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Aliases for DDC Gene

Aliases for DDC Gene

  • Dopa Decarboxylase 2 3
  • DOPA Decarboxylase 4 5
  • EC 4.1.1.28 4 61
  • AADC 3 4
  • Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) 3
  • Aromatic L-Amino Acid Decarboxylase 2
  • Aromatic-L-Amino-Acid Decarboxylase 3
  • EC 4.1.1 61

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) is a Protein Coding gene. Diseases associated with DDC include Aromatic L-Amino Acid Decarboxylase Deficiency and Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia. Among its related pathways are Metabolism and Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction). GO annotations related to this gene include enzyme binding and pyridoxal phosphate binding. An important paralog of this gene is HDC.

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

Enhancers for DDC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F050533 1.4 FANTOM5 Ensembl ENCODE 18.2 +30.7 30668 3.3 PKNOX1 ATF1 ARNT BRCA1 CBX5 GATA2 FOS ZNF263 JUNB NCOA1 FIGNL1 DDC DDC-AS1
GH07F050591 0.2 ENCODE 11.7 -26.3 -26256 1.3 ELF3 DMAP1 RAD21 RARA YY1 KAT8 SMARCA4 KLF16 CEBPA ZNF580 DDC GC07M050654
GH07F050598 0.7 Ensembl 11.3 -33.3 -33344 0.4 ZMYM3 DDC DDC-AS1 FIGNL1 GC07M050654
GH07F050667 1.1 Ensembl ENCODE 9.9 -102.5 -102539 1.3 HNF4G ZBTB33 NR2F2 GRB10 DDC PIR42465 PIR54882
GH07F050547 0.5 FANTOM5 6.9 +17.7 17673 0.2 GATAD2A TFE3 ZNF644 YY1 RARA TGIF2 SSRP1 ETV4 ZBTB33 CREM FIGNL1 DDC-AS1 DDC GRB10
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DDC on UCSC Golden Path with GeneCards custom track

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

Genes around DDC on UCSC Golden Path with GeneCards custom track

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

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)
  • Santa Cruz Biotechnology (SCBT) Antibodies for 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 IEA,TAS --
GO:0005515 protein binding IPI 12864730
GO:0016597 amino acid binding IEA --
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
genes like me logo Genes that share ontologies with DDC: view
genes like me logo Genes that share phenotypes with DDC: view

Human Phenotype Ontology for DDC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for DDC

miRNA for DDC Gene

miRTarBase miRNAs that target DDC

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
cytosol 5
extracellular 5
cytoskeleton 3
mitochondrion 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for DDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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

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 IEA --
GO:0010259 multicellular organism aging IEA --
GO:0015842 aminergic neurotransmitter loading into synaptic vesicle 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

(48) Drugs for DDC Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbidopa Approved Pharma Inhibition, Inhibitor, inhibitor, Target 177
Amantadine Approved Pharma Enzyme, inducer 67
Levodopa Approved Pharma Agonist, Enzyme 388
Cycloserine Approved Pharma Enzyme, inhibitor 106
Droxidopa Approved, Investigational Pharma Enzyme, substrate 28

(32) 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
720-00-3
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
Hydroxykynurenine
  • 3-(3-Hydroxyanthraniloyl)-Alanine
  • 3-Hydroxy-DL-kynurenine
  • 3-Hydroxy-Kynurenine
  • 3-Hydroxykynurenine
  • DL-3-Hydroxykynurenine
484-78-6

(2) Tocris Compounds for DDC Gene

Compound Action Cas Number
DFMO Ornithine decarboxylase inhibitor 68278-23-9
L-(-)-alpha-Methyldopa Aromatic L-amino acid decarboxylase inhibitor 555-30-6

(2) ApexBio Compounds for DDC Gene

Compound Action Cas Number
Benserazide HCl 0 14919-77-8
Carbidopa 28860-95-9
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:

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, MaxQB, and MOPED for DDC Gene



Protein tissue co-expression partners for DDC Gene

NURSA nuclear receptor signaling pathways regulating expression of DDC Gene:

DDC

SOURCE GeneReport for Unigene cluster for DDC Gene:

