LOCUS       NM_001136018            1635 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens epoxide hydrolase 1 (EPHX1), transcript variant 2,
            mRNA.
ACCESSION   NM_001136018
VERSION     NM_001136018.4
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 1635)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1635)
  AUTHORS   Lim,S.H., Snider,J., Birimberg-Schwartz,L., Ip,W., Serralha,J.C.,
            Botelho,H.M., Lopes-Pacheco,M., Pinto,M.C., Moutaoufik,M.T.,
            Zilocchi,M., Laselva,O., Esmaeili,M., Kotlyar,M., Lyakisheva,A.,
            Tang,P., Lopez Vazquez,L., Akula,I., Aboualizadeh,F., Wong,V.,
            Grozavu,I., Opacak-Bernardi,T., Yao,Z., Mendoza,M., Babu,M.,
            Jurisica,I., Gonska,T., Bear,C.E., Amaral,M.D. and Stagljar,I.
  TITLE     CFTR interactome mapping using the mammalian membrane two-hybrid
            high-throughput screening system
  JOURNAL   Mol Syst Biol 18 (2), e10629 (2022)
   PUBMED   35156780
REFERENCE   3  (bases 1 to 1635)
  AUTHORS   Antonova,I., Gridnyev,O. and Galchinskaya,V.
  TITLE     EPOXID HYDROLASE SINGLE GENE POLYMORPHISM (RS1051740) AND SEVERITY
            OF CHRONIC OBSTRUCTIVE DISEASE
  JOURNAL   Wiad Lek 75 (11 pt 2), 2779-2784 (2022)
   PUBMED   36591768
  REMARK    GeneRIF: EPOXID HYDROLASE SINGLE GENE POLYMORPHISM (RS1051740) AND
            SEVERITY OF CHRONIC OBSTRUCTIVE DISEASE.
REFERENCE   4  (bases 1 to 1635)
  AUTHORS   Zhang,M.L., Chen,X.L., Bai,Z.F., Zhao,X., Li,W.X., Wang,X.Y.,
            Zhang,H., Chen,X.F., Zhang,S.Q., Tang,J.F., Xiao,X.H. and Zhao,Y.L.
  TITLE     ABCB1 c.3435C > T and EPHX1 c.416A > G polymorphisms influence
            plasma carbamazepine concentration, metabolism, and
            pharmacoresistance in epileptic patients
  JOURNAL   Gene 805, 145907 (2021)
   PUBMED   34411648
  REMARK    GeneRIF: ABCB1 c.3435C > T and EPHX1 c.416A > G polymorphisms
            influence plasma carbamazepine concentration, metabolism, and
            pharmacoresistance in epileptic patients.
            Review article
REFERENCE   5  (bases 1 to 1635)
  AUTHORS   Walia,H.K., Singh,N. and Sharma,S.
  TITLE     Genetic polymorphisms in the mEH gene in relation to tobacco
            smoking: role in lung cancer susceptibility and survival in north
            Indian patients with lung cancer undergoing platinum-based
            chemotherapy
  JOURNAL   Future Oncol 17 (35), 4925-4946 (2021)
   PUBMED   34672683
  REMARK    GeneRIF: Genetic polymorphisms in the mEH gene in relation to
            tobacco smoking: role in lung cancer susceptibility and survival in
            north Indian patients with lung cancer undergoing platinum-based
            chemotherapy.
REFERENCE   6  (bases 1 to 1635)
  AUTHORS   Nguyen,H.L., Yang,X. and Omiecinski,C.J.
  TITLE     Expression of a novel mRNA transcript for human microsomal epoxide
            hydrolase (EPHX1) is regulated by short open reading frames within
            its 5'-untranslated region
  JOURNAL   RNA 19 (6), 752-766 (2013)
   PUBMED   23564882
  REMARK    GeneRIF: EPHX1 transcript, termed E1-b', drives EPHX1 expression
            primarily in the ovary.
