LOCUS       NM_000773               1674 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily E member 1
            (CYP2E1), mRNA.
ACCESSION   NM_000773
VERSION     NM_000773.4
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 1674)
  AUTHORS   Ijaz,M., Chen,C.C., Iqbal,R.K., Farooq,H.A., Mehmood,R., Asif,M.,
            Akbar,A., Khan,A., Ijaz,W., Said,M.B., Wondmie,G.F., Ibenmoussa,S.,
            Okla,M.K. and Iqbal,F.
  TITLE     Genetic polymorphisms in FABP2, CYP2E1, and TP53 genes are
            potentially associated with colorectal cancer susceptibility
  JOURNAL   Sci Rep 14 (1), 20464 (2024)
   PUBMED   39242607
  REMARK    GeneRIF: Genetic polymorphisms in FABP2, CYP2E1, and TP53 genes are
            potentially associated with colorectal cancer susceptibility.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1674)
  AUTHORS   Datkhile,K.D., More,A.L., Patil,M.N., Gudur,R.A. and Gudur,A.K.
  TITLE     CYP2D6, CYP2E1 Gene Polymorphisms and Gastrointestinal Cancer Risk
            in Rural Maharashtra: A Hospital Based Case-Control Study
  JOURNAL   Asian Pac J Cancer Prev 25 (9), 3059-3065 (2024)
   PUBMED   39342583
  REMARK    GeneRIF: CYP2D6, CYP2E1 Gene Polymorphisms and Gastrointestinal
            Cancer Risk in Rural Maharashtra: A Hospital Based Case-Control
            Study.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1674)
  AUTHORS   Husseini,A.A.
  TITLE     Genotypic variation in CYP2E1, GCKR, and PNPLA3 among nonalcoholic
            steatohepatitis patients of Turkish origin
  JOURNAL   Mol Biol Rep 51 (1), 845 (2024)
   PUBMED   39042259
  REMARK    GeneRIF: Genotypic variation in CYP2E1, GCKR, and PNPLA3 among
            nonalcoholic steatohepatitis patients of Turkish origin.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1674)
  AUTHORS   Jung,Y.S., Radhakrishnan,K., Hammad,S., Muller,S., Muller,J.,
            Noh,J.R., Kim,J., Lee,I.K., Cho,S.J., Kim,D.K., Kim,Y.H., Lee,C.H.,
            Dooley,S. and Choi,H.S.
  TITLE     ERRgamma-inducible FGF23 promotes alcoholic liver injury through
            enhancing CYP2E1 mediated hepatic oxidative stress
  JOURNAL   Redox Biol 71, 103107 (2024)
   PUBMED   38479224
  REMARK    GeneRIF: ERRgamma-inducible FGF23 promotes alcoholic liver injury
            through enhancing CYP2E1 mediated hepatic oxidative stress.
REFERENCE   5  (bases 1 to 1674)
  AUTHORS   Wei,D., Tian,X., Zhu,L., Wang,H. and Sun,C.
  TITLE     USP14 governs CYP2E1 to promote nonalcoholic fatty liver disease
            through deubiquitination and stabilization of HSP90AA1
  JOURNAL   Cell Death Dis 14 (8), 566 (2023)
   PUBMED   37633951
  REMARK    GeneRIF: USP14 governs CYP2E1 to promote nonalcoholic fatty liver
            disease through deubiquitination and stabilization of HSP90AA1.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1674)
  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 1674)
  AUTHORS   Uematsu,F., Kikuchi,H., Abe,T., Motomiya,M., Ohmachi,T., Sagami,I.
            and Watanabe,M.
  TITLE     MspI polymorphism of the human CYP2E gene
  JOURNAL   Nucleic Acids Res 19 (20), 5797 (1991)
   PUBMED   1719479
REFERENCE   8  (bases 1 to 1674)
  AUTHORS   Hayashi,S., Watanabe,J. and Kawajiri,K.
