| URN | urn:agi-llid:1644 |
|---|---|
| Connectivity | 100 |
| Name | Ddc |
| Description | dopa decarboxylase (aromatic L-amino acid decarboxylase) |
| Notes | The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] |
| Pathway | epinephrine biosynthetic pathway |
|---|---|
| norepinephrine biosynthetic pathway |
| Ariadne Ontology | Aromatic aminoacid metabolism |
|---|---|
| His metabolism |
| GO Molecular Function | catalytic activity |
|---|---|
| protein binding | |
| pyridoxal phosphate binding | |
| lyase activity | |
| carboxy-lyase activity | |
| aromatic-L-amino-acid decarboxylase activity |
| GO Cellular Component | intracellular |
|---|
| GO Biological Process | cellular amino acid and derivative metabolic process |
|---|---|
| catecholamine biosynthetic process | |
| dopamine metabolic process | |
| serotonin metabolic process | |
| carboxylic acid metabolic process | |
| response to toxin | |
| circadian rhythm |
| Group | Aromatic aminoacid metabolism |
|---|---|
| His metabolism | |
| intracellular | |
| catalytic activity | |
| protein binding | |
| pyridoxal phosphate binding | |
| lyase activity | |
| carboxy-lyase activity | |
| aromatic-L-amino-acid decarboxylase activity | |
| cellular amino acid and derivative metabolic process | |
| catecholamine biosynthetic process | |
| dopamine metabolic process | |
| serotonin metabolic process | |
| carboxylic acid metabolic process | |
| response to toxin | |
| circadian rhythm |
| Hugo ID | 2719 |
|---|
| Human chromosome position | 7p12.2 |
|---|
| LocusLink ID | 1644 |
|---|---|
| 13195 | |
| 24311 |
| Alias | AADC |
|---|---|
| dopa decarboxylase (aromatic L-amino acid decarboxylase) | |
| L-Dopa decarboxylase | |
| aromatic L-amino acid decarboxylase | |
| RP23-373H2.3 | |
| dopa decarboxylase | |
| OTTMUSP00000005369 | |
| MGC93628 | |
| L-phenylalanine decarboxylase | |
| phenylalanine decarboxylase | |
| L-phenylalanine decarboxylases | |
| phenylalanine decarboxylases | |
| DDC decarboxylase | |
| DDC enzyme | |
| enzyme DDC | |
| DDC protein |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 107930 |
|---|---|
| 608643 |
| Swiss-Prot Accession | P20711 |
|---|---|
| Q53Y41 | |
| Q5W5T9 | |
| Q6IBS8 | |
| O88533 | |
| Q5SUV8 | |
| O35958 | |
| Q3TUH2 | |
| Q5SUV9 | |
| P14173 | |
| Q62819 |
| Unigene ID | Hs.359698 |
|---|---|
| Mm.12906 | |
| Rn.11064 |
| KEGG ID | hsa:1644 |
|---|---|
| mmu:13195 | |
| rno:24311 |
| EC Number | 4.1.1.28 |
|---|
| Swiss-Prot ID | DDC_HUMAN |
|---|---|
| DDC_MOUSE | |
| DDC_RAT | |
| Q53Y41_HUMAN | |
| Q5SUV8_MOUSE |
| Cell Localization | Cytoplasm |
|---|
| GO ID | 0004058 |
|---|---|
| 0016829 | |
| 0005515 | |
| 0030170 | |
| 0019752 | |
| 0042423 | |
| 0006519 | |
| 0009636 | |
| 0016831 | |
| 0003824 | |
| 0007623 | |
| 0042417 | |
| 0042428 | |
| 0005622 |
| IPI ID | IPI00025394 |
|---|---|
| IPI00477841 | |
| IPI00479686 | |
| IPI00131814 | |
| IPI00654045 | |
| IPI00649940 | |
| IPI00567511 | |
| IPI00470246 | |
| IPI00779983 |
| Mouse chromosome position | 11 7.0 cM |
|---|
| Homologene ID | 618 |
|---|
| MGI ID | 94876 |
|---|
| Rat chromosome position | 14q21 |
|---|
| RGD ID | 2494 |
|---|