• Gene id: 1644

Gene Summary

• Gene Symbol: DDC   Gene   UCSC   Ensembl
• Aliases: AADC
• Gene name: dopa decarboxylase
• Alternate names: aromatic-L-amino-acid decarboxylase, dopa decarboxylase (aromatic L-amino acid decarboxylase),
• Gene location: 7p12.2-p12.1 (38453889: 38493141)     Exons: 14     NC_000003.12
• Gene summary(Entrez): 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 (
• OMIM: 107930

Protein Summary

• Protein general information: P20711  
  • Name: Aromatic L amino acid decarboxylase (AADC) (EC 4.1.1.28) (DOPA decarboxylase) (DDC)
  • Length: 480  
  • Mass: 53926
• Sequence:

  MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPY
  FFAYFPTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASE
  ATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEA
  LERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFN
  PHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQ
  AYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAI
  CSRTVESAHVQRAWEHIKELAADVLRAERE

• Structural information:
  • Interpro: IPR010977  IPR002129  IPR015424  IPR015422  IPR015421   IPR021115  
  • Prosite: PS00392
  • PDB: 3RBF 3RBL 3RCH
  • PDBsum: 3RBF 3RBL 3RCH
  • DIP: 40563
  • STRING: ENSP00000403644
• Other Databases: GeneCards:  DDC  Malacards:  DDC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036468	L-dopa decarboxylase activity	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006584	catecholamine metabolic process	IBA	biological process
GO:0004058	aromatic-L-amino-acid decarboxylase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0042427	serotonin biosynthetic process	IBA	biological process
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0019752	carboxylic acid metabolic process	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006520	cellular amino acid metabolic process	IEA	biological process
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0042423	catecholamine biosynthetic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0004058	aromatic-L-amino-acid decarboxylase activity	TAS	molecular function
GO:0004058	aromatic-L-amino-acid decarboxylase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042423	catecholamine biosynthetic process	TAS	biological process
GO:0046219	indolalkylamine biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0009636	response to toxic substance	IEA	biological process
GO:0071363	cellular response to growth factor stimulus	IEA	biological process
GO:0071312	cellular response to alkaloid	IEA	biological process
GO:0046684	response to pyrethroid	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0033076	isoquinoline alkaloid metabolic process	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0016597	amino acid binding	IEA	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0004058	aromatic-L-amino-acid decarboxylase activity	IEA	molecular function
GO:0052314	phytoalexin metabolic process	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042427	serotonin biosynthetic process	IEA	biological process
GO:0042416	dopamine biosynthetic process	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0015842	aminergic neurotransmitter loading into synaptic vesicle	IEA	biological process
GO:0010259	multicellular organism aging	IEA	biological process
GO:0007623	circadian rhythm	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004058	aromatic-L-amino-acid decarboxylase activity	IEA	molecular function
GO:0042416	dopamine biosynthetic process	IEA	biological process
GO:0004058	aromatic-L-amino-acid decarboxylase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05034	Alcoholism
hsa04728	Dopaminergic synapse
hsa04726	Serotonergic synapse
hsa05031	Amphetamine addiction
hsa05030	Cocaine addiction
hsa00350	Tyrosine metabolism
hsa00380	Tryptophan metabolism
hsa00360	Phenylalanine metabolism

Diseases

Associated diseases	References
Aromatic L-amino acid decarboxylase deficiency	KEGG:H01161
Aromatic L-amino acid decarboxylase deficiency	KEGG:H01161
Parkinson's disease	PMID:9853519
Hyperinsulinism	PMID:16403819
Bipolar disorder	PMID:12555230
inherited metabolic disorder	PMID:20505134
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq