LOCUS       NM_000104               5218 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens cytochrome P450 family 1 subfamily B member 1
            (CYP1B1), mRNA.
ACCESSION   NM_000104
VERSION     NM_000104.4
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 5218)
  AUTHORS   Tung,H.C., Kim,J.W., Zhu,J., Li,S., Yan,J., Liu,Q., Koo,I.,
            Koshkin,S.A., Hao,F., Zhong,G., Xu,M., Wang,Z., Wang,J., Huang,Y.,
            Xi,Y., Cai,X., Xu,P., Ren,S., Higashiyama,T., Gonzalez,F.J., Li,S.,
            Isoherranen,N., Yang,D., Ma,X., Patterson,A.D. and Xie,W.
  TITLE     Inhibition of heme-thiolate monooxygenase CYP1B1 prevents hepatic
            stellate cell activation and liver fibrosis by accumulating
            trehalose
  JOURNAL   Sci Transl Med 16 (766), eadk8446 (2024)
   PUBMED   39321267
  REMARK    GeneRIF: Inhibition of heme-thiolate monooxygenase CYP1B1 prevents
            hepatic stellate cell activation and liver fibrosis by accumulating
            trehalose.
REFERENCE   2  (bases 1 to 5218)
  AUTHORS   Nho,K., Risacher,S.L., Apostolova,L.G., Bice,P.J., Brosch,J.R.,
            Deardorff,R., Faber,K., Farlow,M.R., Foroud,T., Gao,S.,
            Rosewood,T., Kim,J.P., Nudelman,K., Yu,M., Aisen,P., Sperling,R.,
            Hooli,B., Shcherbinin,S., Svaldi,D., Jack,C.R. Jr., Jagust,W.J.,
            Landau,S., Vasanthakumar,A., Waring,J.F., Dore,V., Laws,S.M.,
            Masters,C.L., Porter,T., Rowe,C.C., Villemagne,V.L., Dumitrescu,L.,
            Hohman,T.J., Libby,J.B., Mormino,E., Buckley,R.F., Johnson,K.,
            Yang,H.S., Petersen,R.C., Ramanan,V.K., Ertekin-Taner,N.,
            Vemuri,P., Cohen,A.D., Fan,K.H., Kamboh,M.I., Lopez,O.L.,
            Bennett,D.A., Ali,M., Benzinger,T., Cruchaga,C., Hobbs,D., De
            Jager,P.L., Fujita,M., Jadhav,V., Lamb,B.T., Tsai,A.P.,
            Castanho,I., Mill,J., Weiner,M.W. and Saykin,A.J.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative (ADNI); Department of
            Defense Alzheimer's Disease Neuroimaging Initiative (DoD-ADNI);
            Anti-Amyloid Treatment in Asymptomatic Alzheimer's Study (A4 Study)
            and Longitudinal Evaluation of Amyloid Risk and Neurodegeneration
            (LEARN); Australian Imaging, Biomarker & Lifestyle Study (AIBL)
  TITLE     CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for
            cerebral tau PET
  JOURNAL   Nat Commun 15 (1), 8251 (2024)
   PUBMED   39304655
  REMARK    GeneRIF: CYP1B1-RMDN2 Alzheimer's disease endophenotype locus
            identified for cerebral tau PET.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5218)
  AUTHORS   ElKhatib,M.A.W., Gerges,S.H., Isse,F.A. and El-Kadi,A.O.S.
  TITLE     Cytochrome P450 1B1 is critical in the development of TNF-alpha,
            IL-6, and LPS-induced cellular hypertrophy
  JOURNAL   Can J Physiol Pharmacol 102 (7), 408-421 (2024)
   PUBMED   38701513
  REMARK    GeneRIF: Cytochrome P450 1B1 is critical in the development of
            TNF-alpha, IL-6, and LPS-induced cellular hypertrophy.
REFERENCE   4  (bases 1 to 5218)
  AUTHORS   Chen,H., Cheng,Z., Wang,M., Huang,Q., Zheng,D., Huang,Q. and Cai,K.
