2024-03-29 19:08:47, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001198854 1799 bp mRNA linear PRI 01-JUL-2013 DEFINITION Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 3, mRNA. ACCESSION NM_001198854 VERSION NM_001198854.1 GI:311893310 KEYWORDS RefSeq. 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 1799) AUTHORS Wu,X., Zuo,J., Guo,T. and Yuan,L. TITLE CYP2C8 polymorphism frequencies among Han, Uighur, Hui, and Mongolian Chinese populations JOURNAL Genet Test Mol Biomarkers 17 (2), 104-108 (2013) PUBMED 23336573 REMARK GeneRIF: The study described polymorphisms of CYP2C8 in Chinese minorities for the first time, showing significant ethnic differences in the distribution of CYP2C8 among the Han, the Uighur, Hui, and Mongolian Chinese populations. REFERENCE 2 (bases 1 to 1799) AUTHORS Zhong,D.N., Wu,J.Z. and Li,G.J. TITLE Association between CYP2C8 (rs1934951) polymorphism and bisphosphonate-related osteonecrosis of the jaws in patients on bisphosphonate therapy: a meta-analysis JOURNAL Acta Haematol. 129 (2), 90-95 (2013) PUBMED 23171856 REMARK GeneRIF: The results indicated that AA and AG genotypes of CYP2C8 (rs1934951) might be predictors for multiple myeloma patients at high risk to develop bisphosphonate-related oxteonecrosis of the jaw. REFERENCE 3 (bases 1 to 1799) AUTHORS Reynald,R.L., Sansen,S., Stout,C.D. and Johnson,E.F. TITLE Structural characterization of human cytochrome P450 2C19: active site differences between P450s 2C8, 2C9, and 2C19 JOURNAL J. Biol. Chem. 287 (53), 44581-44591 (2012) PUBMED 23118231 REMARK GeneRIF: The substrate-binding cavity of P450 2C8 is much larger than that of P450 2C19 and P450 2C9. REFERENCE 4 (bases 1 to 1799) AUTHORS Zhang,S.Y., Surapureddi,S., Coulter,S., Ferguson,S.S. and Goldstein,J.A. TITLE Human CYP2C8 is post-transcriptionally regulated by microRNAs 103 and 107 in human liver JOURNAL Mol. Pharmacol. 82 (3), 529-540 (2012) PUBMED 22723340 REMARK GeneRIF: The translation efficiency (protein/mRNA ratio) for CYP2C8 was inversely correlated with the expression of miR-103 and miR-107. REFERENCE 5 (bases 1 to 1799) AUTHORS Ovsyannikova,I.G., Kennedy,R.B., O'Byrne,M., Jacobson,R.M., Pankratz,V.S. and Poland,G.A. TITLE Genome-wide association study of antibody response to smallpox vaccine JOURNAL Vaccine 30 (28), 4182-4189 (2012) PUBMED 22542470 REFERENCE 6 (bases 1 to 1799) 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 1799) AUTHORS Romkes,M., Faletto,M.B., Blaisdell,J.A., Raucy,J.L. and Goldstein,J.A. TITLE Cloning and expression of complementary DNAs for multiple members of the human cytochrome P450IIC subfamily JOURNAL Biochemistry 30 (13), 3247-3255 (1991) PUBMED 2009263 REMARK Erratum:[Biochemistry. 1993 Feb 9;32(5):1390. PMID: 8095407] REFERENCE 8 (bases 1 to 1799) AUTHORS Ged,C. and Beaune,P. TITLE Isolation of the human cytochrome P-450 IIC8 gene: multiple glucocorticoid responsive elements in the 5' region JOURNAL Biochim. Biophys. Acta 1088 (3), 433-435 (1991) PUBMED 1707679 REFERENCE 9 (bases 1 to 1799) AUTHORS Kolyada,A.Y. TITLE Sequence of a human liver cytochrome P-450 cDNA clone JOURNAL Nucleic Acids Res. 18 (18), 5550 (1990) PUBMED 2216732 REFERENCE 10 (bases 1 to 1799) AUTHORS Shephard,E.A., Phillips,I.R., Santisteban,I., Palmer,C.N. and Povey,S. TITLE Cloning, expression and chromosomal localization of a member of the human cytochrome P450IIC gene sub-family JOURNAL Ann. Hum. Genet. 53 (PT 1), 23-31 (1989) PUBMED 2729895 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK293327.1, AK293328.1 and M21941.1. 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 its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to 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 :: AK293328.