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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. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]
DDC (Dopa Decarboxylase) is a Protein Coding gene. Diseases associated with DDC include Aromatic L-Amino Acid Decarboxylase Deficiency and Dopamine Beta-Hydroxylase Deficiency. Among its related pathways are Neuroscience and Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include enzyme binding and pyridoxal phosphate binding. An important paralog of this gene is HDC.
Decarboxylases are a group of enzymes that remove carboxyl groups (CO2H) from acidic substrates and require either pyridoxal phosphate or pyruvate as a co-factor. Decarboxylases are known for their various roles in metabolic pathways and carbohydrate synthesis.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH07J050553 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE dbSUPER | 600.7 | +4.7 | 4670 | 13.7 | GATAD2A ATF7 REST ZNF512 LEF1 IKZF1 RCOR2 JUND ZIC2 RFX1 | DDC FIGNL1 DDC-AS1 lnc-GRB10-2 | |
GH07J050467 | Promoter/Enhancer | 1.3 | EPDnew ENCODE | 600.2 | +97.2 | 97153 | 0.9 | CREB1 GATAD2A CTCF TFE3 NFKBIZ JUND ZNF143 RXRB PATZ1 REST | DDC FIGNL1 piR-54764-578 lnc-IKZF1-7 lnc-GRB10-2 IKZF1 | |
GH07J050537 | Promoter | 0.3 | EPDnew | 611.7 | +27.5 | 27494 | 0.1 | DDC FIGNL1 DDC-AS1 lnc-GRB10-2 IKZF1 | ||
GH07J050533 | Enhancer | 1.3 | FANTOM5 Ensembl ENCODE | 18.3 | +30.7 | 30671 | 3.3 | CREB1 ZNF629 LEF1 IKZF1 JUND DDX20 MTA2 PHF21A RFX1 PKNOX1 | FIGNL1 DDC DDC-AS1 lnc-GRB10-2 IKZF1 | |
GH07J050591 | Enhancer | 1.1 | Ensembl ENCODE dbSUPER | 11.7 | -26.3 | -26253 | 1.3 | GATAD2A ZNF7 POLR2A SOX13 TCF7 ZKSCAN8 FOXA2 MAFF KAT7 TEAD1 | DDC piR-38716-141 lnc-DDC-4 GRB10 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004058 | aromatic-L-amino-acid decarboxylase activity | TAS,IDA | 16338639 |
GO:0005515 | protein binding | IPI | 12864730 |
GO:0016597 | amino acid binding | IEA | -- |
GO:0016829 | lyase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0008021 | synaptic vesicle | IEA | -- |
GO:0030424 | axon | IEA | -- |
GO:0043025 | neuronal cell body | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Tyrosine metabolism |
Tyrosine metabolism p.1 (dopamine)
.32
|
|
2 | Amine-derived hormones | ||
3 | Biogenic Amine Synthesis | ||
4 | Amphetamine addiction | ||
5 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006520 | cellular amino acid metabolic process | IEA | -- |
GO:0006584 | catecholamine metabolic process | IBA | 21873635 |
GO:0007623 | circadian rhythm | IEA | -- |
GO:0009636 | response to toxic substance | IEA | -- |
GO:0010259 | multicellular organism aging | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Carbidopa | Approved | Pharma | Inhibitor, Inhibition, Target, inhibitor | 214 | ||
Benserazide | Approved, Investigational | Pharma | Inhibitor, Inhibition, Target, inhibitor | 26 | ||
Amantadine | Approved | Pharma | Enzyme, inducer | 84 | ||
Levodopa | Approved | Pharma | Agonist, Enzyme, substrate | 470 | ||
Cycloserine | Approved | Pharma | Enzyme, inhibitor | 124 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
1-Phenylethylamine |
|
98-84-0 |
|
|||
5-Hydroxykynurenamine |
|
708-23-6 |
|
|||
5-Hydroxykynurenine |
|
720-00-3 |
|
|||
DL-Dopa |
|
63-84-3 |
|
|||
Hydroxykynurenine |
|
484-78-6 |
|
Compound | Action | Cas Number |
---|---|---|
(S)-(-)-Carbidopa | Aromatic L-amino acid decarboxylase inhibitor | 28860-95-9 |
DFMO | Ornithine decarboxylase inhibitor | 68278-23-9 |
L-(-)-alpha-Methyldopa | Aromatic L-amino acid decarboxylase inhibitor | 555-30-6 |
Compound | Action | Cas Number |
---|---|---|
Benserazide HCl | 0 | 14919-77-8 |
Carbidopa | 28860-95-9 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DDC 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DDC 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ddc 30 |
|
||
Dog (Canis familiaris) |
Mammalia | DDC 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ddc 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DDC 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DDC 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DDC 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DDC 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ddc 30 |
|
||
Str.8146 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | ddc 30 31 |
|
OneToOne | |
wufa56d05 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Ddc 30 31 32 |
|
OneToMany | |
CG30445 32 |
|
|
|||
CG30446 32 |
|
|
|||
Hdc 32 |
|
|
|||
amd 31 32 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009091 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | tdc-1 32 |
|
|
|
bas-1 31 |
|
OneToMany | |||
ZK829.2 32 |
|
|
|||
basl-1 31 |
|
OneToMany | |||
C05D2.3 32 |
|
|
|||
F12A10.3 32 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G20340 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0437500 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08275 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636255 | Pathogenic: Deficiency of aromatic-L-amino-acid decarboxylase | 50,529,332(-) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
645612 | Uncertain Significance: Deficiency of aromatic-L-amino-acid decarboxylase | 50,476,628(-) | T/C | MISSENSE_VARIANT | |
708479 | Likely Benign: not provided | 50,476,649(-) | G/A | INTRON_VARIANT | |
721680 | Likely Benign: not provided | 50,543,877(-) | A/G | INTRON_VARIANT | |
731874 | Likely Benign: not provided | 50,543,954(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1286e214 | CNV | gain | 21293372 |
esv2678897 | CNV | deletion | 23128226 |
esv3613125 | CNV | loss | 21293372 |
esv3613127 | CNV | gain | 21293372 |
nsv1015758 | CNV | gain | 25217958 |
nsv1016665 | CNV | gain | 25217958 |
nsv1026081 | CNV | loss | 25217958 |
nsv1114937 | CNV | deletion | 24896259 |
nsv507390 | OTHER | sequence alteration | 20534489 |
nsv516640 | CNV | loss | 19592680 |
nsv606905 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
aromatic l-amino acid decarboxylase deficiency |
|
|
dopamine beta-hydroxylase deficiency |
|
|
autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia |
|
|
autoimmune polyendocrine syndrome |
|
|
oculogyric crisis |
|
|