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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DDC Gene

protein-coding GIFtS: 72
GCID: GC07M050526

dopa decarboxylase (aromatic L-amino acid decarboxylase)

Explore 68 diseases affiliated with
DDC via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase)¹ ²
AADC¹ ² ³
EC 4.1.1.28³ ⁸
Aromatic-L-Amino-Acid Decarboxylase²
DOPA Decarboxylase³
EC 4.1.1⁸

External Ids:	HGNC: 2719¹	Entrez Gene: 1644²	Ensembl: ENSG00000132437⁷	OMIM: 107930⁵	UniProtKB: P20711³

Export aliases for DDC gene to outside databases

Previous GC identifers: GC07M049990 GC07M050233 GC07M050267 GC07M050300 GC07M050493 GC07M050377

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DDC:

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)

UniProtKB/Swiss-Prot: DDC_HUMAN, P20711

Function: Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to

serotonin and L-tryptophan to tryptamine

summary for DDC:

L-aromatic amino-acid decarboxylase (AADC) (EC: 4.1.1.28) is involved in conversion of L-dopa to dopamine and

5-HTP to serotonin.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_033968.6 NT_079592.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DDC gene promoter:
SRF HNF-1 SRF (504 AA) NRSF form 1 NRSF form 2 HNF-1A
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DDC promoter sequence

Search SABiosciences Chromatin IP Primers for DDC

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DDC

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p12.2 Ensembl cytogenetic band: 7p12.1 HGNC cytogenetic band: 7p12.1

DDC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDC gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M050526: view genomic region (about GC identifiers)

Start:	50,526,134 bp from pter	End:	50,633,154 bp from pter
Size:	107,021 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 50,532,205-50,639,203

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DDC_HUMAN, P20711 (See protein sequence)

Recommended Name: Aromatic-L-amino-acid decarboxylase

Size: 480 amino acids; 53926 Da

Cofactor: Pyridoxal phosphate

Subunit: Homodimer

3 PDB 3D structures from and Proteopedia for DDC:

3RBF (3D)

3RBL (3D)

3RCH (3D)

Secondary accessions: Q16723 Q75MJ6

Explore the universe of human proteins at neXtProt for DDC: NX_P20711

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P20711

4/16 DME Specific Peptides for DDC (P20711) (see all 16)

GGGVIQG

RRFRSLK

HVDAAYAG

SPACTELE

DDC Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (7 alternative transcripts):

NP_000781.1 NP_001076440.1 NP_001229815.1 NP_001229816.1 NP_001229817.1 NP_001229818.1 NP_001229819.1

ENSEMBL proteins:

ENSP00000350616 ENSP00000399184 ENSP00000393724 ENSP00000395069 ENSP00000403644

ENSP00000389422 ENSP00000370371 ENSP00000408626 ENSP00000394094

Reactome Protein details: P20711
Human Recombinant Protein Products for DDC:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for DDC (Dopa Decarboxylase/DDC)
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	OriGene Purified Proteins (see all 2): DDC OriGene Protein Over-expression Lysate (see all 2): DDC OriGene Custom Protein Services for DDC
	GenScript Custom Purified and Recombinant Proteins Services for DDC
	Novus Biologicals DDC Proteins Novus Biologicals DDC Lysates
	Sino Biological Recombinant Protein for DDC
	ProSpec Recombinant Protein for DDC
	Uscn Proteins for DDC

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005737	cytoplasm	--	--
GO:0005829	cytosol	TAS	--
GO:0008021	synaptic vesicle	IEA	--
GO:0030424	axon	IEA	--

DDC for ontologies About GeneDecksing

DDC Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of DDC
	R&D Systems Antibodies for DDC (Dopa Decarboxylase/DDC)
	Cell Signaling Technology (CST) Antibodies for DDC
	OriGene Antibodies (see all 2): DDC OriGene Custom Antibody Services for DDC
	GenScript Custom Superior Antibodies Services for DDC
	Novus Biologicals DDC Antibodies
	Abcam antibodies for DDC
	Uscn Antibodies for DDC
	ThermoFisher Antibody for DDC