  TITLE     Circ_0020887 Silencing Combats Hypoxic-Induced Cardiomyocyte Injury
            in an MiR-370-3p/CYP1B1-Dependent Manner
  JOURNAL   Int Heart J 65 (2), 308-317 (2024)
   PUBMED   38479850
  REMARK    GeneRIF: Circ_0020887 Silencing Combats Hypoxic-Induced
            Cardiomyocyte Injury in an MiR-370-3p/CYP1B1-Dependent Manner.
REFERENCE   5  (bases 1 to 5218)
  AUTHORS   Devlin,A.H., Thompson,P., Robson,T. and McKeown,S.R.
  TITLE     Cytochrome P450 1B1 mRNA untranslated regions interact to inhibit
            protein translation
  JOURNAL   Mol Carcinog 49 (2), 190-199 (2010)
   PUBMED   19908239
REFERENCE   6  (bases 1 to 5218)
  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   7  (bases 1 to 5218)
  AUTHORS   Tang,Y.M., Wo,Y.Y., Stewart,J., Hawkins,A.L., Griffin,C.A.,
            Sutter,T.R. and Greenlee,W.F.
  TITLE     Isolation and characterization of the human cytochrome P450 CYP1B1
            gene
  JOURNAL   J Biol Chem 271 (45), 28324-28330 (1996)
   PUBMED   8910454
REFERENCE   8  (bases 1 to 5218)
  AUTHORS   Sutter,T.R., Tang,Y.M., Hayes,C.L., Wo,Y.Y., Jabs,E.W., Li,X.,
            Yin,H., Cody,C.W. and Greenlee,W.F.
  TITLE     Complete cDNA sequence of a human dioxin-inducible mRNA identifies
            a new gene subfamily of cytochrome P450 that maps to chromosome 2
  JOURNAL   J Biol Chem 269 (18), 13092-13099 (1994)
   PUBMED   8175734
REFERENCE   9  (bases 1 to 5218)
  AUTHORS   Abu-Amero,K.K. and Edward,D.P.
  TITLE     Primary Congenital Glaucoma
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301314
REFERENCE   10 (bases 1 to 5218)
  AUTHORS   Sutter,T.R., Guzman,K., Dold,K.M. and Greenlee,W.F.
  TITLE     Targets for dioxin: genes for plasminogen activator inhibitor-2 and
            interleukin-1 beta
  JOURNAL   Science 254 (5030), 415-418 (1991)
   PUBMED   1925598
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009229.6, KF573675.1 and
            KF459611.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 21, 2020 this sequence version replaced NM_000104.3.
            
            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.
            The enzyme encoded by this gene localizes to the endoplasmic
            reticulum and metabolizes procarcinogens such as polycyclic
            aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene
            have been associated with primary congenital glaucoma; therefore it
            is thought that the enzyme also metabolizes a signaling molecule
            involved in eye development, possibly a steroid. [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 :: SRR14038194.379689.1, U03688.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000610745.5/ ENSP00000478561.1
            RefSeq Select criteria :: based on single protein-coding transcript
            regulatory uORF        :: PMID: 19908239
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-101               AC009229.6         185152-185252
            102-372             KF573675.1         72-342              c
            373-1416            AC009229.6         185914-186957
            1417-1478           AC009229.6         189993-190054
            1479-1862           KF459611.1         1-384               c
            1863-5218           AC009229.6         190439-193794
FEATURES             Location/Qualifiers
