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DDC Gene

protein-coding   GIFtS: 72
GCID: GC07M050526

Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase)

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase)1 2
AADC2 3
EC 4.1.1.283 8
Aromatic-L-Amino-Acid Decarboxylase2
DOPA Decarboxylase3
EC 4.1.18

External Ids:    HGNC: 27191   Entrez Gene: 16442   Ensembl: ENSG000001324377   OMIM: 1079305   UniProtKB: P207113   

Export aliases for DDC gene to outside databases

Previous GC identifers: GC07M049990 GC07M050233 GC07M050267 GC07M050300 GC07M050493 GC07M050377


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 amino acid decarboxylase deficiency, and postural hypotension. GO annotations related to this gene include amino acid binding and protein domain specific binding. An important paralog of this gene is GAD1.

UniProtKB/Swiss-Prot: DDC_HUMAN, P20711
Function: Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan
to serotonin and L-tryptophan to tryptamine

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.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DDC gene promoter:
         SRF   HNF-1   SRF (504 AA)   NRSF form 1   NRSF form 2   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DDC promoter sequence
   Search Chromatin IP Primers for DDC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DDC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p12.2   Ensembl cytogenetic band:  7p12.1   HGNC cytogenetic band: 7p12.1

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M050526:  view genomic region     (about GC identifiers)

Start:
50,526,134 bp from pter      End:
50,633,154 bp from pter
Size:
107,021 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 50,532,205-50,639,203     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DDC_HUMAN, P20711 (See protein sequence)
Recommended Name: Aromatic-L-amino-acid decarboxylase  
Size: 480 amino acids; 53926 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer
3 PDB 3D structures from and Proteopedia for DDC:
3RBF (3D)        3RBL (3D)        3RCH (3D)    
Secondary accessions: C9IYA0 E7ER62 E7EU95 Q16723 Q5W5T9 Q75MJ6
Alternative splicing: 4 isoforms:  P20711-1   P20711-2   P20711-3   P20711-4   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for DDC: NX_P20711

Explore proteomics data for DDC at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DDC (P20711) (see all 16)
     GGGVIQG  RRFRSLK  HVDAAYAG  SPACTELE 


    See DDC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_000781.1  NP_001076440.1  NP_001229815.1  NP_001229816.1  NP_001229817.1  NP_001229818.1  NP_001229819.1  

    ENSEMBL proteins: 
     ENSP00000350616   ENSP00000399184   ENSP00000393724   ENSP00000395069   ENSP00000403644  
     ENSP00000389422   ENSP00000370371   ENSP00000408626  
    Reactome Protein details: P20711

    DDC Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for DDC (Dopa Decarboxylase/DDC)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for DDC
    OriGene Protein Over-expression Lysate for DDC
    OriGene MassSpec for DDC
    OriGene Custom Protein Services for DDC
    GenScript Custom Purified and Recombinant Proteins Services for DDC
    Novus Biologicals DDC Proteins
    Novus Biologicals DDC Lysates
    Sino Biological Recombinant Protein for DDC
    Sino Biological Cell Lysate for DDC
    ProSpec Recombinant Protein for DDC
    Cloud-Clone Corp. Proteins for DDC

    DDC Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DDC
    R&D Systems Antibodies for DDC (Dopa Decarboxylase/DDC)
    Cell Signaling Technology (CST) Antibodies for DDC 
    OriGene Antibodies for DDC
    OriGene Custom Antibody Services for DDC
    Novus Biologicals DDC Antibodies
    Abcam antibodies for DDC
    Cloud-Clone Corp. Antibodies for DDC
    ThermoFisher Antibody for DDC
    LSBio Antibodies in human, mouse, rat for DDC

    DDC Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DDC
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DDC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DDC
    Cloud-Clone Corp. CLIAs for DDC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: L-Aromatic amino-acid decarboxylase
    Decarboxylases

    Selected InterPro protein domains (see all 6):
     IPR002129 PyrdxlP-dep_de-COase
     IPR021115 Pyridoxal-P_BS
     IPR010977 Aromatic_deC
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR015424 PyrdxlP-dep_Trfase

    Graphical View of Domain Structure for InterPro Entry P20711

    ProtoNet protein and cluster: P20711

    2 Blocks protein domains:
    IPB002129 Pyridoxal-dependent decarboxylase
    IPB010977 Aromatic-L-amino-acid decarboxylase