Assay Products for DDC:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DDC
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DDC

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DDC for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR002129 PyrdxlP-dep_de-COase

IPR021115 Pyridoxal-P_BS

IPR010977 Aromatic_deC

IPR015422 PyrdxlP-dep_Trfase_major_sub2

IPR015424 PyrdxlP-dep_Trfase

Graphical View of Domain Structure for InterPro Entry P20711

ProtoNet protein and cluster: P20711

2 Blocks protein families:

IPB002129 Pyridoxal-dependent decarboxylase

IPB010977 Aromatic-L-amino-acid decarboxylase

UniProtKB/Swiss-Prot: DDC_HUMAN, P20711

Similarity: Belongs to the group II decarboxylase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DDC_HUMAN, P20711

Function: Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to

serotonin and L-tryptophan to tryptamine

Catalytic activity: L-dopa = dopamine + CO(2)

Catalytic activity: 5-hydroxy-L-tryptophan = 5-hydroxytryptamine + CO(2)

Genatlas biochemistry entry for DDC:

DOPA decarboxylase,aromatic L-amino acid decarboxylase

Enzyme Numbers (IUBMB): EC 4.1.1.28¹ ² EC 4.1.1²

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004058	aromatic-L-amino-acid decarboxylase activity	TAS	--
GO:0005515	protein binding	IPI	12864730
GO:0016597	amino acid binding	IEA	--
GO:0016831	carboxy-lyase activity	--	--
GO:0019904	protein domain specific binding	IEA	--

DDC for ontologies About GeneDecksing

Phenotypes:
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ddc):

cardiovascular system	cellular	homeostasis/metabolism	immune system	mortality/aging
nervous system	renal/urinary system

DDC for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DDC

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DDC
		1 QIAGEN miScript miRNA Assays for microRNA that regulate DDC:
		hsa-miR-3065-5p
		SwitchGear 3'UTR luciferase reporter plasmid: DDC 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DDC (see all 7) OriGene shRNA RFP: DDC OriGene siRNA: DDC
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DDC
		Sirion Biotech Custom design and validation of potent shRNA sequences against DDC

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for DDC
			Sirion Biotech Customized adenovirus for overexpression of DDC Sirion Biotech Customized adenovirus for potent knockdown of DDC

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DDC (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DDC (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): DDC (NM_000790)
		Sino Biological Human cDNA Clone for DDC
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDC
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDC

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DDC
		Search LifeMap BioReagents cell lines for DDC
		Sirion Biotech Customized stable knockdown cell line services for DDC Sirion Biotech Customized inducible knockdown cell line services for DDC Sirion Biotech Customized stable overexpressing cell line services for DDC Sirion Biotech Customized inducible overexpressing cell line services for DDC

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDC

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Tyrosine metabolism

	Tyrosine metabolism	1.00			Tyrosine metabolism p.1 (dopamine)	0.28
	Phenylalanine metabolism	0.35			Tyrosine metabolism p.1 (dopamine)	0.28

Regulation of thyroid hormone activity

	Amine-derived hormones	0.21			Serotonin and melatonin biosynthesis	0.00
	serotonin and melatonin biosynthesis	0.00			Biogenic Amine Synthesis	0.00

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

1.00

Nicotine Activity on Dopaminergic Neurons

0.44

Tryptophan metabolism

Tryptophan metabolism

1.00

Tryptophan metabolism

0.47

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for DDC

Tyrosine metabolism p.1 (dopamine)

1 Cell Signaling Technology (CST) Pathway for DDC

Neuroscience

1 GeneGo (Thomson Reuters) Pathway for DDC

Tyrosine metabolism p.1 (dopamine)

5/8 BioSystems Pathways for DDC (see all 8)

	Parkinsons Disease Pathway
	Nicotine Activity on Dopaminergic Neurons
	SIDS Susceptibility Pathways
	Biogenic Amine Synthesis
	tryptophan degradation X (mammalian, via tryptamine)

