing and vitamin A-deficient diet.
REFERENCE   7  (bases 1 to 2429)
  AUTHORS   Gong,X., Tsai,S.W., Yan,B. and Rubin,L.P.
  TITLE     Cooperation between MEF2 and PPARgamma in human intestinal
            beta,beta-carotene 15,15'-monooxygenase gene expression
  JOURNAL   BMC Mol Biol 7, 7 (2006)
   PUBMED   16504037
  REMARK    GeneRIF: Study demonstrates that human intestinal cell BCMO1
            expression is dependent on the functional cooperation between
            peroxisome proliferator-activated receptor-gamma and myocyte
            enhancer factor 2 isoforms.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2429)
  AUTHORS   Lindqvist,A., He,Y.G. and Andersson,S.
  TITLE     Cell type-specific expression of beta-carotene 9',10'-monooxygenase
            in human tissues
  JOURNAL   J Histochem Cytochem 53 (11), 1403-1412 (2005)
   PUBMED   15983114
REFERENCE   9  (bases 1 to 2429)
  AUTHORS   Payne,A.H. and Hales,D.B.
  TITLE     Overview of steroidogenic enzymes in the pathway from cholesterol
            to active steroid hormones
  JOURNAL   Endocr Rev 25 (6), 947-970 (2004)
   PUBMED   15583024
  REMARK    Review article
REFERENCE   10 (bases 1 to 2429)
  AUTHORS   Yan,W., Jang,G.F., Haeseleer,F., Esumi,N., Chang,J., Kerrigan,M.,
            Campochiaro,M., Campochiaro,P., Palczewski,K. and Zack,D.J.
  TITLE     Cloning and characterization of a human
            beta,beta-carotene-15,15'-dioxygenase that is highly expressed in
            the retinal pigment epithelium
  JOURNAL   Genomics 72 (2), 193-202 (2001)
   PUBMED   11401432
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC131888.1, AF294900.1 and
            BC022269.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_017429.2.
            
            Summary: Vitamin A metabolism is important for vital processes such
            as vision, embryonic development, cell differentiation, and
            membrane and skin protection. The protein encoded by this gene is a
            key enzyme in beta-carotene metabolism to vitamin A. It catalyzes
            the oxidative cleavage of beta,beta-carotene into two retinal
            molecules. [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 :: AF294900.1, SRR1803611.203965.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258168.7/ ENSP00000258168.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC131888.1         48047-48048         c
            3-324               AF294900.1         1-322
            325-691             BC022269.1         323-689
            692-2429            AF294900.1         690-2427
FEATURES             Location/Qualifiers
     source          1..2429
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.2"
     gene            1..2429
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /note="beta-carotene oxygenase 1"
                     /db_xref="GeneID:53630"
                     /db_xref="HGNC:HGNC:13815"
                     /db_xref="MIM:605748"
     exon            1..284
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /inference="alignment:Splign:2.1.0"
     CDS             221..1864
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /EC_number="1.13.11.63"
                     /note="beta-carotene 15, 15'-dioxygenase 1;
                     beta,beta-carotene 15,15'-monooxygenase; beta-carotene
                     dioxygenase 1; beta-carotene 15,15'-monooxygenase 1"
                     /codon_start=1
                     /product="beta,beta-carotene 15,15'-dioxygenase"
                     /protein_id="NP_059125.2"
                     /db_xref="CCDS:CCDS10934.1"
                     /db_xref="GeneID:53630"
                     /db_xref="HGNC:HGNC:13815"
                     /db_xref="MIM:605748"
                     /translation="MDIIFGRNRKEQLEPVRAKVTGKIPAWLQGTLLRNGPGMHTVGE
                     SRYNHWFDGLALLHSFTIRDGEVYYRSKYLRSDTYNTNIEANRIVVSEFGTMAYPDPC
                     KNIFSKAFSYLSHTIPDFTDNCLINIMKCGEDFYATSETNYIRKINPQTLETLEKVDY
                     RKYVAVNLATSHPHYDEAGNVLNMGTSIVEKGKTKYVIFKIPATVPEGKKQGKSPWKH
                     TEVFCSIPSRSLLSPSYYHSFGVTENYVIFLEQPFRLDILKMATAYIRRMSWASCLAF
                     HREEKTYIHIIDQRTRQPVQTKFYTDAMVVFHHVNAYEEDGCIVFDVIAYEDNSLYQL
                     FYLANLNQDFKENSRLTSVPTLRRFAVPLHVDKNAEVGTNLIKVASTTATALKEEDGQ
                     VYCQPEFLYEGLELPRVNYAHNGKQYRYVFATGVQWSPIPTKIIKYDILTKSSLKWRE
