| URN | urn:agi-llid:1644 |
|---|---|
| Connectivity | 136 |
| 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 | |
| Copy of 'epinephrine biosynthetic pathway' | |
| norepinephrine biosynthetic pathway | |
| dopamine biosynthetic pathway | |
| epinephrine biosynthetic pathway | |
| epinephrine biosynthetic pathway |
| GO Molecular Function | catalytic activity |
|---|---|
| lyase activity | |
| pyridoxal phosphate binding | |
| carboxy-lyase activity | |
| aromatic-L-amino-acid decarboxylase activity |
| GO Cellular Component | intracellular |
|---|
| GO Biological Process | circadian rhythm |
|---|---|
| cellular amino acid and derivative metabolic process | |
| serotonin metabolic process | |
| catecholamine biosynthetic process | |
| carboxylic acid metabolic process | |
| dopamine metabolic process | |
| response to toxin |
| Ariadne Ontology | His metabolism |
|---|---|
| Aromatic amino acid metabolism |
| Group | His metabolism |
|---|---|
| Aromatic amino acid metabolism | |
| catalytic activity | |
| circadian rhythm | |
| cellular amino acid and derivative metabolic process | |
| serotonin metabolic process | |
| catecholamine biosynthetic process | |
| carboxylic acid metabolic process | |
| dopamine metabolic process | |
| response to toxin | |
| lyase activity | |
| pyridoxal phosphate binding | |
| carboxy-lyase activity | |
| aromatic-L-amino-acid decarboxylase activity | |
| intracellular |
| MedScan ID | 1644 |
|---|
| Hugo ID | 2719 |
|---|
| Human chromosome position | 7p12.2 |
|---|
| LocusLink ID | 1644 |
|---|---|
| 13195 | |
| 24311 |
| Alias | AADC |
|---|---|
| aromatic-L-amino-acid decarboxylase | |
| OTTHUMP00000209022 | |
| OTTHUMP00000209025 | |
| OTTHUMP00000209026 | |
| RP23-373H2.3 | |
| OTTMUSP00000005369 | |
| MGC93628 | |
| aromatic L-amino acid decarboxylase | |
| amino acid decarboxylase | |
| aromatic amino acid decarboxylase | |
| DDC decarboxylase | |
| DDC enzyme | |
| DDC protein | |
| DOPA decarboxylase | |
| dopa decarboxylase (aromatic L-amino acid decarboxylase) | |
| enzyme DDC | |
| hAADC | |
| human L-amino acid decarboxylase | |
| L-amino acid decarboxylase | |
| L-DOPA decarboxylase | |
| L-phenylalanine decarboxylase | |
| L-phenylalanine decarboxylases | |
| phenylalanine decarboxylase | |
| phenylalanine decarboxylases |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 107930 |
|---|---|
| 608643 |
| Mouse chromosome position | 11 7.0 cM |
|---|
| GO ID | 0004058 |
|---|---|
| 0016829 | |
| 0030170 | |
| 0019752 | |
| 0042423 | |
| 0006519 | |
| 0007623 | |
| 0009636 | |
| 0016831 | |
| 0003824 | |
| 0042417 | |
| 0042428 | |
| 0005622 | |
| 0005515 |
| Rat chromosome position | 14q21 |
|---|
| Swiss-Prot Accession | P20711 |
|---|---|
| Q53Y41 | |
| Q5W5T9 | |
| Q6IBS8 | |
| O88533 | |
| Q5SUV8 | |
| O35958 | |
| Q3TUH2 | |
| Q5SUV9 | |
| P14173 | |
| Q62819 | |
| Q16723 | |
| Q75MJ6 | |
| Q6LEG4 |
| PIR ID | A33663 |
|---|---|
| A33994 |
| 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 |
|---|
| IPI ID | IPI00025394 |
|---|---|
| IPI00131814 | |
| IPI00470246 | |
| IPI00477841 | |
| IPI00479686 | |
| IPI00654045 | |
| IPI00649940 | |
| IPI00567511 | |
| IPI00779983 |
| Homologene ID | 618 |
|---|
| RGD ID | 2494 |
|---|
| MGI ID | 94876 |
|---|