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Aliases for DDC Gene

Aliases for DDC Gene

  • Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) 2 3
  • EC 4.1.1.28 4 63
  • AADC 3 4
  • DOPA Decarboxylase 4
  • EC 4.1.1 63

External Ids for DDC Gene

Previous GeneCards Identifiers for DDC Gene

  • GC07M049990
  • GC07M050233
  • GC07M050267
  • GC07M050300
  • GC07M050493
  • GC07M050526
  • GC07M050377

Summaries for DDC Gene

Entrez Gene Summary for DDC Gene

  • 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]

GeneCards Summary for DDC Gene

DDC (Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase)) is a Protein Coding gene. Diseases associated with DDC include aromatic l-amino acid decarboxylase deficiency and postural hypotension. Among its related pathways are Metabolism and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include enzyme binding and pyridoxal phosphate binding. An important paralog of this gene is GAD1.

UniProtKB/Swiss-Prot for DDC Gene

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

Tocris Summary for DDC Gene

  • Decarboxylases are a group of enzymes that remove carboxyl groups (CO2H) from acidic substrates and require either pyridoxal phosphate or pyruvate as a co-factor. Decarboxylases are known for their various roles in metabolic pathways and carbohydrate synthesis.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDC Gene

Genomics for DDC Gene

Regulatory Elements for DDC Gene

Genomic Location for DDC Gene

Chromosome:
7
Start:
50,458,436 bp from pter
End:
50,565,457 bp from pter
Size:
107,022 bases
Orientation:
Minus strand

Genomic View for DDC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DDC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDC Gene

Proteins for DDC Gene

  • Protein details for DDC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20711-DDC_HUMAN
    Recommended name:
    Aromatic-L-amino-acid decarboxylase
    Protein Accession:
    P20711
    Secondary Accessions:
    • C9IYA0
    • E7ER62
    • E7EU95
    • Q16723
    • Q5W5T9
    • Q75MJ6

    Protein attributes for DDC Gene

    Size:
    480 amino acids
    Molecular mass:
    53926 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for DDC Gene

    Alternative splice isoforms for DDC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDC Gene

Proteomics data for DDC Gene at MOPED

Post-translational modifications for DDC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for DDC (Dopa Decarboxylase/DDC)
  • Cell Signaling Technology (CST) Antibodies for DDC (DDC)

Domains & Families for DDC Gene

Gene Families for DDC Gene

Graphical View of Domain Structure for InterPro Entry

P20711

UniProtKB/Swiss-Prot:

DDC_HUMAN :
  • Belongs to the group II decarboxylase family.
Family:
  • Belongs to the group II decarboxylase family.
genes like me logo Genes that share domains with DDC: view

Function for DDC Gene

Molecular function for DDC Gene

GENATLAS Biochemistry:
DOPA decarboxylase,aromatic L-amino acid decarboxylase
UniProtKB/Swiss-Prot CatalyticActivity:
L-dopa = dopamine + CO(2)
UniProtKB/Swiss-Prot CatalyticActivity:
5-hydroxy-L-tryptophan = 5-hydroxytryptamine + CO(2)
UniProtKB/Swiss-Prot Function:
Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine

Enzyme Numbers (IUBMB) for DDC Gene

Gene Ontology (GO) - Molecular Function for DDC Gene

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:0019899 enzyme binding IPI 19703902
genes like me logo Genes that share ontologies with DDC: view
genes like me logo Genes that share phenotypes with DDC: view

Animal Model Products

miRNA for DDC Gene

miRTarBase miRNAs that target DDC

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DDC

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DDC Gene

Localization for DDC Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DDC Gene COMPARTMENTS Subcellular localization image for DDC gene
Compartment Confidence
extracellular 5
cytosol 4
cytoskeleton 2
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for DDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0008021 synaptic vesicle IEA --
GO:0030424 axon IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with DDC: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DDC Gene