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-157 AK293327.1 1-157 158-1466 AK293328.1 158-1466 1467-1799 M21941.1 1467-1799 FEATURES Location/Qualifiers source 1..1799 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10q23.33" gene 1..1799 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /note="cytochrome P450, family 2, subfamily C, polypeptide 8" /db_xref="GeneID:1558" /db_xref="HGNC:2622" /db_xref="MIM:601129" exon 1..301 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /inference="alignment:Splign:1.39.8" variation 10 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="a" /replace="c" /db_xref="dbSNP:11572066" misc_feature 265..267 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /note="upstream in-frame stop codon" CDS 277..1443 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /EC_number="1.14.14.1" /note="isoform c is encoded by transcript variant 3; microsomal monooxygenase; xenobiotic monooxygenase; flavoprotein-linked monooxygenase; P450 form 1; cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8; cytochrome P450 2C8; s-mephenytoin 4-hydroxylase; cytochrome P450 IIC2; cytochrome P450 MP-12; cytochrome P450 MP-20; cytochrome P450 form 1" /codon_start=1 /product="cytochrome P450 2C8 isoform c" /protein_id="NP_001185783.1" /db_xref="GI:311893311" /db_xref="CCDS:CCDS55721.1" /db_xref="GeneID:1558" /db_xref="HGNC:2622" /db_xref="MIM:601129" /translation="
MFLQPIAKGIISSNGKRWKEIRRFSLTTLRNFGMGKRSIEDRVQEEAHCLVEELRKTKASPCDPTFILGCAPCNVICSVVFQKRFDYKDQNFLTLMKRFNENFRILNSPWIQVCNNFPLLIDCFPGTHNKVLKNVALTRSYIREKVKEHQASLDVNNPRDFIDCFLIKMEQEKDNQKSEFNIENLVGTVADLFVAGTETTSTTLRYGLLLLLKHPEVTAKVQEEIDHVIGRHRSPCMQDRSHMPYTDAVVHEIQRYSDLVPTGVPHAVTTDTKFRNYLIPKGTTIMALLTSVLHDDKEFPNPNIFDPGHFLDKNGNFKKSDYFMPFSAGKRICAGEGLARMELFLFLTTILQNFNLKSVDDLKNLNTTAVTKGIVSLPPSYQICFIPV
" misc_feature 289..1431 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /note="Cytochrome P450; Region: p450; pfam00067" /db_xref="CDD:200971" misc_feature <301..1428 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /note="Cytochrome P450 [Secondary metabolites biosynthesis, transport, and catabolism]; Region: CypX; cl12078" /db_xref="CDD:212625" misc_feature 1273..1275 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /note="heme binding site" exon 302..451 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /inference="alignment:Splign:1.39.8" variation 386 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="a" /replace="g" /db_xref="dbSNP:11572080" variation 445 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="" /replace="a" /db_xref="dbSNP:72558196" variation 450 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="a" /replace="g" /db_xref="dbSNP:11572081" exon 452..612 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /inference="alignment:Splign:1.39.8" exon 613..789 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /inference="alignment:Splign:1.39.8" variation 700 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="a" /replace="g" /db_xref="dbSNP:11572102" variation 762 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="c" /replace="g" /db_xref="dbSNP:1058930" variation 775 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="a" /replace="t" /db_xref="dbSNP:11572103" exon 790..931 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /inference="alignment:Splign:1.39.8" variation 927 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="c" /replace="g" /db_xref="dbSNP:1141675" exon 932..1119 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /inference="alignment:Splign:1.39.8" variation 1029 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="c" /replace="t" /db_xref="dbSNP:11188150" exon 1120..1261 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /inference="alignment:Splign:1.39.8" variation 1180 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="c" /replace="g" /db_xref="dbSNP:66501115" exon 1262..1799 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /inference="alignment:Splign:1.39.8" variation 1352..1354 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="" /replace="ttg" /db_xref="dbSNP:3832694" STS 1433..1609 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /standard_name="RH69099" /db_xref="UniSTS:66683" variation 1467 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="c" /replace="t" /db_xref="dbSNP:1058932" variation 1532 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /replace="c" /replace="t" /db_xref="dbSNP:28399518" STS 1563..1727 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" /standard_name="RH79997" /db_xref="UniSTS:85675" polyA_signal 1771..1776 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" polyA_site 1793 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" polyA_site 1799 /gene="CYP2C8" /gene_synonym="CPC8; CYPIIC8; MP-12/MP-20" ORIGIN