     source          1..5218
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.2"
     gene            1..5218
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /note="cytochrome P450 family 1 subfamily B member 1"
                     /db_xref="GeneID:1545"
                     /db_xref="HGNC:HGNC:2597"
                     /db_xref="MIM:601771"
     exon            1..372
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      63..113
                     /regulatory_class="uORF"
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19908239]"
                     /note="regulatory uORF; this uORF is predicted to encode a
                     16 aa peptide (PMID:19908239)"
     regulatory      63..113
                     /regulatory_class="uORF"
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:19908239]"
                     /note="this uORF is predicted to encode a 16 aa peptide
                     (PMID:19908239)"
     exon            373..1416
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /inference="alignment:Splign:2.1.0"
     CDS             374..2005
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /EC_number="1.14.14.1"
                     /EC_number="4.2.1.152"
                     /note="microsomal monooxygenase; xenobiotic monooxygenase;
                     flavoprotein-linked monooxygenase; aryl hydrocarbon
                     hydroxylase; cytochrome P450, family 1, subfamily B,
                     polypeptide 1; cytochrome P450, subfamily I
                     (dioxin-inducible), polypeptide 1 (glaucoma 3, primary
                     infantile); dioxin-inducible cytochrome p450; hydroperoxy
                     icosatetraenoate dehydratase"
                     /codon_start=1
                     /product="cytochrome P450 1B1"
                     /protein_id="NP_000095.2"
                     /db_xref="CCDS:CCDS1793.1"
                     /db_xref="GeneID:1545"
                     /db_xref="HGNC:HGNC:2597"
                     /db_xref="MIM:601771"
                     /translation="MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRR
                     RQLRSAPPGPFAWPLIGNAAAVGQAAHLSFARLARRYGDVFQIRLGSCPIVVLNGERA
                     IHQALVQQGSAFADRPAFASFRVVSGGRSMAFGHYSEHWKVQRRAAHSMMRNFFTRQP
                     RSRQVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVAVANVMSAVCFGCRYSHDD
                     PEFRELLSHNEEFGRTVGAGSLVDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKF
                     LRHCESLRPGAAPRDMMDAFILSAEKKAAGDSHGGGARLDLENVPATITDIFGASQDT
                     LSTALQWLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFS
                     SFVPVTIPHATTANTSVLGYHIPKDTVVFVNQWSVNHDPLKWPNPENFDPARFLDKDG
                     LINKDLTSRVMIFSVGKRRCIGEELSKMQLFLFISILAHQCDFRANPNEPAKMNFSYG
                     LTIKPKSFKVNVTLRESMELLDSAVQNLQAKETCQ"
     exon            1417..5218
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5100..5105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /note="hexamer: AATAAA"
     polyA_site      5119
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /note="major polyA site"
     polyA_site      5149
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
     regulatory      5198..5203
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
                     /note="hexamer: ATTAAA"
     polyA_site      5218