Hs.359698
genes like me logo Genes that share expression patterns with DDC: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia DDC 34 35
  • 99.51 (n)
cow
(Bos Taurus)
Mammalia DDC 34 35
  • 85.04 (n)
rat
(Rattus norvegicus)
Mammalia Ddc 34
  • 84.72 (n)
dog
(Canis familiaris)
Mammalia DDC 34 35
  • 84.17 (n)
mouse
(Mus musculus)
Mammalia Ddc 34 16 35
  • 83.96 (n)
oppossum
(Monodelphis domestica)
Mammalia DDC 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDC 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDC 34 35
  • 73.52 (n)
lizard
(Anolis carolinensis)
Reptilia DDC 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddc 34
  • 68.89 (n)
Str.8146 34
zebrafish
(Danio rerio)
Actinopterygii ddc 34 35
  • 69.68 (n)
wufa56d05 34
fruit fly
(Drosophila melanogaster)
Insecta Ddc 36 34 35
  • 61.96 (n)
CG30445 36
  • 54 (a)
CG30446 36
  • 54 (a)
Hdc 36
  • 53 (a)
amd 36 35
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009091 34
  • 61.43 (n)
worm
(Caenorhabditis elegans)
Secernentea tdc-1 36
  • 55 (a)
bas-1 35
  • 40 (a)
OneToMany
ZK829.2 36
  • 39 (a)
C05D2.3 36
  • 36 (a)
basl-1 35
  • 36 (a)
OneToMany
F12A10.3 36
  • 34 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G20340 34
  • 53.12 (n)
rice
(Oryza sativa)
Liliopsida Os07g0437500 34
  • 53.55 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
-- 35
  • 50 (a)
OneToMany
-- 35
  • 49 (a)
OneToMany
-- 35
  • 48 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU08275 34
  • 49.9 (n)
Species where no ortholog for DDC was found in the sources mined by GeneCards:
  • 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
rs137853207 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643], Pathogenic 50,539,926(-) GCATC(A/G)GCTTC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs137853208 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643], Pathogenic 50,504,025(-) CTGCT(C/T)CTTTG reference, missense
rs137853209 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643], Pathogenic 50,495,369(-) TGAAT(C/T)TTGAC reference, missense
rs137853210 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643], Pathogenic 50,529,339(-) AGGGA(A/C)GTGCC intron-variant, reference, missense
rs137853211 Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643], Pathogenic 50,539,958(-) GCTTG(C/T)GGACA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1286e214 CNV gain 21293372
esv2678897 CNV deletion 23128226
esv3613125 CNV loss 21293372
esv3613127 CNV gain 21293372
nsv1015758 CNV gain 25217958
nsv1016665 CNV gain 25217958
nsv1026081 CNV loss 25217958
nsv1114937 CNV deletion 24896259
nsv507390 OTHER sequence alteration 20534489
nsv516640 CNV loss 19592680
nsv606905 CNV loss 21841781

Variation tolerance for DDC Gene

Residual Variation Intolerance Score: 14.4% 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

Human Gene Mutation Database (HGMD)
DDC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDC

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

Disorders for DDC Gene

MalaCards: The human disease database

(16) 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
autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia
  • autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia
oculogyric crisis
autoimmune polyendocrine syndrome
  • autoimmune polyendocrinopathy
postural hypotension
- elite association - COSMIC cancer census association via MalaCards
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. Human dopa decarboxylase: localization to human chromosome 7p11 and characterization of hepatic cDNAs. (PMID: 1612608) Scherer L.J. … Marsh L.J. (Genomics 1992) 2 3 4 22 64
  2. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. (PMID: 15079002) Pons R. … De Vivo D.C. (Neurology 2004) 3 4 22 64
  3. Identification of a neuron-specific promoter of human aromatic L- amino acid decarboxylase gene. (PMID: 8510497) Van Thai A. … Weber M.J. (Brain Res. Mol. Brain Res. 1993) 3 4 22 64
  4. Localisation of the gene for human aromatic L-amino acid decarboxylase (DDC) to chromosome 7p13-->p11 by in situ hybridisation. (PMID: 1395716) Craig S.P. … Craig I.W. (Cytogenet. Cell Genet. 1992) 3 4 22 64
  5. 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. (PMID: 1540578) Sumi-Ichinose C. … Nagatsu T. (Biochemistry 1992) 3 4 22 64

Products for DDC Gene

Sources for DDC Gene

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