    UniProtKB/Swiss-Prot: DDC_HUMAN, P20711
    Similarity: Belongs to the group II decarboxylase family


    DDC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DDC_HUMAN, P20711
    Function: Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan
    to serotonin and L-tryptophan to tryptamine
    Catalytic activity: L-dopa = dopamine + CO(2)
    Catalytic activity: 5-hydroxy-L-tryptophan = 5-hydroxytryptamine + CO(2)

         Genatlas biochemistry entry for DDC:
    DOPA decarboxylase,aromatic L-amino acid decarboxylase

         Enzyme Numbers (IUBMB): EC 4.1.1.281 2 EC 4.1.12

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004058aromatic-L-amino-acid decarboxylase activity TAS--
    GO:0005515protein binding IPI12864730
    GO:0016597amino acid binding IEA--
    GO:0016829lyase activity ----
    GO:0016831carboxy-lyase activity ----
         
    DDC for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ddc):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  homeostasis/metabolism 
     immune system  mortality/aging  nervous system  renal/urinary system  vision/eye 

    DDC for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DDC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DDC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DDC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DDC

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat DDC using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate DDC:
    hsa-miR-3065-5p
    SwitchGear 3'UTR luciferase reporter plasmidDDC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DDC
    Predesigned siRNA for gene silencing in human, mouse, rat DDC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DDC

    Clone
    Products:
         
    OriGene clones in human, mouse for DDC (see all 10)
    OriGene ORF clones in mouse, rat for DDC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DDC (NM_000790)
    Sino Biological Human cDNA Clone for DDC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDC

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DDC
    Browse ESI BIO Cell Lines and PureStem Progenitors for DDC 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    extracellular2
    nucleus2
    cytoskeleton1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0008021synaptic vesicle IEA--
    GO:0030424axon IEA--
    GO:0043025neuronal cell body IEA--

    DDC for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DDC About   (see all 19)  
    See pathways by source

    SuperPathContained pathways About
    1Biogenic Amine Synthesis
    catecholamine biosynthesis0.00
    Catecholamine biosynthesis0.00
    Biogenic Amine Synthesis
    2Phenylalanine metabolism
    Phenylalanine metabolism0.36
    phenylalanine utilization0.33
    Tyrosine metabolism0.36
    3Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    4Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics0.44
    Nicotine Activity on Dopaminergic Neurons0.44
    5Metabolism
    Metabolism0.38
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for DDC
        Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for DDC
        Tyrosine metabolism p.1 (dopamine)

    Selected BioSystems Pathways for DDC (see all 12)
        Biogenic Amine Synthesis
    SIDS Susceptibility Pathways
    Nicotine Activity on Dopaminergic Neurons
    Parkinsons Disease Pathway
    catecholamine biosynthesis


    2 Reactome Pathways for DDC
        Catecholamine biosynthesis
    Serotonin and melatonin biosynthesis

    3 PharmGKB Pathways for DDC
        Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics
    Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction)

    Selected Kegg Pathways  (Kegg details for DDC) (see all 10):
        Histidine metabolism
    Tyrosine metabolism
    Phenylalanine metabolism
    Tryptophan metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: DDC_HUMAN, P20711
    Pathway: Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 2/2


    DDC for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DDC: 

              Parkinson's Disease in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Amino Acid Metabolism I in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DDC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DDC (P207111, 3 ENSP000003506164) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102751, 3, ENSP000003638224EBI-1632155,EBI-608057 I2D: score=2 STRING: ENSP00000363822
    THP071013, ENSP000003705714I2D: score=1 STRING: ENSP00000370571
    CSNK2A1P684003I2D: score=2 
    EEF1A1P681043I2D: score=2 
    KIF5BP331763I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process IEA--
    GO:0007623circadian rhythm IEA--
    GO:0009636response to toxic substance ----
    GO:0010259multicellular organismal aging IEA--
    GO:0015842synaptic vesicle amine transport IEA--

    DDC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for DDC
      Browse compounds at ApexBio 

    Compounds for DDC available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DFMOOrnithine decarboxylase inhibitor[70052-12-9]
    L-(-)-alpha-MethyldopaAromatic L-amino acid decarboxylase inhibitor[555-30-6]