  TITLE     Genetic polymorphisms in the 5'-flanking region change
            transcriptional regulation of the human cytochrome P450IIE1 gene
  JOURNAL   J Biochem 110 (4), 559-565 (1991)
   PUBMED   1778977
REFERENCE   9  (bases 1 to 1674)
  AUTHORS   Robinson,R.C., Shorr,R.G., Varrichio,A., Park,S.S., Gelboin,H.V.,
            Miller,H. and Friedman,F.K.
  TITLE     Human liver cytochrome P-450 related to a rat acetone-inducible,
            nitrosamine-metabolizing cytochrome P-450: identification and
            isolation
  JOURNAL   Pharmacology 39 (3), 137-144 (1989)
   PUBMED   2587619
REFERENCE   10 (bases 1 to 1674)
  AUTHORS   Umeno,M., McBride,O.W., Yang,C.S., Gelboin,H.V. and Gonzalez,F.J.
  TITLE     Human ethanol-inducible P450IIE1: complete gene sequence, promoter
            characterization, chromosome mapping, and cDNA-directed expression
  JOURNAL   Biochemistry 27 (25), 9006-9013 (1988)
   PUBMED   3233219
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX951478.1, J02625.1 and
            AL161645.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000773.3.
            
            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.
            This protein localizes to the endoplasmic reticulum and is induced
            by ethanol, the diabetic state, and starvation. The enzyme
            metabolizes both endogenous substrates, such as ethanol, acetone,
            and acetal, as well as exogenous substrates including benzene,
            carbon tetrachloride, ethylene glycol, and nitrosamines which are
            premutagens found in cigarette smoke. Due to its many substrates,
            this enzyme may be involved in such varied processes as
            gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [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 :: SRR5189664.139659.1,
                                           SRR5189664.122132.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252945.8/ ENSP00000252945.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-210               BX951478.1         2-211
            211-1645            J02625.1           190-1624
            1646-1667           AL161645.14        123736-123757
            1668-1674           AL161645.14        123758-123764
FEATURES             Location/Qualifiers
     source          1..1674
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.3"
     gene            1..1674
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /note="cytochrome P450 family 2 subfamily E member 1"
                     /db_xref="GeneID:1571"
                     /db_xref="HGNC:HGNC:2631"
                     /db_xref="MIM:124040"
     exon            1..210
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..1515
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /EC_number="1.14.14.1"
                     /EC_number="1.14.13.n7"
                     /note="microsomal monooxygenase; xenobiotic monooxygenase;
                     flavoprotein-linked monooxygenase; cytochrome P450,
                     subfamily IIE (ethanol-inducible), polypeptide 1; CYPIIE1;
                     cytochrome P450-J; 4-nitrophenol 2-hydroxylase; cytochrome
                     P450, family 2, subfamily E, polypeptide 1"
                     /codon_start=1
                     /product="cytochrome P450 2E1"
                     /protein_id="NP_000764.1"
                     /db_xref="CCDS:CCDS7686.1"
                     /db_xref="GeneID:1571"
                     /db_xref="HGNC:HGNC:2631"
                     /db_xref="MIM:124040"
                     /translation="MSALGVTVALLVWAAFLLLVSMWRQVHSSWNLPPGPFPLPIIGN
                     LFQLELKNIPKSFTRLAQRFGPVFTLYVGSQRMVVMHGYKAVKEALLDYKDEFSGRGD
