LOCUS       NM_004391               3688 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens cytochrome P450 family 8 subfamily B member 1
            (CYP8B1), mRNA.
ACCESSION   NM_004391
VERSION     NM_004391.3
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 3688)
  AUTHORS   Zhong,S., Chevre,R., Castano Mayan,D., Corliano,M., Cochran,B.J.,
            Sem,K.P., van Dijk,T.H., Peng,J., Tan,L.J., Hartimath,S.V.,
            Ramasamy,B., Cheng,P., Groen,A.K., Kuipers,F., Goggi,J.L., Drum,C.,
            van Dam,R.M., Tan,R.S., Rye,K.A., Hayden,M.R., Cheng,C.Y.,
            Chacko,S., Flannick,J., Sim,X., Tan,H.C. and Singaraja,R.R.
  TITLE     Haploinsufficiency of CYP8B1 associates with increased insulin
            sensitivity in humans
  JOURNAL   J Clin Invest 132 (21), e152961 (2022)
   PUBMED   36107630
  REMARK    GeneRIF: Haploinsufficiency of CYP8B1 associates with increased
            insulin sensitivity in humans.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3688)
  AUTHORS   Fan,L., Joseph,J.F., Durairaj,P., Parr,M.K. and Bureik,M.
  TITLE     Conversion of chenodeoxycholic acid to cholic acid by human CYP8B1
  JOURNAL   Biol Chem 400 (5), 625-628 (2019)
   PUBMED   30465713
  REMARK    GeneRIF: demonstration that CYP8B1 can also convert
            chenodeoxycholic acid (CDCA) itself to cholic acid (CA)
REFERENCE   3  (bases 1 to 3688)
  AUTHORS   Goldstein,J.I., Jarskog,L.F., Hilliard,C., Alfirevic,A., Duncan,L.,
            Fourches,D., Huang,H., Lek,M., Neale,B.M., Ripke,S., Shianna,K.,
            Szatkiewicz,J.P., Tropsha,A., van den Oord,E.J., Cascorbi,I.,
            Dettling,M., Gazit,E., Goff,D.C., Holden,A.L., Kelly,D.L.,
            Malhotra,A.K., Nielsen,J., Pirmohamed,M., Rujescu,D., Werge,T.,
            Levy,D.L., Josiassen,R.C., Kennedy,J.L., Lieberman,J.A., Daly,M.J.
            and Sullivan,P.F.
  TITLE     Clozapine-induced agranulocytosis is associated with rare HLA-DQB1
            and HLA-B alleles
  JOURNAL   Nat Commun 5, 4757 (2014)
   PUBMED   25187353
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3688)
  AUTHORS   Pathak,P., Li,T. and Chiang,J.Y.
  TITLE     Retinoic acid-related orphan receptor alpha regulates diurnal
            rhythm and fasting induction of sterol 12alpha-hydroxylase in bile
            acid synthesis
  JOURNAL   J Biol Chem 288 (52), 37154-37165 (2013)
   PUBMED   24226095
  REMARK    GeneRIF: RORalpha is a key regulator of diurnal rhythm and fasting
            induction of CYP8B1, which regulates bile acid composition and
            serum and liver cholesterol levels.
REFERENCE   5  (bases 1 to 3688)
  AUTHORS   Qin,J., Han,T.Q., Yuan,W.T., Zhang,J., Fei,J., Jiang,Z.Y.,
            Niu,Z.M., Zhang,K.Y., Hua,Q., Cai,X.X., Xu,S.J., Huang,W. and
            Zhang,S.D.
  TITLE     Single nucleotide polymorphism rs3732860 in the 3'-untranslated
            region of CYP8B1 gene is associated with gallstone disease in Han
            Chinese
  JOURNAL   J Gastroenterol Hepatol 28 (4), 717-722 (2013)
   PUBMED   23216301
  REMARK    GeneRIF: The single nucleotide polymorphism rs3732860 in the
            3'-untranslated region of the CYP8B1 gene is associated with risk
            of Gallstone Disease in Chinese Han.
REFERENCE   6  (bases 1 to 3688)
  AUTHORS   Wang,J., Greene,S., Eriksson,L.C., Rozell,B., Reihner,E.,
            Einarsson,C., Eggertsen,G. and Gafvels,M.