                     /gene="CYP1B1"
                     /gene_synonym="ASGD6; CP1B; CYPIB1; GLC3A; P4501B1"
ORIGIN      
        1 gactctggag tgggagtggg agcgagcgct tctgcgactc cagttgtgag agccgcaagg
       61 gcatgggaat tgacgccact caccgacccc cagtctcaat ctcaacgctg tgaggaaacc
      121 tcgactttgc caggtcccca agggcagcgg ggctcggcga gcgaggcacc cttctccgtc
      181 cccatcccaa tccaagcgct cctggcactg acgacgccaa gagactcgag tgggagttaa
      241 agcttccagt gagggcagca ggtgtccagg ccgggcctgc gggttcctgt tgacgtcttg
      301 ccctaggcaa aggtcccagt tccttctcgg agccggctgt cccgcgccac tggaaaccgc
      361 acctccccgc agcatgggca ccagcctcag cccgaacgac ccttggccgc taaacccgct
      421 gtccatccag cagaccacgc tcctgctact cctgtcggtg ctggccactg tgcatgtggg
      481 ccagcggctg ctgaggcaac ggaggcggca gctccggtcc gcgcccccgg gcccgtttgc
      541 gtggccactg atcggaaacg cggcggcggt gggccaggcg gctcacctct cgttcgctcg
      601 cctggcgcgg cgctacggcg acgttttcca gatccgcctg ggcagctgcc ccatagtggt
      661 gctgaatggc gagcgcgcca tccaccaggc cctggtgcag cagggctcgg ccttcgccga
      721 ccggccggcc ttcgcctcct tccgtgtggt gtccggcggc cgcagcatgg ctttcggcca
      781 ctactcggag cactggaagg tgcagcggcg cgcagcccac agcatgatgc gcaacttctt
      841 cacgcgccag ccgcgcagcc gccaagtcct cgagggccac gtgctgagcg aggcgcgcga
      901 gctggtggcg ctgctggtgc gcggcagcgc ggacggcgcc ttcctcgacc cgaggccgct
      961 gaccgtcgtg gccgtggcca acgtcatgag tgccgtgtgt ttcggctgcc gctacagcca
     1021 cgacgacccc gagttccgtg agctgctcag ccacaacgaa gagttcgggc gcacggtggg
     1081 cgcgggcagc ctggtggacg tgatgccctg gctgcagtac ttccccaacc cggtgcgcac
     1141 cgttttccgc gaattcgagc agctcaaccg caacttcagc aacttcatcc tggacaagtt
     1201 cttgaggcac tgcgaaagcc ttcggcccgg ggccgccccc cgcgacatga tggacgcctt
     1261 tatcctctct gcggaaaaga aggcggccgg ggactcgcac ggtggtggcg cgcggctgga
     1321 tttggagaac gtaccggcca ctatcactga catcttcggc gccagccagg acaccctgtc
     1381 caccgcgctg cagtggctgc tcctcctctt caccaggtat cctgatgtgc agactcgagt
     1441 gcaggcagaa ttggatcagg tcgtggggag ggaccgtctg ccttgtatgg gtgaccagcc
     1501 caacctgccc tatgtcctgg ccttccttta tgaagccatg cgcttctcca gctttgtgcc
     1561 tgtcactatt cctcatgcca ccactgccaa cacctctgtc ttgggctacc acattcccaa
     1621 ggacactgtg gtttttgtca accagtggtc tgtgaatcat gacccactga agtggcctaa
     1681 cccggagaac tttgatccag ctcgattctt ggacaaggat ggcctcatca acaaggacct
     1741 gaccagcaga gtgatgattt tttcagtggg caaaaggcgg tgcattggcg aagaactttc
     1801 taagatgcag ctttttctct tcatctccat cctggctcac cagtgcgatt tcagggccaa
     1861 cccaaatgag cctgcgaaaa tgaatttcag ttatggtcta accattaaac ccaagtcatt
     1921 taaagtcaat gtcactctca gagagtccat ggagctcctt gatagtgctg tccaaaattt
     1981 acaagccaag gaaacttgcc aataagaagc aagaggcaag ctgaaatttt agaaatattc
     2041 acatcttcgg agatgaggag taaaattcag tttttttcca gttcctcttt tgtgctgctt
     2101 ctcaattagc gtttaaggtg agcataaatc aactgtccat caggtgaggt gtgctccata
     2161 cccagcggtt cttcatgagt agtgggctat gcaggagctt ctgggagatt tttttgagtc
     2221 aaagacttaa agggcccaat gaattattat atacatactg catcttggtt atttctgaag
     2281 gtagcattct ttggagttaa aatgcacata tagacacata cacccaaaca cttacaccaa
     2341 actactgaat gaagcagtat tttggtaacc aggccatttt tggtgggaat ccaagattgg
     2401 tctcccatat gcagaaatag acaaaaagta tattaaacaa agtttcagag tatattgttg
     2461 aagagacaga gacaagtaat ttcagtgtaa agtgtgtgat tgaaggtgat aagggaaaag
     2521 ataaagacca gaaattccct tttcaccttt tcaggaaaat aacttagact ctagtattta
