InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DDC

Summary

InnateDB Protein

IDBP-375271.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DDC

Protein Name

dopa decarboxylase (aromatic L-amino acid decarboxylase)

Synonyms

AADC;

Species

Homo sapiens

Ensembl Protein

ENSP00000403644

InnateDB Gene

IDBG-16596 (DDC)

Protein Structure

UniProt Annotation

Function

Catalyzes the decarboxylation of L-3,4- dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine.

Subcellular Localization

Disease Associations

Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]: 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. {ECO:0000269PubMed:14991824, ECO:0000269PubMed:15079002, ECO:0000269Ref.11}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001597 Aromatic amino acid beta-eliminating lyase/threonine aldolase
IPR002129 Pyridoxal phosphate-dependent decarboxylase
IPR010977 Aromatic-L-amino-acid decarboxylase
IPR015424 Pyridoxal phosphate-dependent transferase

PFAM

PF01212
PF00282

PRINTS

PR00800

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P20711