                     LPAFHAHRDRGIIFNNGPTWKDIRRFSLTTLRNYGMGKQGNESRIQREAHFLLEALRK
                     TQGQPFDPTFLIGCAPCNVIADILFRKHFDYNDEKFLRLMYLFNENFHLLSTPWLQLY
                     NNFPSFLHYLPGSHRKVIKNVAEVKEYVSERVKEHHQSLDPNCPRDLTDCLLVEMEKE
                     KHSAERLYTMDGITVTVADLFFAGTETTSTTLRYGLLILMKYPEIEEKLHEEIDRVIG
                     PSRIPAIKDRQEMPYMDAVVHEIQRFITLVPSNLPHEATRDTIFRGYLIPKGTVVVPT
                     LDSVLYDNQEFPDPEKFKPEHFLNENGKFKYSDYFKPFSTGKRVCAGEGLARMELFLL
                     LCAILQHFNLKPLVDPKDIDLSPIHIGFGCIPPRYKLCVIPRS"
     exon            211..370
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /inference="alignment:Splign:2.1.0"
     exon            371..520
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /inference="alignment:Splign:2.1.0"
     exon            521..681
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /inference="alignment:Splign:2.1.0"
     exon            682..858
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /inference="alignment:Splign:2.1.0"
     exon            859..1000
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1188
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1330
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /inference="alignment:Splign:2.1.0"
     exon            1331..1674
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1636
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
     regulatory      1644..1649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /note="hexamer: AATAAA"
     polyA_site      1645
                     /gene="CYP2E1"
                     /gene_synonym="CPE1; CYP2E; P450-J; P450C2E"
                     /note="major polyA site"
ORIGIN      
        1 ctcccgggct ggcagcaggg ccccagcggc accatgtctg ccctcggagt caccgtggcc
       61 ctgctggtgt gggcggcctt cctcctgctg gtgtccatgt ggaggcaggt gcacagcagc
      121 tggaatctgc ccccaggccc tttcccgctt cccatcatcg ggaacctctt ccagttggaa
      181 ttgaagaata ttcccaagtc cttcacccgg ttggcccagc gcttcgggcc ggtgttcacg
      241 ctgtacgtgg gctcgcagcg catggtggtg atgcacggct acaaggcggt gaaggaagcg
      301 ctgctggact acaaggacga gttctcgggc agaggcgacc tccccgcgtt ccatgcgcac
      361 agggacaggg gaatcatttt taataatgga cctacctgga aggacatccg gcggttttcc
      421 ctgaccaccc tccggaacta tgggatgggg aaacagggca atgagagccg gatccagagg
      481 gaggcccact tcctgctgga agcactcagg aagacccaag gccagccttt cgaccccacc
      541 ttcctcatcg gctgcgcgcc ctgcaacgtc atagccgaca tcctcttccg caagcatttt
      601 gactacaatg atgagaagtt tctaaggctg atgtatttgt ttaatgagaa cttccaccta
      661 ctcagcactc cctggctcca gctttacaat aattttccca gctttctaca ctacttgcct
      721 ggaagccaca gaaaagtcat aaaaaatgtg gctgaagtaa aagagtatgt gtctgaaagg
      781 gtgaaggagc accatcaatc tctggacccc aactgtcccc gggacctcac cgactgcctg
      841 ctcgtggaaa tggagaagga aaagcacagt gcagagcgct tgtacacaat ggacggtatc
      901 accgtgactg tggccgacct gttctttgcg gggacagaga ccaccagcac aactctgaga
      961 tatgggctcc tgattctcat gaaataccct gagatcgaag agaagctcca tgaagaaatt
     1021 gacagggtga ttgggccaag ccgaatccct gccatcaagg ataggcaaga gatgccctac
     1081 atggatgctg tggtgcatga gattcagcgg ttcatcaccc tcgtgccctc caacctgccc
     1141 catgaagcaa cccgagacac cattttcaga ggatacctca tccccaaggg cacagtcgta
     1201 gtgccaactc tggactctgt tttgtatgac aaccaagaat ttcctgatcc agaaaagttt
     1261 aagccagaac acttcctgaa tgaaaatgga aagttcaagt acagtgacta tttcaagcca
     1321 ttttccacag gaaaacgagt gtgtgctgga gaaggcctgg ctcgcatgga gttgtttctt
     1381 ttgttgtgtg ccattttgca gcattttaat ttgaagcctc tcgttgaccc aaaggatatc
     1441 gacctcagcc ctatacatat tgggtttggc tgtatcccac cacgttacaa actctgtgtc
     1501 attccccgct catgagtgtg tggaggacac cctgaacccc ccgctttcaa acaagttttc
     1561 aaattgtttg aggtcaggat ttctcaaact gattcctttc tttgcatatg agtatttgaa
     1621 aataaatatt ttcccagaat ataaataaat catcacatga ttattttaac tata
//