5 Reactome Pathways for DDC

	Catecholamine biosynthesis
	Amine-derived hormones
	Serotonin and melatonin biosynthesis
	Metabolism
	Metabolism of amino acids and derivatives

4 PharmGKB Pathways for DDC

	Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
	Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics
	Sympathetic Nerve Pathway (Neuroeffector Junction)
	Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)

5 Kegg Pathways (Kegg details for DDC):

	Histidine metabolism
	Tyrosine metabolism
	Phenylalanine metabolism
	Tryptophan metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: DDC_HUMAN, P20711

Pathway: Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 2/2

DDC for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DDC

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/44 Interacting proteins for DDC (P20711^{1, 3} ENSP00000350616⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AR	P10275¹^,³, ENSP00000363822⁴	EBI-1632155,EBI-608057 I2D: score=2 STRING: ENSP00000363822
TH	P07101³, ENSP00000370571⁴	I2D: score=1 STRING: ENSP00000370571
CSNK2A1	P68400³	I2D: score=2
EEF1A1	P68104³	I2D: score=2
KIF5B	P33176³	I2D: score=2

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

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 toxin	--	--
GO:0010259	multicellular organismal aging	IEA	--
GO:0015842	synaptic vesicle amine transport	IEA	--

DDC for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DDC for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for DDC

Compounds for DDC available from Tocris Bioscience About this table

Compound	Action	CAS #
L-(-)-alpha-Methyldopa	Aromatic L-amino acid decarboxylase inhibitor	[555-30-6]
(S)-(-)-Carbidopa	Aromatic L-amino acid decarboxylase inhibitor	[28860-95-9]

10/18 HMDB Compounds for DDC (see all 18) About this table

Compound	Synonyms	CAS #	PubMed Ids
1,2-Dehydrosalsolinol	3,4-dihydro-1-methyl-6,7-Isoquinolinediol (see all 2)	4602-81-7	--
1-Phenylethylamine	a-phenylethylamine (see all 17)	98-84-0	--
5-Hydroxy-L-tryptophan	(+-)-5-Hydroxytryptophan (see all 21)	4350-09-8	--
5-Hydroxykynurenamine	5-Hydroxykynuramine (see all 3)	708-23-6	--
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
DL-Dopa	2-Amino-3-(3,4-dihydroxyphenyl)propanoate (see all 19)	63-84-3	--
Dopamine	2-(3,4-Dihydroxyphenyl)ethylamine (see all 22)	62-31-7	--
Histamine	1H-Imidazole-4-ethanamine (see all 27)	51-45-6	--
Hydroxykynurenine	3-(3-hydroxyanthraniloyl)-Alanine (see all 7)	484-78-6	--
L-Dopa	(-)-Dopa (see all 58)	59-92-7	--

1 DrugBank Compound for DDC About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Pyridoxal Phosphate	Codecarboxylase (see all 9)	54-47-7	target	cofactor	11709201 11085948 12679420 15070923 15965967

10/48 Novoseek chemical compound relationships for DDC gene (see all 48) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
l-amino acid	98.4	413	1357595 (4), 16876014 (3), 9309516 (3), 9924972 (3) (see all 99)
levodopa	90.3	231	11144954 (5), 10439935 (4), 10569946 (4), 9633680 (3) (see all 91)
vanillactic acid	88.4	1	16288991 (1)
carbidopa	85.9	22	10934669 (2), 7475917 (1), 9633680 (1), 19922897 (1) (see all 17)
entacapone	85	17	10439935 (3), 19039224 (1), 19570145 (1), 15907741 (1) (see all 7)
3-hydroxybenzylhydrazine	84.7	8	8783276 (1), 10411985 (1), 17437548 (1), 8095975 (1) (see all 8)
dopamine	83.3	248	10877910 (3), 1350071 (3), 10821639 (3), 8458598 (2) (see all 99)
l-dops	82.4	3	17214596 (1), 12169865 (1), 8836986 (1)
benserazide	81.6	13	7475917 (1), 9633680 (1), 11459076 (1), 19922897 (1) (see all 12)
dl-threo-dihydroxyphenylserine	80.4	2	8486891 (1), 2217667 (1)