  TITLE     Human sterol 12a-hydroxylase (CYP8B1) is mainly expressed in
            hepatocytes in a homogenous pattern
  JOURNAL   Histochem Cell Biol 123 (4-5), 441-446 (2005)
   PUBMED   15891895
  REMARK    GeneRIF: Studies indicate a homogenous pattern for CYP8B1
            expression in human liver, which was even rather than zonal.
REFERENCE   7  (bases 1 to 3688)
  AUTHORS   Yang,Y., Eggertsen,G., Gafvels,M., Andersson,U., Einarsson,C.,
            Bjorkhem,I. and Chiang,J.Y.
  TITLE     Mechanisms of cholesterol and sterol regulatory element binding
            protein regulation of the sterol 12alpha-hydroxylase gene (CYP8B1)
  JOURNAL   Biochem Biophys Res Commun 320 (4), 1204-1210 (2004)
   PUBMED   15249218
  REMARK    GeneRIF: Cholesterol loading reduces SREBP-1 mRNA expression in
            addition to reducing functional SREBP-1 protein, and results in
            decreasing CYP8B1 gene transcription.
REFERENCE   8  (bases 1 to 3688)
  AUTHORS   Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and
            Nebert,D.W.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   9  (bases 1 to 3688)
  AUTHORS   Zhang,M. and Chiang,J.Y.
  TITLE     Transcriptional regulation of the human sterol 12alpha-hydroxylase
            gene (CYP8B1): roles of heaptocyte nuclear factor 4alpha in
            mediating bile acid repression
  JOURNAL   J Biol Chem 276 (45), 41690-41699 (2001)
   PUBMED   11535594
REFERENCE   10 (bases 1 to 3688)
  AUTHORS   Gafvels,M., Olin,M., Chowdhary,B.P., Raudsepp,T., Andersson,U.,
            Persson,B., Jansson,M., Bjorkhem,I. and Eggertsen,G.
  TITLE     Structure and chromosomal assignment of the sterol
            12alpha-hydroxylase gene (CYP8B1) in human and mouse: eukaryotic
            cytochrome P-450 gene devoid of introns
  JOURNAL   Genomics 56 (2), 184-196 (1999)
   PUBMED   10051404
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099329.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004391.2.
            
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            This endoplasmic reticulum membrane protein catalyzes the
            conversion of 7 alpha-hydroxy-4-cholesten-3-one into
            7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between
            these two steroids determines the relative amounts of cholic acid
            and chenodeoxycholic acid both of which are secreted in the bile
            and affect the solubility of cholesterol. This gene is unique among
            the cytochrome P450 genes in that it is intronless. [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 is intronless :: AF090318.1, AK315330.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316161.6/ ENSP00000318867.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3688              AC099329.2         148659-152346       c
FEATURES             Location/Qualifiers
     source          1..3688
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     gene            1..3688
                     /gene="CYP8B1"
                     /gene_synonym="CP8B; CYP12; CYPVIIIB1"
                     /note="cytochrome P450 family 8 subfamily B member 1"
                     /db_xref="GeneID:1582"
                     /db_xref="HGNC:HGNC:2653"
                     /db_xref="MIM:602172"
     exon            1..3688
                     /gene="CYP8B1"
