Version 5.4
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
IDBP-16600
dopa decarboxylase (aromatic L-amino acid decarboxylase)
IDBP-16602
dopa decarboxylase (aromatic L-amino acid decarboxylase)
IDBP-375271
dopa decarboxylase (aromatic L-amino acid decarboxylase)
IDBP-375273
dopa decarboxylase (aromatic L-amino acid decarboxylase)
IDBP-375276
dopa decarboxylase (aromatic L-amino acid decarboxylase)
IDBP-375279
dopa decarboxylase (aromatic L-amino acid decarboxylase)
IDBP-375281
dopa decarboxylase (aromatic L-amino acid decarboxylase)
IDBP-375286
dopa decarboxylase (aromatic L-amino acid decarboxylase)
IDBP-807683
dopa decarboxylase (aromatic L-amino acid decarboxylase)
IDBP-807685
dopa decarboxylase (aromatic L-amino acid decarboxylase)
IDBP-807686
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
ENSMUSG00000020182
View Gene Order
ENSBTAG00000020869
Not yet available
Pathways
NETPATH
NetPath_2
AndrogenReceptor pathway
REACTOME
REACT_15551
Catecholamine biosynthesis pathway
REACT_15439
Serotonin and melatonin biosynthesis pathway
REACT_15513
Amine-derived hormones pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_111217
Metabolism pathway
KEGG
hsa00340
Histidine metabolism pathway
hsa00360
Phenylalanine metabolism pathway
hsa00380
Tryptophan metabolism pathway
hsa00350
Tyrosine metabolism pathway
INOH
INOH website
Tryptophan degradation pathway
INOH website
Phenylalanine degradation pathway
INOH website
Tyrosine metabolism pathway
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

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca