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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 Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. 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 | 750.6 | +4.7 | 4667 | 13.7 | FOXA1 MLX RBPJ SMARCE1 NR2F1 NR2F6 CREB1 MIXL1 RUNX1 CC2D1A | DDC FIGNL1 DDC-AS1 KP729825 | |
GH07J050467 | Promoter/Enhancer | 1.3 | EPDnew ENCODE | 750.2 | +97.2 | 97150 | 0.9 | CTCF SREBF1 RBPJ MIXL1 MYC CC2D1A L3MBTL2 MAX RAD21 MNT | DDC FIGNL1 piR-54764-578 lnc-IKZF1-7 KP729825 | |
GH07J050537 | Promoter | 0.3 | EPDnew | 761.7 | +27.5 | 27491 | 0.1 | DDC FIGNL1 DDC-AS1 KP729825 | ||
GH07J050533 | Enhancer | 1.3 | FANTOM5 Ensembl ENCODE | 18.2 | +30.7 | 30668 | 3.3 | SMARCE1 L3MBTL2 MAX TEAD4 ZBTB33 GTF2F1 MAFK MLLT1 BACH1 CBFA2T2 | FIGNL1 DDC DDC-AS1 KP729825 | |
GH07J050591 | Enhancer | 1.1 | Ensembl ENCODE dbSUPER | 11.7 | -26.3 | -26256 | 1.3 | CREB1 MIXL1 AHR HNF1A KAT8 ZNF644 GATAD2A ZNF7 POLR2A KAT7 | DDC piR-38716-141 lnc-DDC-4 GRB10 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
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:0016831 | carboxy-lyase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0008021 | synaptic vesicle | IEA | -- |
GO:0030424 | axon | IEA | -- |
GO:0043025 | neuronal cell body | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Phenylalanine metabolism | ||
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:0007623 | circadian rhythm | IEA | -- |
GO:0009636 | response to toxic substance | IEA | -- |
GO:0010259 | multicellular organism aging | IEA | -- |
GO:0015842 | aminergic neurotransmitter loading into synaptic vesicle | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Carbidopa | Approved | Pharma | Inhibition, Inhibitor, Target, inhibitor | 209 | ||
Benserazide | Approved, Investigational | Pharma | Inhibition, Inhibitor, Target, inhibitor | 25 | ||
Amantadine | Approved | Pharma | Enzyme, inducer | 78 | ||
Levodopa | Approved | Pharma | Agonist, Enzyme | 454 | ||
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 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | DDC 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Ddc 32 |
|
||
dog (Canis familiaris) |
Mammalia | DDC 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Ddc 17 33 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | DDC 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | DDC 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | DDC 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | DDC 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | ddc 32 |
|
||
Str.8146 32 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | ddc 33 32 |
|
OneToOne | |
wufa56d05 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Ddc 33 34 32 |
|
OneToMany | |
CG30446 34 |
|
|
|||
CG30445 34 |
|
|
|||
Hdc 34 |
|
|
|||
amd 33 34 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009091 32 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | tdc-1 34 |
|
|
|
bas-1 33 |
|
OneToMany | |||
ZK829.2 34 |
|
|
|||
basl-1 33 |
|
OneToMany | |||
C05D2.3 34 |
|
|
|||
F12A10.3 34 |
|
|
|||
thale cress (Arabidopsis thaliana) |
eudicotyledons | AT2G20340 32 |
|
||
rice (Oryza sativa) |
Liliopsida | Os07g0437500 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
-- 33 |
|
OneToMany | |||
bread mold (Neurospora crassa) |
Ascomycetes | NCU08275 32 |
|
SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11575290 | conflicting-interpretations-of-pathogenicity, Deficiency of aromatic-L-amino-acid decarboxylase | 50,543,990(-) | G/A/T | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant | |
rs11575292 | likely-benign, not provided, - | 50,543,903(-) | C/A/T | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant | |
rs11575302 | likely-benign, Deficiency of aromatic-L-amino-acid decarboxylase | 50,539,996(-) | G/A | coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant, upstream_transcript_variant | |
rs11575542 | likely-benign, Deficiency of aromatic-L-amino-acid decarboxylase, - | 50,463,289(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
rs11575551 | likely-benign, Deficiency of aromatic-L-amino-acid decarboxylase | 50,458,565(-) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_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 |
|
|
oculogyric crisis |
|
|
autoimmune polyendocrine syndrome |
|
|