    Selected HMDB Compounds for DDC (see all 18)    About this table
    CompoundSynonyms CAS #PubMed Ids
    1,2-Dehydrosalsolinol3,4-dihydro-1-methyl-6,7-Isoquinolinediol (see all 2)4602-81-7--
    1-Phenylethylaminea-phenylethylamine (see all 17)98-84-0--
    5-Hydroxy-L-tryptophan(+-)-5-Hydroxytryptophan (see all 21)4350-09-8--
    5-Hydroxykynurenamine5-Hydroxykynuramine (see all 3)708-23-6--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    DL-Dopa2-Amino-3-(3,4-dihydroxyphenyl)propanoate (see all 19)63-84-3--
    Dopamine2-(3,4-Dihydroxyphenyl)ethylamine (see all 22)62-31-7--
    Histamine1H-Imidazole-4-ethanamine (see all 27)51-45-6--
    Hydroxykynurenine3-(3-hydroxyanthraniloyl)-Alanine (see all 7)484-78-6--
    L-Dopa(-)-Dopa (see all 58)59-92-7--

    1 DrugBank Compound for DDC    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor11709201 11085948 12679420 15070923 15965967

    Selected Novoseek inferred chemical compound relationships for DDC gene (see all 48)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    l-amino acid 98.4 413 1357595 (4), 16876014 (3), 9309516 (3), 9924972 (3) (see all 99)
    levodopa 90.3 231 11144954 (5), 10439935 (4), 10569946 (4), 9633680 (3) (see all 91)
    vanillactic acid 88.4 1 16288991 (1)
    carbidopa 85.9 22 10934669 (2), 7475917 (1), 9633680 (1), 19922897 (1) (see all 17)
    entacapone 85 17 10439935 (3), 19039224 (1), 19570145 (1), 15907741 (1) (see all 7)
    3-hydroxybenzylhydrazine 84.7 8 8783276 (1), 10411985 (1), 17437548 (1), 8095975 (1) (see all 8)
    dopamine 83.3 248 10877910 (3), 1350071 (3), 10821639 (3), 8458598 (2) (see all 99)
    l-dops 82.4 3 17214596 (1), 12169865 (1), 8836986 (1)
    benserazide 81.6 13 7475917 (1), 9633680 (1), 11459076 (1), 19922897 (1) (see all 12)
    dl-threo-dihydroxyphenylserine 80.4 2 8486891 (1), 2217667 (1)



    DDC for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DDC gene (7 alternative transcripts): 
    NM_000790.3  NM_001082971.1  NM_001242886.1  NM_001242887.1  NM_001242888.1  NM_001242889.1  NM_001242890.1  

    Unigene Cluster for DDC:

    Dopa decarboxylase (aromatic L-amino acid decarboxylase)
    Hs.359698  [show with all ESTs]
    Unigene Representative Sequence: NM_001082971
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357936(uc003tpf.4 uc022adb.1 uc022adc.1 uc022add.1 uc022ade.1)
    ENST00000431062 ENST00000444733 ENST00000426377 ENST00000495320 ENST00000444124(uc003tpg.4)
    ENST00000430300 ENST00000494914 ENST00000380984(uc022adf.1) ENST00000489162
    ENST00000420203
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DDC using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate DDC:
    hsa-miR-3065-5p
    SwitchGear 3'UTR luciferase reporter plasmidDDC 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DDC
    Predesigned siRNA for gene silencing in human, mouse, rat DDC
    Clone
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    OriGene clones in human, mouse for DDC (see all 10)
    OriGene ORF clones in mouse, rat for DDC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DDC (NM_000790)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDC
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for DDC
    OriGene qSTAR qPCR primer pairs in human, mouse for DDC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DDC
      QuantiTect SYBR Green Assays in human, mouse, rat DDC
      QuantiFast Probe-based Assays in human, mouse, rat DDC

    Additional mRNA sequence: 

    AJ310724.1 AK298321.1 AK298392.1 BC000485.1 BC008366.1 BT007009.1 CR456724.1 M76180.1 
    M88700.1 

    12 DOTS entries:

    DT.100746972  DT.75124942  DT.91717614  DT.121106040  DT.100759329  DT.121106025  DT.40245842  DT.101981525 
    DT.100746974  DT.100701656  DT.75124943  DT.86844598 

    Selected AceView cDNA sequences (see all 116):