Search CenterWatch for drugs/clinical trials and news about DDC

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DDC gene (7 alternative transcripts):

NM_000790.3 NM_001082971.1 NM_001242886.1 NM_001242887.1 NM_001242888.1 NM_001242889.1 NM_001242890.1

Unigene Cluster for DDC:

Dopa decarboxylase (aromatic L-amino acid decarboxylase)

Hs.359698 [show with all ESTs]

Unigene Representative Sequence: NM_001082971

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000357936(uc003tpf.4 uc022adb.1 uc022adc.1 uc022add.1 uc022ade.1)

ENST00000431062 ENST00000444733 ENST00000426377 ENST00000495320 ENST00000444124(uc003tpg.4)

ENST00000430300 ENST00000494914 ENST00000380984(uc022adf.1) ENST00000489162

ENST00000420203 ENST00000432526

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DDC
		1 QIAGEN miScript miRNA Assays for microRNA that regulate DDC:
		hsa-miR-3065-5p
		SwitchGear 3'UTR luciferase reporter plasmid: DDC 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DDC (see all 7) OriGene shRNA RFP: DDC OriGene siRNA: DDC
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DDC
		Sirion Biotech Custom design and validation of potent shRNA sequences against DDC

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DDC (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DDC (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): DDC (NM_000790)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDC
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDC

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DDC Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DDC
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DDC
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DDC

Additional cDNA sequence:

AJ310724.1 AK298321.1 AK298392.1 BC000485.1 BC008366.1 BT007009.1 CR456724.1 M76180.1

M88700.1

12 DOTS entries:

DT.100746972 DT.75124942 DT.91717614 DT.121106040 DT.100759329 DT.121106025 DT.40245842 DT.101981525

DT.100746974 DT.100701656 DT.75124943 DT.86844598

24/116 AceView cDNA sequences (see all 116):

CA396773 CD013936 BM692558 CB121989 CR623782 BI765169 BM852976 BT007009

BQ638460 CR612794 CK903649 AI651192 CD013937 AI291396 NM_000790 CD013935

BC008366 AW026053 CD013934 CD013938 BI963083 BC000485 AA341220 AW247121

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DDC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGCTAAATG

About this image

DDC expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/14 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 14)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Substantia Nigra pars Compacta

Adult Dopaminergic Neurons

Selective marker (cell-identifying gene)

Dopaminergic neurons

Brain

Substantia Nigra pars Compacta

Dopaminergic Progenitor Cells

Dopaminergic neurons

Brain

Substantia Nigra pars Compacta

Embryonic Dopaminergic Neurons

Dopaminergic neurons

Brain

Ventral Tegmental Area

Adult Dopaminergic Neurons

Dopaminergic neurons

Brain

Ventral Tegmental Area

Dopaminergic Progenitor Cells

Dopaminergic neurons

Brain

Ventral Tegmental Area

Embryonic Dopaminergic Neurons

Dopaminergic neurons

Eye

Ganglion Cell Layer

Dopaminergic Amacrine Cells

Amacrine, Retina

Eye

Inner Nuclear Layer

Dopaminergic Amacrine Cells

Amacrine, Retina

Eye

Ganglion Cell Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Eye

Inner Nuclear Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

Midbrain dopaminergic-like neurons (Derivation of functi...)

