| URN | urn:agi-llid:5860 |
|---|---|
| Connectivity | 24 |
| 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 | |
| Copy of 'epinephrine biosynthetic pathway' | |
| norepinephrine biosynthetic pathway | |
| dopamine biosynthetic pathway | |
| epinephrine biosynthetic pathway | |
| epinephrine biosynthetic pathway |
| GO Molecular Function | electron carrier activity |
|---|---|
| catalytic activity | |
| oxidoreductase activity | |
| 6,7-dihydropteridine reductase activity |
| GO Cellular Component | cytoplasm |
|---|---|
| mitochondrion |
| GO Biological Process | metabolic process |
|---|---|
| oxidation reduction | |
| cellular amino acid metabolic process | |
| dihydrobiopterin metabolic process | |
| tetrahydrobiopterin biosynthetic process |
| Ariadne Ontology | Folate and pterins biosynthesis |
|---|
| Group | Folate and pterins biosynthesis |
|---|---|
| electron carrier activity | |
| catalytic activity | |
| metabolic process | |
| oxidation reduction | |
| cellular amino acid metabolic process | |
| dihydrobiopterin metabolic process | |
| tetrahydrobiopterin biosynthetic process | |
| oxidoreductase activity | |
| 6,7-dihydropteridine reductase activity | |
| cytoplasm | |
| mitochondrion |
| MedScan ID | 5860 |
|---|
| Hugo ID | 9752 |
|---|
| Human chromosome position | 4p15.31 |
|---|
| LocusLink ID | 5860 |
|---|---|
| 110391 | |
| 64192 |
| Alias | DHPR |
|---|---|
| PKU2 | |
| SDR33C1 | |
| FLJ42391 | |
| dihydropteridine reductase | |
| HDHPR | |
| 6,7-dihydropteridine reductase | |
| short chain dehydrogenase/reductase family 33C, member 1 | |
| D5Ertd371e | |
| 2610008L04Rik | |
| OTTMUSP00000034850 | |
| OTTMUSP00000034851 | |
| OTTMUSP00000034852 | |
| 1DIR_A | |
| 1DIR_As | |
| 1DIR_B | |
| 1DIR_Bs | |
| 1DIR_C | |
| 1DIR_Cs | |
| 1DIR_D | |
| 1DIR_Ds | |
| 2610008L04 | |
| DNA segment, Chr 5, ERATO Doi 371, expressed | |
| LOC153041 | |
| QDPR | |
| quininoid dihydropteridine reductase | |
| quinoid dihydropteridine reductase | |
| RIKEN cDNA 2610008L04 gene |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 612676 |
|---|---|
| 261630 |
| Mouse chromosome position | 5 30.0 cM |
|---|
| GO ID | 0004155 |
|---|---|
| 0009055 | |
| 0016491 | |
| 0006520 | |
| 0051066 | |
| 0055114 | |
| 0006729 | |
| 0005737 | |
| 0005739 | |
| 0003824 | |
| 0008152 | |
| 0005488 | |
| 0006559 | |
| 0005575 |
| Rat chromosome position | 14q21 |
|---|
| Swiss-Prot Accession | P09417 |
|---|---|
| Q8BVI4 | |
| P11348 | |
| Q3TT09 | |
| Q9D0K4 | |
| A8K158 | |
| Q53F52 | |
| Q9H3M5 |
| PIR ID | A93655 |
|---|---|
| A28473 |
| Unigene ID | Hs.75438 |
|---|---|
| Mm.30204 | |
| Rn.241 |
| KEGG ID | hsa:5860 |
|---|---|
| mmu:110391 | |
| rno:64192 |
| EC Number | 1.5.1.34 |
|---|
| Swiss-Prot ID | DHPR_MOUSE |
|---|---|
| DHPR_HUMAN | |
| DHPR_RAT | |
| A8K158_HUMAN |
| Cell Localization | Mitochondria |
|---|
| IPI ID | IPI00459279 |
|---|---|
| IPI00014439 | |
| IPI00193151 | |
| IPI00882330 | |
| IPI00881737 | |
| IPI00881473 |
| Homologene ID | 271 |
|---|
| RGD ID | 619915 |
|---|
| MGI ID | 97836 |
|---|