Homo sapiens Gene: DDC
Summary
InnateDB Gene IDBG-16596.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DDC
Gene Name dopa decarboxylase (aromatic L-amino acid decarboxylase)
Synonyms AADC;
Species Homo sapiens
Ensembl Gene ENSG00000132437
Encoded Proteins
dopa decarboxylase (aromatic L-amino acid decarboxylase)
dopa decarboxylase (aromatic L-amino acid decarboxylase)
dopa decarboxylase (aromatic L-amino acid decarboxylase)
dopa decarboxylase (aromatic L-amino acid decarboxylase)
dopa decarboxylase (aromatic L-amino acid decarboxylase)
dopa decarboxylase (aromatic L-amino acid decarboxylase)
dopa decarboxylase (aromatic L-amino acid decarboxylase)
dopa decarboxylase (aromatic L-amino acid decarboxylase)
dopa decarboxylase (aromatic L-amino acid decarboxylase)
dopa decarboxylase (aromatic L-amino acid decarboxylase)
dopa decarboxylase (aromatic L-amino acid decarboxylase)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:50458436-50565457
Strand Reverse strand
Band p12.1
Transcripts
ENST00000357936 ENSP00000350616
ENST00000380984 ENSP00000370371
ENST00000444124 ENSP00000403644
ENST00000426377 ENSP00000395069
ENST00000444733 ENSP00000393724
ENST00000431062 ENSP00000399184
ENST00000430300 ENSP00000389422
ENST00000420203 ENSP00000408626
ENST00000495320
ENST00000494914
ENST00000489162
ENST00000615193 ENSP00000484104
ENST00000617822 ENSP00000478385
ENST00000622873 ENSP00000479110
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004058 aromatic-L-amino-acid decarboxylase activity
GO:0005515 protein binding
GO:0016597 amino acid binding
GO:0016829 lyase activity
GO:0016831 carboxy-lyase activity
GO:0019904 protein domain specific binding
GO:0030170 pyridoxal phosphate binding
Biological Process
GO:0006520 cellular amino acid metabolic process
GO:0007623 circadian rhythm
GO:0009636 response to toxic substance
GO:0010259 multicellular organismal aging
GO:0015842 synaptic vesicle amine transport
GO:0019752 carboxylic acid metabolic process
GO:0033076 isoquinoline alkaloid metabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0035690 cellular response to drug
GO:0042416 dopamine biosynthetic process
GO:0042423 catecholamine biosynthetic process
GO:0042427 serotonin biosynthetic process
GO:0044281 small molecule metabolic process
GO:0046219 indolalkylamine biosynthetic process
GO:0046684 response to pyrethroid
GO:0052314 phytoalexin metabolic process
GO:0071312 cellular response to alkaloid
GO:0071363 cellular response to growth factor stimulus
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0008021 synaptic vesicle
GO:0030424 axon
GO:0043025 neuronal cell body
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
AndrogenReceptor pathway
REACTOME
Serotonin and melatonin biosynthesis pathway
Amine-derived hormones pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
Catecholamine biosynthesis pathway
KEGG
Histidine metabolism pathway
Tyrosine metabolism pathway
Phenylalanine metabolism pathway
Tryptophan metabolism pathway
INOH
Tryptophan degradation pathway
Phenylalanine degradation pathway
Tyrosine metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.359698
RefSeq NM_000790 NM_001082971 NM_001242886 NM_001242887 NM_001242888 NM_001242889 NM_001242890 XM_005271745
HUGO
OMIM
CCDS CCDS5511 CCDS56485 CCDS56486 CCDS56487 CCDS75598 CCDS75599
HPRD 00145
IMGT
EMBL
GenPept
RNA Seq Atlas