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See DDC Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DDC

SOURCE GeneReport for Unigene cluster: Hs.359698

SABiosciences Expression via Pathway-Focused PCR Arrays including DDC:

Parkinson's Disease in human mouse rat

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Amino Acid Metabolism I in human mouse rat

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDC gene from 8/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DDC¹	dopa decarboxylase (aromatic L-amino acid decarboxylase)	73.53(n) 77.52(a)		420947 XM_419032.3 XP_419032.3
lizard (Anolis carolinensis)	Reptilia	DDC⁶	--	74(a)	1 ↔ 1	6(54418480-54465978)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.8146²	Transcribed sequence with moderate similarity to protein more	77.19(n)		CF151014.1
zebrafish (Danio rerio)	Actinopterygii	wufa56d05²	Danio rerio cDNA clone MGC65801 IMAGE6791927, complete more	77.05(n)		BC056292.1
fruit fly (Drosophila melanogaster)	Insecta	Ddc^{1 , 3}	dopamine biosynthesis from tyrosine aromatic-L-amino more³ Dopa decarboxylase¹	60(a) (best of 5)³ 61.61(n)¹ 61.05(a)¹		2 37C1³ 35190¹ NM_165279.1¹ NP_724163.1¹
worm (Caenorhabditis elegans)	Secernentea	tdc-1³	aromatic-L-amino-acid decarboxylase	55(a) (best of 4)		II(8270530-8273464) --
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G20340¹	Tyrosine decarboxylase 1	53.12(n) 50.75(a)		816553 NM_179668.1 NP_849999.1
rice (Oryza sativa)	Liliopsida	Os07g0437500¹	hypothetical protein	53.41(n) 49.46(a)		4343080 NM_001066044.1 NP_001059509.1

ENSEMBL Gene Tree for DDC (if available)
TreeFam Gene Tree for DDC (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for DDC gene

GAD1² HDC² GADL1² GAD2² CSAD²

3 SIMAP similar genes for DDC using alignment to 11 protein entries: DDC_HUMAN (see all proteins):

HDC CSAD pcap

DDC for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs71018472^1,2	C	--	50386793(+)	`AGTAGG/-AGACA`	6	--	int¹		1		NA	2
rs60046554^1,2	C	--	50473715(+)	`GTGCTC/-TGTTT`	7	--	int¹		1		NA	2
rs143709388^1,2		--	50525707(+)	`GTGAAC/TTTAAA`	6	--	ds500¹		0	--	--	--	--
rs148098333^1,2		--	50525727(+)	`AGTAAA/GTACCA`	6	--	ds500¹		0	--	--	--	--
rs4947511^1,2	C,F,H	--	50525873(+)	`ACCTCG/AATCTC`	6	--	ds500¹		9		NS EA NA WA	810
rs11575553^1,2	C,F,H	--	50526219(-)	`GTTCAC/TGCAAC`	6	--	ut3¹		18		NS EA NA	2398
rs139884111^1,2	C	--	50526488(+)	`TGATA-/TTTATT`	6	--	ut3¹		0	--	--	--	--
rs183241840^1,2		--	50526518(+)	`CAGATA/CTATCT`	6	--	ut3¹		0	--	--	--	--
rs187404471^1,2		--	50526524(+)	`TATCTC/GTCTTC`	6	--	ut3¹		0	--	--	--	--
rs141824349^1,2	C	--	50526550(+)	`CAGGG-/AAAAAA`	6	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DDC (50526134 - 50633154 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for DDC
1 CNV: 52241
Human Gene Mutation Database (HGMD): DDC

Locus Specific Mutation Databases (LSDB): DDC

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DDC for disorders           About GeneDecksing

OMIM gene information: 107930
OMIM disorders: 608643
UniProtKB/Swiss-Prot: DDC_HUMAN, P20711

Defects in DDC are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]. AADCD

deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine

deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia,

gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive

20/68 diseases for DDC (see all 68): About MalaCards

aromatic l-amino acid decarboxylase deficiency dopamine beta-hydroxylase deficiency supratentorial primitive neuroectodermal tumor attention deficit hyperactivity disorder

primitive neuroectodermal tumor age related macular degeneration human immunodeficiency virus infectious disease patent ductus arteriosus

postural hypotension peripheral nervous system disease orthostatic hypotension autoimmune polyendocrine syndrome

neuroectodermal tumors bipolar affective disorder autism spectrum disorder macular degeneration

nicotine dependence neuroepithelioma addison's disease paranoid schizophrenia

4 diseases from the University of Copenhagen DISEASES database for DDC:

