2024-03-30 00:04:29, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001385 2197 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens dihydropyrimidinase (DPYS), mRNA. ACCESSION NM_001385 VERSION NM_001385.2 GI:169808382 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 2197) AUTHORS Kim,H.Y., Cho,S., Yu,J., Sung,S. and Kim,H. TITLE Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT JOURNAL BMB Rep 43 (8), 547-553 (2010) PUBMED 20797317 REMARK GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 2 (bases 1 to 2197) AUTHORS van Kuilenburg,A.B., Dobritzsch,D., Meijer,J., Meinsma,R., Benoist,J.F., Assmann,B., Schubert,S., Hoffmann,G.F., Duran,M., de Vries,M.C., Kurlemann,G., Eyskens,F.J., Greed,L., Sass,J.O., Schwab,K.O., Sewell,A.C., Walter,J., Hahn,A., Zoetekouw,L., Ribes,A., Lind,S. and Hennekam,R.C. TITLE Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients JOURNAL Biochim. Biophys. Acta 1802 (7-8), 639-648 (2010) PUBMED 20362666 REMARK GeneRIF: The p.S379R and p.L7V mutations were likely to cause structural destabilization and protein misfolding. Four mutations were identified in multiple unrelated DHP patients, indicating that DHP deficiency may be more common than anticipated. REFERENCE 3 (bases 1 to 2197) AUTHORS Fidlerova,J., Kleiblova,P., Bilek,M., Kormunda,S., Formankova,Z., Novotny,J. and Kleibl,Z. TITLE Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients JOURNAL Cancer Chemother. Pharmacol. 65 (4), 661-669 (2010) PUBMED 19649633 REMARK GeneRIF: Results indicate that missense and nonsense variants in DPYS are infrequent, however, the development of serious primarily gastrointestinal toxicity could be influenced by non-coding DPYS sequence variants c.-1T>C and IVS1-58T>C. GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 4 (bases 1 to 2197) AUTHORS Thomas,H.R., Ezzeldin,H.H., Guarcello,V., Mattison,L.K., Fridley,B.L. and Diasio,R.B. TITLE Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism JOURNAL Pharmacogenet. Genomics 18 (1), 25-35 (2008) PUBMED 18216719 REFERENCE 5 (bases 1 to 2197) AUTHORS Thomas,H.R., Ezzeldin,H.H., Guarcello,V., Mattison,L.K., Fridley,B.L. and Diasio,R.B. TITLE Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism JOURNAL Pharmacogenet. Genomics 17 (11), 973-987 (2007) PUBMED 18075467 REMARK GeneRIF: data presented in this study offers evidence for the possible genetic regulation of the DPYS gene and its possible influence on uracil catabolic pathway GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 6 (bases 1 to 2197) AUTHORS Fukada,M., Watakabe,I., Yuasa-Kawada,J., Kawachi,H., Kuroiwa,A., Matsuda,Y. and Noda,M. TITLE Molecular characterization of CRMP5, a novel member of the collapsin response mediator protein family JOURNAL J. Biol. Chem. 275 (48), 37957-37965 (2000) PUBMED 10956643 REFERENCE 7 (bases 1 to 2197) AUTHORS Van Kuilenburg,A.B., Van Lenthe,H. and Van Gennip,A.H. TITLE Radiochemical assay for determination of dihydropyrimidinase activity using reversed-phase high-performance liquid chromatography JOURNAL J. Chromatogr. B Biomed. Sci. Appl. 729 (1-2), 307-314 (1999) PUBMED 10410956 REFERENCE 8 (bases 1 to 2197) AUTHORS Hamajima,N., Kouwaki,M., Vreken,P., Matsuda,K., Sumi,S., Imaeda,M., Ohba,S., Kidouchi,K., Nonaka,M., Sasaki,M., Tamaki,N., Endo,Y., De Abreu,R., Rotteveel,J., van Kuilenburg,A., van Gennip,A., Togari,H. and Wada,Y. TITLE Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene JOURNAL Am. J. Hum. Genet. 63 (3), 717-726 (1998) PUBMED 9718352 REFERENCE 9 (bases 1 to 2197) AUTHORS Hamajima,N., Matsuda,K., Sakata,S., Tamaki,N., Sasaki,M. and Nonaka,M. TITLE A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution JOURNAL Gene 180 (1-2), 157-163 (1996) PUBMED 8973361 REFERENCE 10 (bases 1 to 2197) AUTHORS Naguib,F.N., el Kouni,M.H. and Cha,S. TITLE Enzymes of uracil catabolism in normal and neoplastic human tissues JOURNAL Cancer Res. 45 (11 PT 1), 5405-5412 (1985) PUBMED 3931905 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from D78011.1 and BC034395.1. This sequence is a reference standard in the RefSeqGene project. On Mar 13, 2008 this sequence version replaced gi:4503374. Summary: Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [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 :: BC034395.