                     /gene_synonym="CP8B; CYP12; CYPVIIIB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..1569
                     /gene="CYP8B1"
                     /gene_synonym="CP8B; CYP12; CYPVIIIB1"
                     /EC_number="1.14.14.139"
                     /note="7 alpha-hydroxy-4-cholesten-3-one
                     12-alpha-hydroxylase; sterol 12-alpha-hydroxylase;
                     cytochrome P450, subfamily VIIIB (sterol
                     12-alpha-hydroxylase), polypeptide 1; cytochrome P450 8B1;
                     cytochrome P450, family 8, subfamily B, polypeptide 1"
                     /codon_start=1
                     /product="7-alpha-hydroxycholest-4-en-3-one
                     12-alpha-hydroxylase"
                     /protein_id="NP_004382.2"
                     /db_xref="CCDS:CCDS2707.1"
                     /db_xref="GeneID:1582"
                     /db_xref="HGNC:HGNC:2653"
                     /db_xref="MIM:602172"
                     /translation="MVLWGPVLGALLVVIAGYLCLPGMLRQRRPWEPPLDKGTVPWLG
                     HAMAFRKNMFEFLKRMRTKHGDVFTVQLGGQYFTFVMDPLSFGSILKDTQRKLDFGQY
                     AKKLVLKVFGYRSVQGDHEMIHSASTKHLRGDGLKDLNETMLDSLSFVMLTSKGWSLD
                     ASCWHEDSLFRFCYYILFTAGYLSLFGYTKDKEQDLLQAGELFMEFRKFDLLFPRFVY
                     SLLWPREWLEVGRLQRLFHKMLSVSHSQEKEGISNWLGNMLQFLREQGVPSAMQDKFN
                     FMMLWASQGNTGPTSFWALLYLLKHPEAIRAVREEATQVLGEARLETKQSFAFKLGAL
                     QHTPVLDSVVEETLRLRAAPTLLRLVHEDYTLKMSSGQEYLFRHGDILALFPYLSVHM
                     DPDIHPEPTVFKYDRFLNPNGSRKVDFFKTGKKIHHYTMPWGSGVSICPGRFFALSEV
                     KLFILLMVTHFDLELVDPDTPLPHVDPQRWGFGTMQPSHDVRFRYRLHPTE"
     regulatory      3669..3674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP8B1"
                     /gene_synonym="CP8B; CYP12; CYPVIIIB1"
                     /note="hexamer: ATTAAA"
     polyA_site      3688
                     /gene="CYP8B1"
                     /gene_synonym="CP8B; CYP12; CYPVIIIB1"
                     /note="major polyA site"
ORIGIN      
        1 aaagctctct ggcacccagg gaacagtgtg cgtgtcgaga gcttaatccg caggagcata
       61 gccatggttc tctggggtcc agtgctggga gctctgctgg tggtcattgc tggatacctg
      121 tgcctgccag ggatgctccg acaacgcagg ccatgggagc cccctctgga caagggtacc
      181 gtgccctggc ttggccatgc catggctttc cggaagaata tgtttgaatt tctgaagcgc
      241 atgaggacca agcatgggga tgtgttcaca gtgcagctag ggggccagta cttcaccttc
      301 gtcatggacc ccctctcctt tggctccatc ctcaaggaca cacagagaaa actagacttt
      361 gggcaatatg caaaaaaact ggtgctgaag gtatttggat accgttcagt gcaaggggac
      421 catgagatga tacactcagc cagcaccaag catctgaggg gggatggctt gaaggatctt
      481 aatgagacca tgctggacag cctgtccttt gtaatgctga cgtccaaagg ctggagtctg
      541 gatgccagtt gctggcatga ggacagcctc tttcgcttct gctattacat cttgttcaca
      601 gctggctacc tgagcttgtt cggctacacg aaggacaagg agcaggacct gctacaggca
      661 ggagagttat tcatggagtt ccgcaagttt gaccttcttt tcccaaggtt tgtctactcc
      721 ctgctgtggc cccgggagtg gctagaagtg ggccgactcc agcgtctctt tcacaagatg
      781 ctctccgtga gccacagcca ggagaaggag ggcatcagca actggctggg caacatgctt
      841 cagtttctga gggagcaggg ggtaccctca gctatgcagg acaagttcaa cttcatgatg
      901 ctctgggcct cccaggggaa cacggggcct acctctttct gggccctctt gtacctcctg
      961 aagcacccag aagctattcg ggctgtgagg gaggaagcta cccaggtcct gggtgaggcc
