| URN | urn:agi-llid:5860 |
|---|---|
| Total Entities | 0 |
| Connectivity | 82 |
| 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] |
| GO Molecular Function | oxidoreductase activity |
|---|---|
| 6,7-dihydropteridine reductase activity | |
| electron carrier activity | |
| protein homodimerization activity | |
| NADPH binding | |
| NADH binding |
| GO Cellular Component | cytoplasm |
|---|---|
| cytosol | |
| mitochondrion | |
| neuron projection |
| GO Biological Process | metabolic process |
|---|---|
| small molecule metabolic process | |
| oxidation-reduction process | |
| L-phenylalanine catabolic process | |
| cellular amino acid metabolic process | |
| liver development | |
| response to glucagon | |
| response to lead ion | |
| response to aluminum ion | |
| cellular response to drug | |
| cellular nitrogen compound metabolic process | |
| tetrahydrobiopterin biosynthetic process | |
| dihydrobiopterin metabolic process |
| Pathway | epinephrine biosynthetic pathway |
|---|---|
| norepinephrine biosynthetic pathway | |
| norepinephrine biosynthetic pathway | |
| epinephrine biosynthetic pathway | |
| norepinephrine biosynthetic pathway | |
| dopamine biosynthetic pathway | |
| epinephrine biosynthetic pathway |
| Group | Folate and pterins biosynthesis |
|---|---|
| metabolic process | |
| small molecule metabolic process | |
| oxidation-reduction process | |
| L-phenylalanine catabolic process | |
| oxidoreductase activity | |
| 6,7-dihydropteridine reductase activity | |
| cellular amino acid metabolic process | |
| liver development | |
| response to glucagon | |
| response to lead ion | |
| response to aluminum ion | |
| cellular response to drug | |
| cellular nitrogen compound metabolic process | |
| tetrahydrobiopterin biosynthetic process | |
| dihydrobiopterin metabolic process | |
| electron carrier activity | |
| protein homodimerization activity | |
| NADPH binding | |
| NADH binding | |
| cytoplasm | |
| cytosol | |
| mitochondrion | |
| neuron projection | |
| Disease Genes Identified in Epilepsy Associated with Inherited Errors of Metabolism |
| LocusLink ID | 5860 |
|---|---|
| 110391 | |
| 64192 |
| Cell Localization | Mitochondria |
|---|
| GO ID | 0004155 |
|---|---|
| 0070404 | |
| 0070402 | |
| 0009055 | |
| 0042803 | |
| 0006559 | |
| 0006520 | |
| 0034641 | |
| 0035690 | |
| 0051066 | |
| 0001889 | |
| 0010044 | |
| 0033762 | |
| 0010288 | |
| 0044281 | |
| 0006729 | |
| 0005737 | |
| 0005829 | |
| 0005739 | |
| 0043005 | |
| 0016491 | |
| 0008152 | |
| 0055114 | |
| 0005488 | |
| 0003824 | |
| 0005575 |
| Alias | DHPR |
|---|---|
| PKU2 | |
| SDR33C1 | |
| dihydropteridine reductase | |
| HDHPR | |
| 6,7-dihydropteridine reductase | |
| short chain dehydrogenase/reductase family 33C, member 1 | |
| D5Ertd371e | |
| 2610008L04Rik | |
| Phenylketonuria type 2 gene | |
| quininoid dihydropteridine reductase | |
| DNA segment, Chr 5, ERATO Doi 371, expressed | |
| OTTMUSP00000034851 | |
| OTTMUSP00000034852 | |
| QDPR | |
| OTTMUSP00000034850 | |
| quinoid dihydropteridine reductase | |
| OTTHUMP00000217802 | |
| OTTHUMP00000217800 | |
| RIKEN cDNA 2610008L04 gene | |
| PKU2 gene | |
| OTTHUMP00000217914 | |
| 1DIR_As | |
| 1DIR_A | |
| 1DIR_B | |
| 1DIR_Bs | |
| 1DIR_C | |
| 1DIR_Cs | |
| 1DIR_D | |
| 2610008L04 | |
| FLJ42391 | |
| 1DIR_Ds | |
| LOC153041 |
| Mouse chromosome position | 5 24.9 cM |
|---|---|
| 5 30.0 cM |
| OMIM ID | 612676 |
|---|---|
| 261630 |
| Rat chromosome position | 14q21 |
|---|
| Hugo ID | 9752 |
|---|
| Human chromosome position | 4p15.31 |
|---|
| Swiss-Prot Accession | P09417 |
|---|---|
| B3KW71 | |
| Q8BVI4 | |
| P11348 | |
| A8K158 | |
| Q53F52 | |
| Q9H3M5 | |
| Q3TT09 | |
| Q9D0K4 |
| PIR ID | A93655 |
|---|---|
| A28473 |
| Unigene ID | Hs.75438 |
|---|---|
| Mm.30204 | |
| Rn.241 |
| KEGG ID | hsa:5860 |
|---|---|
| mmu:110391 | |
| rno:64192 |
| Swiss-Prot ID | DHPR_HUMAN |
|---|---|
| DHPR_RAT | |
| DHPR_MOUSE | |
| A8K158_HUMAN |
| EC Number | 1.5.1.34 |
|---|
| Ensembl ID | ENSG00000151552 |
|---|---|
| ENSP00000281243 | |
| ENST00000281243 | |
| ENSP00000390944 | |
| ENST00000428702 | |
| ENSMUSG00000015806 | |
| ENSMUSP00000015950 | |
| ENSMUST00000015950 | |
| ENSRNOG00000003253 | |
| ENSRNOP00000004385 | |
| ENSRNOT00000004385 |
| Homologene ID | 271 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 97836 |
|---|
| RGD ID | 619915 |
|---|
| MedScan ID | 5860 |
|---|
| IPI ID | IPI00014439 |
|---|---|
| IPI00459279 | |
| IPI00882330 | |
| IPI00881737 | |
| IPI00881473 | |
| IPI00193151 |