    AW026053 BC000485 BI963083 AI291396 AA341220 CA396773 CD013936 CB121989 
    BM692558 AI651192 CD013938 CD013937 CK903649 CR612794 BT007009 BQ638460 
    CR623782 BM852976 BI765169 BC008366 NM_000790 CD013934 CD013935 AI492925 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    DDC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCTAAATG
    DDC Expression
    About this image


    DDC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Neurons
             Dopaminergic Amacrine Cells Inner Nuclear Layer
             Dopaminergic neuron-like cells
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
             Midbrain tegmentum
             Dopaminergic neuron-like cells
     
     Dopaminergic Neurons (Nervous System)    fully expand to see all 6 entries
             Dopaminergic neuron-like cells
     
     Eye (Sensory Organs)    fully expand to see all 5 entries
             Dopaminergic Amacrine Cells Inner Nuclear Layer
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Diencephalon
    DDC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DDC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.359698
        Pathway & Disease-focused RT2 Profiler PCR Arrays including DDC: 
              Parkinson's Disease in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Amino Acid Metabolism I in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DDC gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddc1 , 5 dopa decarboxylase1, 5 83.96(n)1
    89.37(a)1
      11 (7.09 cM)5
    131951  NM_001190448.11  NP_001177377.11 
     118141015 
    chicken
    (Gallus gallus)
    Aves DDC1 dopa decarboxylase (aromatic L-amino acid decarboxylase) 73.52(n)
    77.36(a)
      420947  XM_419032.4  XP_419032.3 
    lizard
    (Anolis carolinensis)
    Reptilia DDC6
    dopa decarboxylase (aromatic L-amino acid decarbox...
    74(a)
    1 ↔ 1
    6(54416220-54482195)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.81462 Transcribed sequence with moderate similarity to protein more 77.19(n)    CF151014.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa56d052 Danio rerio cDNA clone MGC65801 IMAGE6791927, complete more 77.05(n)    BC056292.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ddc1 , 3 dopamine biosynthesis from tyrosine
    aromatic-L-amino more3
    Dopa decarboxylase1
    60(a)
    (best of 5)3
    61.96(n)1
    61.05(a)1
      2 37C13
    351901  NM_165279.11  NP_724163.11 
    worm
    (Caenorhabditis elegans)
    Secernentea tdc-13 aromatic-L-amino-acid decarboxylase 55(a)
    (best of 4)
      II(8270530-8273464)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G203401 AT2G20340 53.12(n)
    50.75(a)
      816553  NM_179668.1  NP_849999.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g04375001 Os07g0437500 53.55(n)
    49.46(a)
      4343080  NM_001066044.1  NP_001059509.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DDC gene
    GAD12  GADL12  HDC2  GAD22  CSAD2  
    3 SIMAP similar genes for DDC using alignment to 6 protein entries:     DDC_HUMAN (see all proteins):
    HDC    CSAD    pcap

    DDC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DDC (see all 2693)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0193094
    Aromatic L-amino-acid decarboxylase deficiency (AADCD)4--see VAR_0193092 G S mis40--------
    VAR_0461384
    Aromatic L-amino-acid decarboxylase deficiency (AADCD)4--see VAR_0461382 A V mis40--------
    VAR_0461414
    Aromatic L-amino-acid decarboxylase deficiency (AADCD)4--see VAR_0461412 A T mis40--------
    VAR_0461374
    Aromatic L-amino-acid decarboxylase deficiency (AADCD)4--see VAR_0461372 P H mis40--------
    VAR_0461444
    Aromatic L-amino-acid decarboxylase deficiency (AADCD)4--see VAR_0461442 L I mis40--------
    VAR_0461434
    Aromatic L-amino-acid decarboxylase deficiency (AADCD)4--see VAR_0461432 R Q mis40--------
    VAR_0461424
    Aromatic L-amino-acid decarboxylase deficiency (AADCD)4--see VAR_0461422 F L mis40--------
    VAR_0461404
    Aromatic L-amino-acid decarboxylase deficiency (AADCD)4--see VAR_0461402 S F mis40--------
    VAR_0461394
    Aromatic L-amino-acid decarboxylase deficiency (AADCD)4--see VAR_0461392 S R mis40--------
    rs132329001,2
    C--50386917(+) TATTTA/TAAAAA 6 -- int12Minor allele frequency- T:0.25NA WA 4

