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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 64
  • AADC 3 4
  • Aromatic-L-Amino-Acid Decarboxylase 3
  • DOPA Decarboxylase 4
  • EC 4.1.1 64

External Ids for DDC Gene

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 aromatic amino acid decarboxylase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein domain specific binding and amino acid 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

  • 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.

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

Genomics for DDC Gene

Genomic Location for DDC Gene

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

Regulatory Elements 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

Domains for DDC Gene

Gene Families for DDC Gene

UniProtKB/Swiss-Prot:

DDC_HUMAN
Family:
  • Belongs to the group II decarboxylase family.:
    • P20711
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:0016829 lyase activity --
GO:0016831 carboxy-lyase activity --
genes like me logo Genes that share ontologies with DDC: view
genes like me logo Genes that share phenotypes with DDC: view

No data available for Animal Models , miRNA , Transcription Factor Targeting 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 4
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

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

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

Compounds for DDC Gene

(2) Tocris Compounds for DDC Gene

Compound Action Cas Number
DFMO Ornithine decarboxylase inhibitor [70052-12-9]
L-(-)-alpha-Methyldopa Aromatic L-amino acid decarboxylase inhibitor [555-30-6]

(18) HMDB Compounds for DDC Gene

Compound Synonyms Cas Number PubMed IDs
1,2-Dehydrosalsolinol
  • 3,4-dihydro-1-methyl-6,7-Isoquinolinediol
4602-81-7
1-Phenylethylamine
  • a-phenylethylamine
98-84-0
5-Hydroxykynurenamine
  • 5-Hydroxykynuramine
708-23-6
5-Hydroxy-L-tryptophan
  • (+-)-5-Hydroxytryptophan
4350-09-8
Carbon dioxide
  • Carbon oxide
124-38-9

(1) Drugbank Compounds for DDC Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor

(48) Novoseek inferred chemical compound relationships for DDC Gene

Compound -log(P) Hits PubMed IDs
l-amino acid 98.4 183
levodopa 90.3 120
vanillactic acid 88.4 1
carbidopa 85.9 18
entacapone 85 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:

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 (21.0), Small Intestine - Terminal Ileum (8.6), Colon - Transverse (7.2), and Liver (6.6).

Integrated Proteomics: protein expression 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 expressions with DDC: view

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 36
  • 99.51 (n)
  • 99.58 (a)
DDC 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DDC 36
  • 85.04 (n)
  • 88.73 (a)
DDC 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDC 36
  • 84.17 (n)
  • 87.29 (a)
DDC 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddc 36
  • 83.96 (n)
  • 89.37 (a)
Ddc 16
Ddc 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DDC 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DDC 37
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddc 36
  • 84.72 (n)
  • 88.54 (a)
chicken
(Gallus gallus)
Aves DDC 36
  • 73.52 (n)
  • 77.36 (a)
DDC 37
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DDC 37
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddc 36
  • 68.89 (n)
  • 74.38 (a)
Str.8146 36
zebrafish
(Danio rerio)
Actinopterygii ddc 36
  • 69.68 (n)
  • 72.48 (a)
ddc 37
  • 72 (a)
OneToOne
wufa56d05 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009091 36
  • 61.43 (n)
  • 61.01 (a)
fruit fly
(Drosophila melanogaster)
Insecta amd 37
  • 42 (a)
OneToMany
Ddc 36
  • 61.96 (n)
  • 61.05 (a)
Ddc 37
  • 56 (a)
OneToMany
Ddc 38
  • 60 (a)
CG30446 38
  • 54 (a)
Hdc 38
  • 53 (a)
CG30445 38
  • 54 (a)
amd 38
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea bas-1 37
  • 40 (a)
OneToMany
basl-1 37
  • 36 (a)
OneToMany
F12A10.3 38
  • 34 (a)
ZK829.2 38
  • 39 (a)
tdc-1 38
  • 55 (a)
C05D2.3 38
  • 36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G20340 36
  • 53.12 (n)
  • 50.75 (a)
rice
(Oryza sativa)
Liliopsida Os07g0437500 36
  • 53.55 (n)
  • 49.46 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08275 36
  • 49.9 (n)
  • 41.72 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 48 (a)
OneToMany
-- 37
  • 49 (a)
OneToMany
-- 37
  • 50 (a)
OneToMany
-- 37
  • 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

Selected 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 reference, missense
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

Relevant External Links for DDC Gene

HapMap Linkage Disequilibrium report
DDC
Human Gene Mutation Database (HGMD)
DDC
Locus Specific Mutation Databases (LSDB)
DDC

Disorders for DDC Gene

(1) OMIM Diseases for DDC Gene (107930)

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.

(2) University of Copenhagen DISEASES for DDC Gene

(33) Novoseek inferred disease relationships for DDC Gene

Disease -log(P) Hits PubMed IDs
apeced 83.3 20
parkinson disease 77.2 28
addisons disease 56.1 6
neuroepithelioma 50.8 1
hypotension orthostatic 46.3 1

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
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 23
  2. 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 23
  3. 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 23
  4. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. (PMID: 15079002) Pons R. … De Vivo D.C. (Neurology 2004) 3 4 23
  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 23

Products for DDC Gene

  • Addgene plasmids for DDC

Sources for DDC Gene

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