     1021 aggctggaga ccaagcagtc ctttgccttc aaactcggtg ccctgcaaca caccccagtt
     1081 ctagacagcg tggtggagga gacgctgcgg ctgagggctg cacccaccct cctcaggttg
     1141 gttcatgaag actataccct gaagatgtcc agtgggcagg agtatctgtt ccgccatgga
     1201 gacatcctgg ccctctttcc ctacctctca gtgcacatgg accctgacat ccaccctgag
     1261 cccaccgtct tcaagtacga tcgcttcctc aaccctaatg gcagccggaa agtggacttc
     1321 ttcaagacag gcaagaagat ccaccactac accatgccct ggggttcggg cgtttccatc
     1381 tgccctggga ggttctttgc actcagtgag gtgaagctct ttatcctgct tatggtcaca
     1441 cactttgact tagagttggt ggaccctgac acaccactac cccatgttga cccgcagcgc
     1501 tggggttttg gcaccatgca gcccagccac gatgtgcgct tccgctaccg cctgcatcct
     1561 acagagtgag cttggccaag ccagctgcaa acctggccag aggagttcta ttgcatctct
     1621 cacctgttct cacccctctg cagccccaag accccactgg ccacccctcc ctctggtcct
     1681 gtggcacccc ctacctctgt tctgcctgtc ctcgctctct ccccgcctag tcatctgaca
     1741 ggcttatcat tctctttaaa ataccatctc tcagagtggg ttctgccgaa ccctcctctc
     1801 acaggaagtc cagaggaagg gggagtatct gtgggcaact tggtttggga gatgatgcct
     1861 gccttgagaa gtcctgagta cagagactgg ttccccccag acacgagtaa catggcatct
     1921 tgcaaacatc agcctccact ctcccagctt gctttagttt tttcagcaac acttatccca
     1981 catcctatgg aattcaggtt ctagaacagt gtcatccaac ataaatatga agcaagctac
     2041 atgagtagtg gggttttttg gttttgtttg tttgttttga gacagagtct tgctctgtcg
     2101 ccgaggctgc agtgcagcgg tgcgatctct gctcactgca acctctgcct cctgggttta
     2161 agcaattctc ctgcctcagc ctccccagta gctgggatta caggcaccta ccaccttgcc
     2221 cagctaattt agtttcctgg taaacacatt tttaaaaagt aaaatgaaac aattcatttt
     2281 tataatatac tttacttaat ccaatatatc caaaatattg gcatttcaac gtgatcacta
     2341 ttaaaaattt taacgtaata gtttttacct tccctttttc atcctgtctt caaagtctgg
     2401 tatgtactgt acttttgcag ttcttcccag ttcagactag ccacattcca agtgcttaat
     2461 tgccgtgtgt ggcaggtggc tgccctattg gatagcacag gtctagagaa atgatacctt
     2521 tttttttttt tgagacagag tctcactctg ttgcccaggc tgcagtgcag tggtgtgatc
     2581 ttggctcact acaacctctg cctcccgggt tcaagtaatt ctcctgcctc aggcttctga
     2641 gtagctggga ttataggtgc gcaccaccac acccggctag tttctgtatt tttagtagag
     2701 acggcgtttc accattttgg ccggcctcct cggcctccca aagttctggg attacaggca
     2761 tgagccactg tgcccagtca ggatgtcttt aatgtaggaa tcattcaaga tccctcctca
     2821 gtgcccatgt ctcccccacc tcagggtgct gtcaaccctc ccttggtttc catgatcatt
     2881 gctgaactca gagctttctt ctatccccag acccacatgg gagtctccca gcacctctga
     2941 ctcagcttgg ccaatgcaga acttggcatc tgaacccctg cctcttccct gaaccactcc
     3001 tcctcctgat ttccctgctc tctctgctca gaacactacc attcacccca tctcccagag
     3061 acactctccc tcctcctctt tcaccttcat acaagcaggc ccccgtccta tcagtacacc
     3121 cccctgtgat gcctctgaaa tatgtaccct cctcccctct cctactgtca ttcttatacc
     3181 tgtgatctct gcgtttctct tctacactgc tgccagaggc ctttttgcca aaagcactgc
     3241 tgattgtcac tcttttactt tcctggttcc cctttgactt cacacacttg acgtttacat
     3301 tttgtcacag ttggtccccc ttgccttcac atacctgatg tttaaatttt gtcacggtta
     3361 gtctccaaac ttctcaactt tgccagcttt ctccaatgaa accatcagta gagacattgc
     3421 tgttcctgcc catcccagtg ccagctactc cttcctggaa gccttcctgg atttcacgca
     3481 tcccatcctc tggccagaaa tggcctccga actgtgcagc tcctgcagca ccatttgtat
     3541 catagcatat ctgttatgtg tcgttgcttt ctgtgtcttg gtttctgcct gctgcccact
     3601 tccctagact ggagcctact ggggcatggt attttattca tttctgacct ccaattccct
     3661 aagtggagat taaatgttag aaacctga
//