REFERENCE   7  (bases 1 to 1635)
  AUTHORS   Wilson,N.M. and Omiecinski,C.J.
  TITLE     Xenobiotic microsomal epoxide hydrolase: 5' sequence of the human
            gene
  JOURNAL   Biochim Biophys Acta 1008 (3), 357-358 (1989)
   PUBMED   2758034
REFERENCE   8  (bases 1 to 1635)
  AUTHORS   Skoda,R.C., Demierre,A., McBride,O.W., Gonzalez,F.J. and Meyer,U.A.
  TITLE     Human microsomal xenobiotic epoxide hydrolase. Complementary DNA
            sequence, complementary DNA-directed expression in COS-1 cells, and
            chromosomal localization
  JOURNAL   J Biol Chem 263 (3), 1549-1554 (1988)
   PUBMED   2891713
REFERENCE   9  (bases 1 to 1635)
  AUTHORS   Jackson,M.R., Craft,J.A. and Burchell,B.
  TITLE     Nucleotide and deduced amino acid sequence of human liver
            microsomal epoxide hydrolase
  JOURNAL   Nucleic Acids Res 15 (17), 7188 (1987)
   PUBMED   3502697
REFERENCE   10 (bases 1 to 1635)
  AUTHORS   Strickler,S.M., Dansky,L.V., Miller,M.A., Seni,M.H., Andermann,E.
            and Spielberg,S.P.
  TITLE     Genetic predisposition to phenytoin-induced birth defects
  JOURNAL   Lancet 2 (8458), 746-749 (1985)
   PUBMED   2864485
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099066.3 and AL591895.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 12, 2020 this sequence version replaced NM_001136018.3.
            
            Summary: Epoxide hydrolase is a critical biotransformation enzyme
            that converts epoxides from the degradation of aromatic compounds
            to trans-dihydrodiols which can be conjugated and excreted from the
            body. Epoxide hydrolase functions in both the activation and
            detoxification of epoxides. Mutations in this gene cause
            preeclampsia, epoxide hydrolase deficiency or increased epoxide
            hydrolase activity. Alternatively spliced transcript variants
            encoding the same protein have been found for this gene.[provided
            by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (2) has an alternate upstream 5'
            UTR exon, as compared to variant 1. Variants 1-5 all encode the
            longest isoform (a).
            
            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 :: BC095430.1, AK313436.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272167.10/ ENSP00000272167.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-46                AC099066.3         142749-142794
            47-234              AL591895.9         13800-13987
            235-415             AL591895.9         16854-17034
            416-643             AL591895.9         23729-23956
            644-773             AL591895.9         24292-24421
            774-982             AL591895.9         24904-25112
            983-1091            AL591895.9         27441-27549
            1092-1217           AL591895.9         29573-29698
            1218-1635           AL591895.9         30221-30638
FEATURES             Location/Qualifiers
     source          1..1635
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.12"
     gene            1..1635
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /note="epoxide hydrolase 1"
                     /db_xref="GeneID:2052"
                     /db_xref="HGNC:HGNC:3401"
                     /db_xref="MIM:132810"
     exon            1..46
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /inference="alignment:Splign:2.1.0"
     exon            47..234
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /inference="alignment:Splign:2.1.0"
     CDS             52..1419
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /EC_number="3.3.2.9"
                     /note="isoform a is encoded by transcript variant 2;
                     epoxide hydratase; epoxide hydrolase 1 microsomal; epoxide
                     hydrolase 1, microsomal (xenobiotic)"
                     /codon_start=1