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-129 D78011.1 1-129 130-2197 BC034395.1 94-2161 FEATURES Location/Qualifiers source 1..2197 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="8" /map="8q22" gene 1..2197 /gene="DPYS" /gene_synonym="DHP; DHPase" /note="dihydropyrimidinase" /db_xref="GeneID:1807" /db_xref="HGNC:3013" /db_xref="HPRD:01960" /db_xref="MIM:613326" exon 1..393 /gene="DPYS" /gene_synonym="DHP; DHPase" /inference="alignment:Splign:1.39.8" misc_feature 7..9 /gene="DPYS" /gene_synonym="DHP; DHPase" /note="upstream in-frame stop codon" CDS 130..1689 /gene="DPYS" /gene_synonym="DHP; DHPase" /EC_number="3.5.2.2" /note="dihydropyrimidine amidohydrolase; hydantoinase" /codon_start=1 /product="dihydropyrimidinase" /protein_id="NP_001376.1" /db_xref="GI:4503375" /db_xref="CCDS:CCDS6302.1" /db_xref="GeneID:1807" /db_xref="HGNC:3013" /db_xref="HPRD:01960" /db_xref="MIM:613326" /translation="
MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGIDTHTHMQFPFMGSRSIDDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCDYSLHVAVTWWSDQVKEEMKILVQDKGVNSFKMFMAYKDLYMVTDLELYEAFSRCKEIGAIAQVHAENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAVNCPLYIVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDLTTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAKIFNLYPRKGRIAVGSDADIVIWDPKGTRTISAKTHHQAVNFNIFEGMVCHGVPLVTISRGKVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRIKQRDRTCTPTPVERAPYKGEVATLKSRVTKEDATAGTRKQAHP
" misc_feature 145..1545 /gene="DPYS" /gene_synonym="DHP; DHPase" /note="phenylhydantoinase; Validated; Region: PRK08323" /db_xref="CDD:181388" misc_feature 148..1509 /gene="DPYS" /gene_synonym="DHP; DHPase" /note="D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine...; Region: D-HYD; cd01314" /db_xref="CDD:30057" misc_feature order(181..186,190..192,229..234,649..651,712..714, 721..723,730..732,799..801,811..813,823..825,832..834, 913..918,922..927,1279..1281,1294..1296,1309..1311) /gene="DPYS" /gene_synonym="DHP; DHPase" /note="tetramer interface [polypeptide binding]; other site" /db_xref="CDD:30057" misc_feature order(328..330,334..336,604..606,703..705,871..873, 1105..1107) /gene="DPYS" /gene_synonym="DHP; DHPase" /note="active site" /db_xref="CDD:30057" variation 345 /gene="DPYS" /gene_synonym="DHP; DHPase" /replace="c" /replace="t" /db_xref="dbSNP:2298840" exon 394..552 /gene="DPYS" /gene_synonym="DHP; DHPase" /inference="alignment:Splign:1.39.8" exon 553..732 /gene="DPYS" /gene_synonym="DHP; DHPase" /inference="alignment:Splign:1.39.8" exon 733..922 /gene="DPYS" /gene_synonym="DHP; DHPase" /inference="alignment:Splign:1.39.8" exon 923..1079 /gene="DPYS" /gene_synonym="DHP; DHPase" /inference="alignment:Splign:1.39.8" exon 1080..1221 /gene="DPYS" /gene_synonym="DHP; DHPase" /inference="alignment:Splign:1.39.8" exon 1222..1364 /gene="DPYS" /gene_synonym="DHP; DHPase" /inference="alignment:Splign:1.39.8" exon 1365..1572 /gene="DPYS" /gene_synonym="DHP; DHPase" /inference="alignment:Splign:1.39.8" exon 1573..1703 /gene="DPYS" /gene_synonym="DHP; DHPase" /inference="alignment:Splign:1.39.8" exon 1704..2123 /gene="DPYS" /gene_synonym="DHP; DHPase" /inference="alignment:Splign:1.39.8" STS 1712..1945 /gene="DPYS" /gene_synonym="DHP; DHPase" /standard_name="RH80769" /db_xref="UniSTS:85677" polyA_signal 2092..2097 /gene="DPYS" /gene_synonym="DHP; DHPase" polyA_site 2123 /gene="DPYS" /gene_synonym="DHP; DHPase" ORIGIN