                     DDCWPAEPLFVPAPGAKDEDDGVILSAIVSTDPQKLPFLLILDAKSFTELARASVDVD
                     MHMDLHGLFITDMDWDTKKQAASEEQRDRASDCHGAPLT"
     exon            285..413
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /inference="alignment:Splign:2.1.0"
     exon            414..543
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /inference="alignment:Splign:2.1.0"
     exon            544..691
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /inference="alignment:Splign:2.1.0"
     exon            692..839
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /inference="alignment:Splign:2.1.0"
     exon            840..1063
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1321
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1427
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1522
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1634
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /inference="alignment:Splign:2.1.0"
     exon            1635..2429
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2410..2415
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /note="hexamer: AATAAA"
     polyA_site      2429
                     /gene="BCO1"
                     /gene_synonym="BCDO; BCDO1; BCMO; BCMO1; BCO"
                     /note="major polyA site"
ORIGIN      
        1 gtgaatgtaa agagatccag ggctcttgga gagggacaag tgagagccag ccaaaaagga
       61 aaaagcaaag gcagaaacgg catcaggaga gacagagatg tgaaggaggg aaggagcagg
      121 agagcaggaa ggaaacgcag gaggagggag cagcatctcc tgtgaacaca gaggagcacc
      181 tgtttgctgt taaaatcgat ctccctcggc accctgagca atggatataa tatttggcag
      241 gaataggaaa gaacagctgg agcctgtgag ggccaaagtg acaggcaaga ttccagcatg
      301 gctgcaggga accctgctcc gcaatgggcc tgggatgcac acagttgggg agtccagata
      361 caaccattgg ttcgacggcc ttgccctgct ccacagcttc accatcagag acggtgaagt
      421 ctattacagg agcaaatacc tgagaagcga tacctacaac accaatattg aggcaaacag
      481 gattgtggtg tctgagtttg gaacaatggc ctatccggac ccctgcaaaa acatattttc
      541 caaagctttc tcctacttgt ctcacaccat ccccgatttc accgacaact gcctgatcaa
      601 catcatgaag tgcggagaag acttctacgc gacctcagag accaattaca tcaggaaaat
      661 caacccacag actctggaaa ccctggagaa ggttgattat cgtaaatacg tggcggtaaa
      721 tctggcaacg tcacatcccc attatgatga ggctggaaat gttctaaaca tgggcacatc
      781 cattgtggaa aaggggaaga caaagtatgt gatttttaag atccctgcca cagtaccaga
      841 gggcaagaag caggggaaga gcccctggaa gcacacagag gtgttctgct ccatcccatc
      901 ccgctccctg ctctccccaa gctactacca cagctttgga gtcaccgaga actatgtcat
      961 cttccttgag cagcctttca ggttggatat tctcaagatg gcaaccgcat acatccggag
     1021 aatgagctgg gcctcctgcc tggctttcca cagggaggag aagacttata tccacatcat
     1081 cgaccaaagg accaggcagc ctgtgcagac caagttttac acagacgcca tggtggtctt
     1141 ccatcacgtc aacgcctacg aagaggacgg ctgcatcgtg tttgacgtca ttgcctacga
     1201 ggacaacagc ctctaccagc tcttctacct ggccaacctg aaccaggact tcaaggagaa
     1261 ctccaggctc acctcggtcc ccaccctcag gaggtttgcc gtgcccctcc acgtggacaa
     1321 gaatgcagaa gtgggcacaa atttaatcaa agtggcatct acaacagcca cggccctgaa
     1381 ggaagaagat ggccaagtct actgccagcc ggaatttctt tatgaaggct tagagcttcc
     1441 acgggtcaat tatgctcaca atggaaagca ataccgatat gtctttgcta caggagttca
     1501 gtggagtcca atcccaacca agataataaa atatgacatt ctcacaaagt catccttaaa
     1561 atggagagag gacgactgct ggccagcgga acccctgttt gtgcccgcgc caggtgccaa
     1621 ggatgaggat gacggagtaa tcttatcagc cattgtctct actgatcccc aaaagctgcc
     1681 ttttctgctc attctggatg ccaaaagctt tacggaattg gcccgtgcct ctgttgatgt
     1741 cgatatgcac atggatctcc atggattatt cattacagac atggactggg acacaaaaaa
     1801 gcaggccgct tctgaggaac agcgggacag ggcttccgac tgccacgggg ctcctctgac
     1861 ctgatggtgt tggggtttgg gtaggggagg ggagctcggc tgtcagaact ccatggatat
     1921 gtttctttgg atggagggga gggcctttgt taccttttgc acttattctt tctgtgggtg
     1981 ctttgacaag ggcatggcaa gagagcttgt cagtatcatt tctttcattt tattttggct
     2041 gtaaaaattt tgtttgaaag tcaaacattt gaacatcaaa tatgtattga ttagatccag
     2101 tccttctaag aaacctcctt tcctttaaca aaaagacctt gaccatgaat cagagattgt
     2161 attcaatgac attatcatca tttttagaac gagccactaa cctattagag aagaggcaga
     2221 taattattta tcattgtgcc ttcctctgtc tctttctctt tcctttgctc cctcccatgt
     2281 ttctggtgga ctaaattgtg tatctgggag ttctcacttt ctagccaggc ctgatgagtt
     2341 aagttacatg accaggaagg ttatgccact ttgtggtcat tccatgcaag tcatggcgta
     2401 atataaaata ataaaaactt taaagtctg
//