                     /product="epoxide hydrolase 1 isoform a"
                     /protein_id="NP_001129490.1"
                     /db_xref="CCDS:CCDS1547.1"
                     /db_xref="GeneID:2052"
                     /db_xref="HGNC:HGNC:3401"
                     /db_xref="MIM:132810"
                     /translation="MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAARE
                     DDSIRPFKVETSDEEIHDLHQRIDKFRFTPPLEDSCFHYGFNSNYLKKVISYWRNEFD
                     WKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKI
                     IPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQ
                     EFYIQGGDWGSLICTNMAQLVPSHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTE
                     RDVELLYPVKEKVFYSLMRESGYMHIQCTKPDTVGSALNDSPVGLAAYILEKFSTWTN
                     TEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYKENLGQGWMTQKHERMKV
                     YVPTGFSAFPFELLHTPEKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLS
                     VLERQ"
     exon            235..415
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /inference="alignment:Splign:2.1.0"
     exon            416..643
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /inference="alignment:Splign:2.1.0"
     exon            644..773
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /inference="alignment:Splign:2.1.0"
     exon            774..982
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1091
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1217
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1635
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1614..1619
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /note="hexamer: GATAAA"
     polyA_site      1635
                     /gene="EPHX1"
                     /gene_synonym="EPHX; EPOX; HYL1; MEH"
                     /note="major polyA site"
ORIGIN      
        1 ggagagatcg cgcgcctgcc gccgccggag cctgcgagcc gagaccgagc catgtggcta
       61 gaaatcctcc tcacttcagt gctgggcttt gccatctact ggttcatctc ccgggacaaa
      121 gaggaaactt tgccacttga agatgggtgg tgggggccag gcacgaggtc cgcagccagg
      181 gaggacgaca gcatccgccc tttcaaggtg gaaacgtcag atgaggagat ccacgactta
      241 caccagagga tcgataagtt ccgtttcacc ccacctttgg aggacagctg cttccactat
      301 ggcttcaact ccaactacct gaagaaagtc atctcctact ggcggaatga atttgactgg
      361 aagaagcagg tggagattct caacagatac cctcacttca agactaagat tgaagggctg
      421 gacatccact tcatccacgt gaagcccccc cagctgcccg caggccatac cccgaagccc
      481 ttgctgatgg tgcacggctg gcccggctct ttctacgagt tttataagat catcccactc
      541 ctgactgacc ccaagaacca tggcctgagc gatgagcacg tttttgaagt catctgccct
      601 tccatccctg gctatggctt ctcagaggca tcctccaaga aggggttcaa ctcggtggcc
      661 accgccagga tcttttacaa gctgatgctg cggctgggct tccaggaatt ctacattcaa
      721 ggaggggact gggggtccct gatctgcact aatatggccc agctggtgcc cagccacgtg
      781 aaaggcctgc acttgaacat ggctttggtt ttaagcaact tctctaccct gaccctcctc
      841 ctgggacagc gtttcgggag gtttcttggc ctcactgaga gggatgtgga gctgctgtac
      901 cccgtcaagg agaaggtatt ctacagcctg atgagggaga gcggctacat gcacatccag
      961 tgcaccaagc ctgacaccgt aggctctgct ctgaatgact ctcctgtggg tctggctgcc
     1021 tatattctag agaagttttc cacctggacc aatacggaat tccgatacct ggaggatgga
     1081 ggcctggaaa ggaagttctc cctggacgac ctgctgacca acgtcatgct ctactggaca
     1141 acaggcacca tcatctcctc ccagcgcttc tacaaggaga acctgggaca gggctggatg
     1201 acccagaagc atgagcggat gaaggtctat gtgcccactg gcttctctgc cttccctttt
     1261 gagctattgc acacgcctga aaagtgggtg aggttcaagt acccaaagct catctcctat
     1321 tcctacatgg ttcgtggggg ccactttgcg gcctttgagg agccggagct gctcgcccag
     1381 gacatccgca agttcctgtc ggtgctggag cggcaatgac ccacccctct ccccccgcct
     1441 gccacctccc cccacaagtg ccctccaggc ttttcttggg gaagataccc cttttctgag
     1501 gaatgagttt gcctccgtcc cctgcccatg ctgggagccc acgctcaccc cctcacccct
     1561 ccaagctcac tccccaaccc ccaactccgt gtggtaagca acatggcttt gatgataaac
     1621 gactttactc taaaa
//
