• Gene id: 5860

Gene Summary

• Gene Symbol: QDPR   Gene   UCSC   Ensembl
• Aliases: DHPR, HDHPR, PKU2, SDR33C1
• Gene name: quinoid dihydropteridine reductase
• Alternate names: dihydropteridine reductase, 6,7-dihydropteridine reductase, short chain dehydrogenase/reductase family 33C member 1, testis secretory sperm-binding protein Li 236P,
• Gene location: 4p15.32 (17512233: 17486392)     Exons: 7     NC_000004.12
• Gene summary(Entrez): This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this
• OMIM: 612676

Protein Summary

• Protein general information: P09417  
  • Name: Dihydropteridine reductase (EC 1.5.1.34) (HDHPR) (Quinoid dihydropteridine reductase) (Short chain dehydrogenase/reductase family 33C member 1)
  • Length: 244  
  • Mass: 25790
• Sequence:

  MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAEVGKLL
  GEEKVDAILCVAGGWAGGNAKSKSLFKNCDLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAALDGTPGMIGY
  GMAKGAVHQLCQSLAGKNSGMPPGAAAIAVLPVTLDTPMNRKSMPEADFSSWTPLEFLVETFHDWITGKNRPSSG
  SLIQVVTTEGRTELTPAYF

• Structural information:
  • Interpro: IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • PDB: 1HDR
  • PDBsum: 1HDR
  • STRING: ENSP00000281243
• Other Databases: GeneCards:  QDPR  Malacards:  QDPR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022900	electron transport chain	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0009055	electron transfer activity	TAS	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006729	tetrahydrobiopterin biosynthetic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006729	tetrahydrobiopterin biosynthetic process	IBA	biological process
GO:0006559	L-phenylalanine catabolic process	IBA	biological process
GO:0070404	NADH binding	IBA	molecular function
GO:0070402	NADPH binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0004155	6,7-dihydropteridine reductase activity	IBA	molecular function
GO:0004155	6,7-dihydropteridine reductase activity	TAS	molecular function
GO:0006520	cellular amino acid metabolic process	TAS	biological process
GO:0051066	dihydrobiopterin metabolic process	TAS	biological process
GO:0004155	6,7-dihydropteridine reductase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006559	L-phenylalanine catabolic process	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0006559	L-phenylalanine catabolic process	IEA	biological process
GO:0006729	tetrahydrobiopterin biosynthetic process	IEA	biological process
GO:0010288	response to lead ion	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0001889	liver development	IEA	biological process
GO:0004155	6,7-dihydropteridine reductase activity	IEA	molecular function
GO:0010044	response to aluminum ion	IEA	biological process
GO:0033762	response to glucagon	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0070402	NADPH binding	IEA	molecular function
GO:0070404	NADH binding	IEA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00790	Folate biosynthesis

Diseases

Associated diseases	References
Phenylketonuria	KEGG:H00167
Phenylketonuria	KEGG:H00167
Phenylketonuria	PMID:2116088
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)