Pathways & Interactions for DDC Gene

genes like me logo Genes that share pathways with DDC: view

PCR Array Products

UniProtKB/Swiss-Prot P20711-DDC_HUMAN

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

Gene Ontology (GO) - Biological Process for DDC Gene

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 toxic substance --
GO:0010259 multicellular organismal aging IEA --
GO:0015842 synaptic vesicle amine transport IEA --
genes like me logo Genes that share ontologies with DDC: view

No data available for SIGNOR curated interactions for DDC Gene

Drugs & Compounds for DDC Gene

(42) Drugs for DDC Gene - From: HMDB, DrugBank, NovoSeek, DGIdb, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbidopa Approved Pharma Inhibition, Inhibitor, inhibitor, Target 144
Amantadine Approved Pharma Enzyme, inducer 63
Levodopa Approved Pharma Agonist, Enzyme 339
Cycloserine Approved Pharma Enzyme, inhibitor 95
Droxidopa Approved, Investigational Pharma Enzyme, substrate 25

(34) Additional Compounds for DDC Gene - From: HMDB, NovoSeek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phenylethylamine
  • (1-Aminoethyl)benzene
  • 1-Amino-1-phenylethane
  • 1-Fenylethylamin
  • 1-Phenyl-1-ethanamine
  • 1-Phenylethanamine
98-84-0
5-Hydroxykynurenamine
  • 5-Hydroxykynuramine
  • Mausamine
  • Mousamine
708-23-6
5-Hydroxykynurenine
  • 5-Hydroxy-L-kynurenine
2208-41-5
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
DL-Dopa
  • (+/-) 3-(3,4-Dihydroxyphenyl)alanine
  • 2-Amino-3-(3,4-dihydroxyphenyl)propanoate
  • 2-Amino-3-(3,4-dihydroxyphenyl)propanoic acid
  • 3,4-Dihydroxy-DL-phenylalanine
  • 3,4-Dihydroxyphenylalanine
63-84-3
genes like me logo Genes that share compounds with DDC: view

Transcripts for DDC Gene

Unigene Clusters for DDC Gene

Dopa decarboxylase (aromatic L-amino acid decarboxylase):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DDC

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDC Gene

No ASD Table

Relevant External Links for DDC Gene

GeneLoc Exon Structure for
DDC
ECgene alternative splicing isoforms for
DDC

Expression for DDC Gene

mRNA expression in normal human tissues for DDC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DDC Gene

This gene is overexpressed in Kidney - Cortex (x21.0), Small Intestine - Terminal Ileum (x8.6), Colon - Transverse (x7.2), and Liver (x6.6).

Protein differential expression in normal tissues from HIPED for DDC Gene

This gene is overexpressed in Kidney (47.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DDC Gene



SOURCE GeneReport for Unigene cluster for DDC Gene Hs.359698

genes like me logo Genes that share expression patterns with DDC: view

Protein tissue co-expression partners for DDC Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for DDC Gene

Orthologs for DDC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DDC 35
  • 85.04 (n)
  • 88.73 (a)
DDC 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDC 35
  • 84.17 (n)
  • 87.29 (a)
DDC 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddc 35
  • 83.96 (n)
  • 89.37 (a)
Ddc 16
Ddc 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DDC 35
  • 99.51 (n)
  • 99.58 (a)
DDC 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddc 35
  • 84.72 (n)
  • 88.54 (a)
oppossum
(Monodelphis domestica)
Mammalia DDC 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDC 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDC 35
  • 73.52 (n)
  • 77.36 (a)
DDC 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DDC 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddc 35
  • 68.89 (n)
  • 74.38 (a)
Str.8146 35
zebrafish
(Danio rerio)
Actinopterygii ddc 35
  • 69.68 (n)
  • 72.48 (a)
wufa56d05 35
ddc 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta amd 37
  • 37 (a)
CG30445 37
  • 54 (a)
CG30446 37
  • 54 (a)
Ddc 37
  • 60 (a)
Hdc 37
  • 53 (a)
Ddc 35
  • 61.96 (n)
  • 61.05 (a)
amd 36
  • 42 (a)
OneToMany
Ddc 36
  • 56 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009091 35
  • 61.43 (n)
  • 61.01 (a)
worm
(Caenorhabditis elegans)
Secernentea C05D2.3 37
  • 36 (a)
F12A10.3 37
  • 34 (a)
tdc-1 37
  • 55 (a)
ZK829.2 37
  • 39 (a)
bas-1 36
  • 40 (a)
OneToMany
basl-1 36
  • 36 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G20340 35
  • 53.12 (n)
  • 50.75 (a)
rice
(Oryza sativa)
Liliopsida Os07g0437500 35
  • 53.55 (n)
  • 49.46 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08275 35
  • 49.9 (n)
  • 41.72 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
Species with no ortholog for DDC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DDC Gene