    HapMap Linkage Disequilibrium report for DDC (50526134 - 50633154 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for DDC:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678897CNV Deletion23128226
    nsv507390CNV Insertion20534489
    nsv516640CNV Loss19592680
    nsv888021CNV Loss21882294

    Human Gene Mutation Database (HGMD): DDC
    Locus Specific Mutation Databases (LSDB): DDC

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 107930   
    OMIM disorders: 608643  
    UniProtKB/Swiss-Prot: DDC_HUMAN, P20711
  • 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for DDC (see all 63):    
    About MalaCards
    aromatic amino acid decarboxylase deficiency    postural hypotension    dopamine beta-hydroxylase deficiency    peripheral nervous system disease
    autoimmune polyendocrine syndrome    paranoid schizophrenia    neuroepithelioma    supratentorial primitive neuroectodermal tumor
    addison's disease    nervous system disease    fabry disease    vitiligo
    angiomyolipoma    primitive neuroectodermal tumor    hyperinsulinism    phaeochromocytoma
    human immunodeficiency virus infectious disease    nicotine dependence    parkinson's disease    turner syndrome

    2 diseases from the University of Copenhagen DISEASES database for DDC:
    Parkinson's disease     Autoimmune polyendocrine syndrome

    DDC for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for DDC gene (see all 33)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    apeced 83.3 34 8989249 (5), 17200166 (3), 10634424 (3), 9276443 (3) (see all 9)
    parkinson disease 77.2 36 7893377 (3), 10392841 (3), 10439935 (2), 19828868 (2) (see all 21)
    addisons disease 56.1 7 10634424 (3), 17200166 (2), 18088406 (1)
    neuroepithelioma 50.8 1 8510497 (1)
    hypotension orthostatic 46.3 1 2217667 (1)
    parkinsonism 42.7 1 9710269 (1)
    developmental delay 41.9 9 17240182 (1), 19231266 (1), 15079002 (1), 18754761 (1)
    vitiligo 33.1 3 8989249 (1), 10634424 (1)
    small cell lung cancer 30.8 2 8806108 (2)
    hepatitis autoimmune 30.8 2 17200166 (1)

    Genatlas disease: DDC
    hypotonia,developmental delay and paroxysmal movements with oculogyric crises

    Genetic Association Database (GAD): DDC
    Human Genome Epidemiology (HuGE) Navigator: DDC (33 documents)

    Export disorders for DDC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DDC gene, integrated from 10 sources (see all 356):
    (articles sorted by number of sources associating them with DDC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human dopa decarboxylase: localization to human chromosome 7p11 and characterization of hepatic cDNAs. (PubMed id 1612608)1, 2, 3, 9 Scherer L.J.... Marsh L.J. (Genomics 1992)
    2. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. (PubMed id 15079002)1, 2, 9 Pons R.... De Vivo D.C. (Neurology 2004)
    3. Identification of a neuron-specific promoter of human aromatic L- amino acid decarboxylase gene. (PubMed id 8510497)1, 2, 9 Van Thai A.... Weber M.J. (Brain Res. Mol. Brain Res. 1993)
    4. 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. (PubMed id 1540578)1, 2, 9 Sumi-Ichinose C.... Nagatsu T. (Biochemistry 1992)
    5. Localisation of the gene for human aromatic L-amino acid decarboxylase (DDC) to chromosome 7p13-->p11 by in situ hybridisation. (PubMed id 1395716)1, 2, 9 Craig S.P.... Craig I.W. (Cytogenet. Cell Genet. 1992)
    6. Open conformation of human DOPA decarboxylase reveals the mechanism of PLP addition to Group II decarboxylases. (PubMed id 22143761)1, 2 Giardina G.... Cutruzzola F. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    7. Genetic associations of brain structural networks in schizophrenia: a preliminary study. (PubMed id 20691427)1, 4 Jagannathan K....Pearlson G.D. (Biol. Psychiatry 2010)
    8. Association study of the serotoninergic system in migraine in the Spanish population. (PubMed id 19455600)1, 4 Corominas R....Cormand B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1644 HGNC: 2719 AceView: DDC Ensembl:ENSG00000132437 euGenes: HUgn1644
    ECgene: DDC Kegg: 1644 H-InvDB: DDC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DDC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DDC Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DDC[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ddc/
    Wikipedia http://en.wikipedia.org/wiki/Aromatic-L-amino-acid_decarboxylase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DDC gene:
    Search GeneIP for patents involving DDC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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