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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:

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

by @meso_cacase at DBCLS
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