     2581 tgggtggatt tatccttttg ccttctggta tacttcctta cttttaagga taaatcataa
     2641 agtcagttgc tcaaaaagaa atcaatagtt gaattagtga gtatagtggg gttccatgag
     2701 ttatcatgaa ttttaaagta tgcattatta aattgtaaaa ctccaaggtg atgttgtacc
     2761 tcttttgctt gccaaagtac agaatttgaa ttatcagcaa agaaaaaaaa aaaagccagc
     2821 caagctttaa attatgtgac cataatgtac tgatttcagt aagtctcata ggttaaaaaa
     2881 aaaagtcacc aaatagtgtg aaatatatta cttaactgtc cgtaagcagt atattagtat
     2941 tatcttgttc aggaaaaggt tgaataatat atgccttgta taatattgaa aattgaaaag
     3001 tacaactaac gcaaccaagt gtgctaaaaa tgagcttgat taaatcaacc acctattttt
     3061 gacatggaaa tgaagcaggg tttcttttct tcactcaaat tttggcgaat ctcaaaatta
     3121 gatcctaaga tgtgttctta tttttataac atctttattg aaattctatt tataatacag
     3181 aatcttgttt tgaaaataac ctaattaata tattaaaatt ccaaattcat ggcatgctta
     3241 aattttaact aaattttaaa gccattctga ttattgagtt ccagttgaag ttagtggaaa
     3301 tctgaacatt ctcctgtgga aggcagagaa atctaagctg tgtctgccca atgaataatg
     3361 gaaaatgcca tgaattacct ggatgttctt tttacgaggt gacaagagtt ggggacagaa
     3421 ctcccattac aactgaccaa gtttctcttc tagatgattt tttgaaagtt aacattaatg
     3481 cctgcttttt ggaaagtcag aatcagaaga tagtcttgga agctgtttgg aaaagacagt
     3541 ggagatgagg tcagttgtgt tttttaagat ggcaattact ttggtagctg ggaaagcata
     3601 aagctcaaat gaaatgtatg cattcacatt tagaaaagtg aattgaagtt tcaagtttta
     3661 aagttcattg caattaaact tccaaagaaa gttctacagt gtcctaagtg ctaagtgctt
     3721 attacatttt attaagcttt ttggaatctt tgtaccaaaa ttttaaaaaa gggagttttt
     3781 gatagttgtg tgtatgtgtg tgtggggtgg ggggatggta agagaaaaga gagaaacact
     3841 gaaaagaagg aaagatggtt aaacattttc ccactcattc tgaattaatt aatttggagc
     3901 acaaaattca aagcatggac atttagaaga aagatgtttg gcgtagcaga gttaaatctc
     3961 aaataggcta ttaaaaaagt ctacaacata gcagatctgt tttgtggttt ggaatattaa
     4021 aaaacttcat gtaattttat tttaaaattt catagctgta cttcttgaat ataaaaaatc
     4081 atgccagtat ttttaaaggc attagagtca actacacaaa gcaggcttgc ccagtacatt
     4141 taaatttttt ggcacttgcc attccaaaat attatgcccc accaaggctg agacagtgaa
     4201 tttgggctgc tgtagcctat ttttttagat tgagaaatgt gtagctgcaa aaataatcat
     4261 gaaccaatct ggatgcctca ttatgtcaac caggtccaga tgtgctataa tctgttttta
     4321 cgtatgtagg cccagtcgtc atcagatgct tgcggcaaaa ggaaagctgt gtttatatgg
     4381 aagaaagtaa ggtgcttgga gtttacctgg cttatttaat atgcttataa cctagttaaa
     4441 gaaaggaaaa gaaaacaaaa aacgaatgaa aataactgaa tttggaggct ggagtaatca
     4501 gattactgct ttaatcagaa accctcattg tgtttctacc ggagagagaa tgtatttgct
     4561 gacaaccatt aaagtcagaa gttttactcc aggttattgc aataaagtat aatgtttatt
     4621 aaatgcttca tttgtatgtc aaagctttga ctctataagc aaattgcttt tttccaaaac
     4681 aaaaagatgt ctcaggtttg ttttgtgaat tttctaaaag ctttcatgtc ccagaactta
     4741 gcctttacct gtgaagtgtt actacagcct taatattttc ctagtagatc tatattagat
     4801 caaatagttg catagcagta tatgttaatt tgtgtgtttt tagctgtgac acaactgtgt
     4861 gattaaaagg tatactttag tagacattta taactcaagg ataccttctt atttaatctt
     4921 ttcttatttt tgtactttat catgaatgct tttagtgtgt gcataatagc tacagtgcat
     4981 agttgtagac aaagtacatt ctggggaaac aacatttata tgtagccttt actgtttgat
     5041 ataccaaatt aaaaaaaaat tgtatctcat tacttatact gggacaccat taccaaaata
     5101 ataaaaatca ctttcataat cttgttatga agttttatgt tgtagcaaat atagtctaat
     5161 gtatcacttt atttcaacta ttactatgga ttattcaatt aaaatattgc actgtaaa
//