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

Paralogs for DDC Gene

Paralogs for DDC Gene

(3) SIMAP similar genes for DDC Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with DDC: view

Variants for DDC Gene

Sequence variations from dbSNP and Humsavar for DDC Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs3470 -- 50,491,268(+) taata(C/T)ggttt intron-variant
rs6262 - 50,528,222(-) CATCC(C/T)CTCAG reference, missense, intron-variant
rs6263 - 50,528,202(-) TCGCC(A/G)TGCGT reference, missense, intron-variant
rs6264 - 50,544,037(-) ATTAC(A/G)TGGCC missense, reference
rs730092 -- 50,468,056(+) AGGCC(C/G)GTGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DDC Gene

Variant ID Type Subtype PubMed ID
nsv888021 CNV Loss 21882294
nsv507390 CNV Insertion 20534489
nsv516640 CNV Loss 19592680
esv2678897 CNV Deletion 23128226

Variation tolerance for DDC Gene

Residual Variation Intolerance Score: 14.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DDC Gene

HapMap Linkage Disequilibrium report
DDC
Human Gene Mutation Database (HGMD)
DDC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDC Gene

Disorders for DDC Gene

MalaCards: The human disease database

(17) MalaCards diseases for DDC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
aromatic l-amino acid decarboxylase deficiency
  • aadc deficiency
postural hypotension
dopamine beta-hydroxylase deficiency
  • dopamine-beta-hydroxylase
autoimmune polyendocrine syndrome type 1
  • autoimmune polyglandular syndrome i
autoimmune polyendocrine syndrome
  • lloyd's syndrome
- elite association
Search DDC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DDC_HUMAN
  • 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:0000269 PubMed:14991824, ECO:0000269 PubMed:15079002, ECO:0000269 Ref.12}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for DDC Gene

hypotonia,developmental delay and paroxysmal movements with oculogyric crises

Relevant External Links for DDC

Genetic Association Database (GAD)
DDC
Human Genome Epidemiology (HuGE) Navigator
DDC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DDC
genes like me logo Genes that share disorders with DDC: view

Publications for DDC Gene

  1. Carbidopa pretreatment improves image interpretation and visualisation of carcinoid tumours with 11C-5-hydroxytryptophan positron emission tomography. (PMID: 16184369) Orlefors H. … BergstrAPm M. (Eur. J. Nucl. Med. Mol. Imaging 2006) 23 25 26 67
  2. L-Dihydroxyphenylserine (L-DOPS): a norepinephrine prodrug. (PMID: 17214596) Goldstein D.S. (Cardiovasc Drug Rev 2006) 23 25 26 67
  3. Variable absorption of carbidopa affects both peripheral and central levodopa metabolism. (PMID: 10934669) Durso R. … Browne T.R. (J Clin Pharmacol 2000) 23 25 26 67
  4. Amantadine increases aromatic L-amino acid decarboxylase mRNA in PC12 cells. (PMID: 9710269) Li X.M. … Boulton A.A. (J. Neurosci. Res. 1998) 23 25 26 67
  5. [The effect of droxidopa on the monoamine metabolsim in the human brain]. (PMID: 7834959) Maruyama W. … Narabayashi H. (Rinsho Shinkeigaku 1994) 23 25 26 67

Products for DDC Gene

  • Addgene plasmids for DDC

Sources for DDC Gene

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