acatgtcaaagagacacacactaaattagcagggagtgttataaaaactttggagtgcaagctcacagctgtcttaataagaagagaaggcttcaatggaaccttttgtggtcctggtgctgtgtctctcttttatgcttctcttttcactctggagacagagctgtaggagaaggaagctccctcctggccccactcctcttcctattattggaaatatgctacagatagatgttaaggacatctgcaaatctttcaccaatgtaagtctgccttatgttcctccagccaattgcaaagggaatcatttccagcaatggaaagagatggaaggagatccggcgtttctccctcacaaccttgcggaattttgggatggggaagaggagcattgaggaccgtgttcaagaggaagctcactgccttgtggaggagttgagaaaaaccaaggcttcaccctgtgatcccactttcatcctgggctgtgctccctgcaatgtgatctgctccgttgttttccagaaacgatttgattataaagatcagaattttctcaccctgatgaaaagattcaatgaaaacttcaggattctgaactccccatggatccaggtctgcaataatttccctctactcattgattgtttcccaggaactcacaacaaagtgcttaaaaatgttgctcttacacgaagttacattagggagaaagtaaaagaacaccaagcatcactggatgttaacaatcctcgggactttatcgattgcttcctgatcaaaatggagcaggaaaaggacaaccaaaagtcagaattcaatattgaaaacttggttggcactgtagctgatctatttgttgctggaacagagacaacaagcaccactctgagatatggactcctgctcctgctgaagcacccagaggtcacagctaaagtccaggaagagattgatcatgtaattggcagacacaggagcccctgcatgcaggataggagccacatgccttacactgatgctgtagtgcacgagatccagagatacagtgaccttgtccccaccggtgtgccccatgcagtgaccactgatactaagttcagaaactacctcatccccaagggcacaaccataatggcattactgacttccgtgctacatgatgacaaagaatttcctaatccaaatatctttgaccctggccactttctagataagaatggcaactttaagaaaagtgactacttcatgcctttctcagcaggaaaacgaatttgtgcaggagaaggacttgcccgcatggagctatttttatttctaaccacaattttacagaactttaacctgaaatctgttgatgatttaaagaacctcaatactactgcagttaccaaagggattgtttctctgccaccctcataccagatctgcttcatccctgtctgaagaatgctagcccatctggctgccgatctgctatcacctgcaactctttttttatcaaggacattcccactattatgtcttctctgacctctcatcaaatcttcccattcactcaatatcccataagcatccaaactccattaaggagagttgttcaggtcactgcacaaatatatctgcaattattcatactctgtaacacttgtattaattgctgcatatgctaatacttttctaatgctgactttttaatatgttatcactgtaaaacacagaaaagtgattaatgaatgataatttagatccatttcttttgtgaatgtgctaaataaaaagtgttattaattgctggttca
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:1558 -> Molecular function: GO:0004497 [monooxygenase activity] evidence: IDA GeneID:1558 -> Molecular function: GO:0005506 [iron ion binding] evidence: IEA GeneID:1558 -> Molecular function: GO:0009055 [electron carrier activity] evidence: IEA GeneID:1558 -> Molecular function: GO:0020037 [heme binding] evidence: IEA GeneID:1558 -> Molecular function: GO:0034875 [caffeine oxidase activity] evidence: IDA GeneID:1558 -> Molecular function: GO:0070330 [aromatase activity] evidence: IEA GeneID:1558 -> Biological process: GO:0006082 [organic acid metabolic process] evidence: IDA GeneID:1558 -> Biological process: GO:0006805 [xenobiotic metabolic process] evidence: TAS GeneID:1558 -> Biological process: GO:0017144 [drug metabolic process] evidence: IDA GeneID:1558 -> Biological process: GO:0019369 [arachidonic acid metabolic process] evidence: TAS GeneID:1558 -> Biological process: GO:0019373 [epoxygenase P450 pathway] evidence: TAS GeneID:1558 -> Biological process: GO:0042738 [exogenous drug catabolic process] evidence: IDA GeneID:1558 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:1558 -> Biological process: GO:0055114 [oxidation-reduction process] evidence: IDA GeneID:1558 -> Biological process: GO:0070989 [oxidative demethylation] evidence: IDA GeneID:1558 -> Biological process: GO:0097267 [omega-hydroxylase P450 pathway] evidence: TAS GeneID:1558 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: NAS GeneID:1558 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001185783 -> EC 1.14.14.1
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