Peripheral neuropathy Human immunodeficiency virus infectious disease Peripheral nervous system disease Parkinson's disease

10/33 Novoseek disease relationships for DDC gene (see all 33) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
apeced	83.3	34	8989249 (5), 17200166 (3), 10634424 (3), 9276443 (3) (see all 9)
parkinson disease	77.2	36	7893377 (3), 10392841 (3), 10439935 (2), 19828868 (2) (see all 21)
addisons disease	56.1	7	10634424 (3), 17200166 (2), 18088406 (1)
neuroepithelioma	50.8	1	8510497 (1)
hypotension orthostatic	46.3	1	2217667 (1)
parkinsonism	42.7	1	9710269 (1)
developmental delay	41.9	9	17240182 (1), 19231266 (1), 15079002 (1), 18754761 (1)
vitiligo	33.1	3	8989249 (1), 10634424 (1)
small cell lung cancer	30.8	2	8806108 (2)
hepatitis autoimmune	30.8	2	17200166 (1)

Genatlas disease: DDC

hypotonia,developmental delay and paroxysmal movements with oculogyric crises

Genetic Association Database (GAD): DDC
Human Genome Epidemiology (HuGE) Navigator: DDC (33 documents)

Export disorders for DDC gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DDC gene, integrated from 9 sources (see all 346):
(articles sorted by number of sources associating them with DDC)

Utopia: connect your pdf to the dynamic
world of online information

Human dopa decarboxylase: localization to human chromosome 7p11 and characterization of hepatic cDNAs. (PubMed id 1612608)^{1, 2, 3, 9} Scherer L.J.... Marsh L.J. (1992)
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. (PubMed id 15079002)^{1, 2, 9} Pons R.... De Vivo D.C. (2004)
Identification of a neuron-specific promoter of human aromatic L- amino acid decarboxylase gene. (PubMed id 8510497)^{1, 2, 9} Van Thai A.... Weber M.J. (1993)
Molecular cloning of genomic DNA and chromosomal assignment of the gene for human aromatic L-amino acid decarboxylase, the enzyme for catecholamine and serotonin biosynthesis. (PubMed id 1540578)^{1, 2, 9} Sumi-Ichinose C.... Nagatsu T. (1992)
Localisation of the gene for human aromatic L-amino acid decarboxylase (DDC) to chromosome 7p13-->p11 by in situ hybridisation. (PubMed id 1395716)^{1, 2, 9} Craig S.P.... Craig I.W. (1992)
No association between polymorphisms in the DDC gene and paranoid schizophrenia in a northern Chinese population. (PubMed id 15318031)^{1, 4} Zhang B....Shen Y. (2004)
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. (PubMed id 14991824)^{1, 2} Chang Y.T.... Hyland K. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Association study between two variants in the DOPA decarboxylase gene in bipolar and unipolar affective disorder. (PubMed id 12116187)^{1, 4} Jahnes E....Rietschel M. (2002)
Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PubMed id 10391209)^{1, 2} Cargill M....Lander E.S. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1644	HGNC: 2719	AceView: DDC	Ensembl:ENSG00000132437	euGenes: HUgn1644
ECgene: DDC	Kegg: 1644	H-InvDB: DDC

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DDC	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DDC
NIEHS-SNPs	http://egp.gs.washington.edu/data/ddc/
Wikipedia	http://en.wikipedia.org/wiki/Aromatic-L-amino-acid_decarboxylase

Intellectual Property for DDC gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DDC gene:
Search GeneIP for patents involving DDC

GeneCards and IP:
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dopa decarboxylase (aromatic L-amino acid decarboxylase)

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DDC Gene

dopa decarboxylase (aromatic L-amino acid decarboxylase)

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