| URN | urn:agi-llid:5860 |
|---|---|
| Connectivity | 16 |
| Name | Qdpr |
| Description | quinoid dihydropteridine reductase |
| Notes | 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 gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq] |
| Pathway | epinephrine biosynthetic pathway |
|---|---|
| norepinephrine biosynthetic pathway |
| Ariadne Ontology | Folate and pterins biosynthesis |
|---|
| GO Molecular Function | electron carrier activity |
|---|---|
| binding | |
| catalytic activity | |
| oxidoreductase activity | |
| 6,7-dihydropteridine reductase activity |
| GO Cellular Component | cellular_component |
|---|---|
| cytoplasm |
| GO Biological Process | metabolic process |
|---|---|
| amino acid metabolic process | |
| L-phenylalanine catabolic process | |
| tetrahydrobiopterin biosynthetic process | |
| dihydrobiopterin metabolic process | |
| oxidation reduction |
| Group | Folate and pterins biosynthesis |
|---|---|
| cellular_component | |
| cytoplasm | |
| electron carrier activity | |
| binding | |
| catalytic activity | |
| oxidoreductase activity | |
| 6,7-dihydropteridine reductase activity | |
| metabolic process | |
| amino acid metabolic process | |
| L-phenylalanine catabolic process | |
| tetrahydrobiopterin biosynthetic process | |
| dihydrobiopterin metabolic process | |
| oxidation reduction |
| Hugo ID | 9752 |
|---|
| Human chromosome position | 4p15.31 |
|---|
| LocusLink ID | 5860 |
|---|---|
| 110391 | |
| 64192 |
| Alias | DHPR |
|---|---|
| PKU2 | |
| SDR33C1 | |
| FLJ42391 | |
| quinoid dihydropteridine reductase | |
| 6,7-dihydropteridine reductase | |
| short chain dehydrogenase/reductase family 33C, member 1 | |
| D5Ertd371e | |
| 2610008L04Rik | |
| 1DIR_As | |
| 1DIR_Bs | |
| 1DIR_Cs | |
| 1DIR_Ds | |
| 1DIR_A | |
| 1DIR_B | |
| 1DIR_C | |
| 1DIR_D | |
| QDPR | |
| Dihydropteridine reductase | |
| HDHPR | |
| quininoid dihydropteridine reductase | |
| LOC153041 | |
| RIKEN cDNA 2610008L04 gene |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 612676 |
|---|---|
| 261630 |
| Swiss-Prot Accession | A8K158 |
|---|---|
| P09417 | |
| Q8BVI4 | |
| P11348 |
| Unigene ID | Hs.75438 |
|---|---|
| Mm.30204 | |
| Rn.241 |
| KEGG ID | hsa:5860 |
|---|---|
| rno:64192 |
| EC Number | 1.5.1.34 |
|---|
| Swiss-Prot ID | DHPR_HUMAN |
|---|---|
| DHPR_MOUSE | |
| DHPR_RAT | |
| A8K158_HUMAN |
| Cell Localization | Mitochondria |
|---|
| GO ID | 0004155 |
|---|---|
| 0005488 | |
| 0009055 | |
| 0016491 | |
| 0006559 | |
| 0006520 | |
| 0051066 | |
| 0055114 | |
| 0006729 | |
| 0005737 | |
| 0003824 | |
| 0008152 | |
| 0005575 |
| IPI ID | IPI00014439 |
|---|---|
| IPI00459279 | |
| IPI00882330 | |
| IPI00881737 | |
| IPI00881473 | |
| IPI00193151 |
| Mouse chromosome position | 5 30.0 cM |
|---|
| Homologene ID | 271 |
|---|
| MGI ID | 97836 |
|---|
| Rat chromosome position | 14q21 |
|---|
| RGD ID | 619915 |
|---|