gcagcctgaggcagagctcgggggctgtcggtggggaccttgcaggagggcaccccaagcccgcccggcccgcccaacccagcccctgcgcgcagcccgggccgagtaggaccccgcgcgcccctcgctatggcggcgccctcgcggctcctgatccgcgggggtcgcgtggtcaacgatgacttctcggaggtggccgacgtgctggtggaggacggcgtggtgcgggcactcgggcacgacctgctgcctcccgggggcgctcctgcggggctgcgggtcctcgacgccgccggcaagctcgtcctgcccggaggcatcgacacacacacgcacatgcagttccccttcatgggctcgcggtccatcgacgacttccaccagggcaccaaggctgctctctcaggaggcaccaccatgattattgatttcgccattcctcagaaaggtggctccctcattgaggccttcgagacctggcgaagctgggctgatcccaaagtttgctgcgactacagccttcatgtggcagtgacgtggtggagtgaccaggttaaagaagaaatgaaaatccttgtgcaagataaaggtgttaactctttcaagatgtttatggcctataaagatctgtacatggtgacagacctggagctgtacgaagccttctctcggtgcaaggaaattggagcaattgcccaggtccatgcggaaaatggagacttaattgcagagggagcaaagaagatgttggctctggggataacaggccctgagggccacgagctgtgccgcccagaggcagtggaggcagaggccacgctgagagccatcaccatagccagcgctgtgaactgtcctctctacattgtgcatgtgatgagcaagtctgcagctaaggtgatagcggatgcaaggagagatgggaaggtggtctatggtgaacccatagcagccagtcttggcacagatggcactcactactggaataaagaatggcaccatgcagcccaccatgtcatgggtccacctttgcgaccagacccctcaacacccgacttcctcatgaatctgttggctaatgatgatctaaccacaacagggactgataactgcactttcaacacctgccagaaagctcttgggaaggatgattttaccaagatccccaatggggtgaatggtgttgaagatcggatgtccgtaatatgggaaaaaggcgtgcatagtggtaaaatggatgaaaacagatttgtggcagttaccagcacaaatgcagccaaaatttttaatctctatccaagaaaaggaagaatagctgtaggatcagatgctgacattgttatttgggacccaaaaggcacaaggactatctcagcaaaaactcatcatcaggctgttaacttcaacattttcgagggcatggtttgccacggggtgccccttgtgactatttcaagaggcaaagtggtatatgaagccggagtgttcagtgtcacggcaggagatgggaagtttattcctcgaaaaccatttgctgaatatatttacaaacgaataaagcagcgagaccggacttgcacacctacccctgtggagcgtgcaccctataagggagaagtcgccacactgaaatccagagtgacaaaagaagatgccacagcagggaccaggaaacaggcccacccctgaagtgtgtgccatcggtaaaaaaatcagaggaaaggaggctgccattcccttcacagccaaacattgtcaacccatggagaagcaggccttattcaactccctaggatcctttagaaaaaattcaccactataggcttctttgattttctttcagaagcaattgctgtctttctcactgtgtttttgttgctgcataagattgaaggtataaatttatattattgtgatggaaaggctgtgtggaaattcattgatgatactttaaaatgtcatctttgcttgtactagatttcttacttagaatttttaaaaatcattttcttgtttaaatagtttctttttttaaaaaaatggttacattagttttaaaatagctctgtgattttactttttattgtaattaataaacattgagatcttcattttataccttaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:1807 -> Molecular function: GO:0002058 [uracil binding] evidence: IEA GeneID:1807 -> Molecular function: GO:0002059 [thymine binding] evidence: IEA GeneID:1807 -> Molecular function: GO:0004157 [dihydropyrimidinase activity] evidence: IDA GeneID:1807 -> Molecular function: GO:0004157 [dihydropyrimidinase activity] evidence: IMP GeneID:1807 -> Molecular function: GO:0004157 [dihydropyrimidinase activity] evidence: TAS GeneID:1807 -> Molecular function: GO:0008270 [zinc ion binding] evidence: NAS GeneID:1807 -> Molecular function: GO:0016597 [amino acid binding] evidence: IEA GeneID:1807 -> Molecular function: GO:0051219 [phosphoprotein binding] evidence: IEA GeneID:1807 -> Biological process: GO:0006206 [pyrimidine nucleobase metabolic process] evidence: TAS GeneID:1807 -> Biological process: GO:0006208 [pyrimidine nucleobase catabolic process] evidence: IDA GeneID:1807 -> Biological process: GO:0006210 [thymine catabolic process] evidence: ISS GeneID:1807 -> Biological process: GO:0006212 [uracil catabolic process] evidence: IDA GeneID:1807 -> Biological process: GO:0006212 [uracil catabolic process] evidence: IMP GeneID:1807 -> Biological process: GO:0019482 [beta-alanine metabolic process] evidence: IEA GeneID:1807 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:1807 -> Biological process: GO:0046135 [pyrimidine nucleoside catabolic process] evidence: TAS GeneID:1807 -> Biological process: GO:0051289 [protein homotetramerization] evidence: ISS GeneID:1807 -> Biological process: GO:0055086 [nucleobase-containing small molecule metabolic process] evidence: TAS GeneID:1807 -> Cellular component: GO:0005829 [cytosol] evidence: ISS GeneID:1807 -> Cellular component: GO:0005829 [cytosol] evidence: TAS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001376 -> EC 3.5.2.2
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