• Gene id: 1806

Gene Summary

• Gene Symbol: DPYD   Gene   UCSC   Ensembl
• Aliases: DHP, DHPDHASE, DPD
• Gene name: dihydropyrimidine dehydrogenase
• Alternate names: dihydropyrimidine dehydrogenase [NADP(+)], dihydrothymine dehydrogenase, dihydrouracil dehydrogenase,
• Gene location: 1p21.3 (97921058: 97077742)     Exons: 26     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidi
• OMIM: 603310

Protein Summary

• Protein general information: Q12882  
  • Name: Dihydropyrimidine dehydrogenase [NADP(+)] (DHPDHase) (DPD) (EC 1.3.1.2) (Dihydrothymine dehydrogenase) (Dihydrouracil dehydrogenase)
  • Length: 1025  
  • Mass: 111401
  • Tissue specificity: Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells.
• Sequence:

  MAPVLSKDSADIESILALNPRTQTHATLCSTSAKKLDKKHWKRNPDKNCFNCEKLENNFDDIKHTTLGERGALRE
  AMRCLKCADAPCQKSCPTNLDIKSFITSIANKNYYGAAKMIFSDNPLGLTCGMVCPTSDLCVGGCNLYATEEGPI
  NIGGLQQFATEVFKAMSIPQIRNPSLPPPEKMSEAYSAKIALFGAGPASISCASFLARLGYSDITIFEKQEYVGG
  LSTSEIPQFRLPYDVVNFEIELMKDLGVKIICGKSLSVNEMTLSTLKEKGYKAAFIGIGLPEPNKDAIFQGLTQD
  QGFYTSKDFLPLVAKGSKAGMCACHSPLPSIRGVVIVLGAGDTAFDCATSALRCGARRVFIVFRKGFVNIRAVPE
  EMELAKEEKCEFLPFLSPRKVIVKGGRIVAMQFVRTEQDETGKWNEDEDQMVHLKADVVISAFGSVLSDPKVKEA
  LSPIKFNRWGLPEVDPETMQTSEAWVFAGGDVVGLANTTVESVNDGKQASWYIHKYVQSQYGASVSAKPELPLFY
  TPIDLVDISVEMAGLKFINPFGLASATPATSTSMIRRAFEAGWGFALTKTFSLDKDIVTNVSPRIIRGTTSGPMY
  GPGQSSFLNIELISEKTAAYWCQSVTELKADFPDNIVIASIMCSYNKNDWTELAKKSEDSGADALELNLSCPHGM
  GERGMGLACGQDPELVRNICRWVRQAVQIPFFAKLTPNVTDIVSIARAAKEGGANGVTATNTVSGLMGLKSDGTP
  WPAVGIAKRTTYGGVSGTAIRPIALRAVTSIARALPGFPILATGGIDSAESGLQFLHSGASVLQVCSAIQNQDFT
  VIEDYCTGLKALLYLKSIEELQDWDGQSPATVSHQKGKPVPRIAELMDKKLPSFGPYLEQRKKIIAENKIRLKEQ
  NVAFSPLKRNCFIPKRPIPTIKDVIGKALQYLGTFGELSNVEQVVAMIDEEMCINCGKCYMTCNDSGYQAIQFDP
  ETHLPTITDTCTGCTLCLSVCPIVDCIKMVSRTTPYEPKRGVPLSVNPVC

• Structural information:
  • Protein Domains: (69..10-)
    1 (/note="4Fe-4S-ferredoxin-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00711-)
    (944..97-)
    2 (/note="4Fe-4S-ferredoxin-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00711-)
    (978..100-)
    3 (/note="4Fe-4S-ferredoxin-type)
  • Interpro: IPR017896  IPR017900  IPR013785  IPR005720  IPR028261   IPR036188  IPR023753  IPR009051  
  • Prosite: PS00198 PS51379
  • STRING: ENSP00000359211
• Other Databases: GeneCards:  DPYD  Malacards:  DPYD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050661	NADP binding	IBA	molecular function
GO:0017113	dihydropyrimidine dehydrogenase (NADP+) activity	IBA	molecular function
GO:0006212	uracil catabolic process	IBA	biological process
GO:0006210	thymine catabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0051536	iron-sulfur cluster binding	IBA	molecular function
GO:0002058	uracil binding	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0017113	dihydropyrimidine dehydrogenase (NADP+) activity	IEA	molecular function
GO:0046135	pyrimidine nucleoside catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0006208	pyrimidine nucleobase catabolic process	IEA	biological process
GO:0017113	dihydropyrimidine dehydrogenase (NADP+) activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0019483	beta-alanine biosynthetic process	IEA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0017113	dihydropyrimidine dehydrogenase (NADP+) activity	IDA	molecular function
GO:0006212	uracil catabolic process	IDA	biological process
GO:0006210	thymine catabolic process	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0017113	dihydropyrimidine dehydrogenase (NADP+) activity	IDA	molecular function
GO:0017113	dihydropyrimidine dehydrogenase (NADP+) activity	IDA	molecular function
GO:0006212	uracil catabolic process	IDA	biological process
GO:0006214	thymidine catabolic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0050661	NADP binding	ISS	molecular function
GO:0050660	flavin adenine dinucleotide binding	ISS	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0017113	dihydropyrimidine dehydrogenase (NADP+) activity	ISS	molecular function
GO:0006208	pyrimidine nucleobase catabolic process	IMP	biological process
GO:0006208	pyrimidine nucleobase catabolic process	ISS	biological process
GO:0017113	dihydropyrimidine dehydrogenase (NADP+) activity	IMP	molecular function
GO:0006145	purine nucleobase catabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00983	Drug metabolism - other enzymes
hsa00240	Pyrimidine metabolism
hsa00410	beta-Alanine metabolism
hsa00770	Pantothenate and CoA biosynthesis

Diseases

Associated diseases	References
Dihydropyrimidine dehydrogenase deficiency	KEGG:H00193
Dihydropyrimidine dehydrogenase deficiency	KEGG:H00193
pancreatic cancer	PMID:20072795
pancreatic cancer	PMID:18309485
gallbladder cancer	PMID:16619549
acute lymphocytic leukemia	PMID:26846104
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R