Human Gene DDC (ENST00000444124.7) Description and Page Index
  Description: Homo sapiens dopa decarboxylase (DDC), transcript variant 1, mRNA. (from RefSeq NM_001082971)
RefSeq Summary (NM_001082971): 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].
Gencode Transcript: ENST00000444124.7
Gencode Gene: ENSG00000132437.18
Transcript (Including UTRs)
   Position: hg38 chr7:50,458,442-50,565,405 Size: 106,964 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg38 chr7:50,463,231-50,544,085 Size: 80,855 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:50,458,442-50,565,405)mRNA (may differ from genome)Protein (480 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGIneXtProtOMIMPubMedReactome
Stanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: DDC_HUMAN
DESCRIPTION: RecName: Full=Aromatic-L-amino-acid decarboxylase; Short=AADC; EC=4.1.1.28; AltName: Full=DOPA decarboxylase; Short=DDC;
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).
COFACTOR: Pyridoxal phosphate.
PATHWAY: Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 2/2.
SUBUNIT: Homodimer.
INTERACTION: P10275:AR; NbExp=2; IntAct=EBI-1632155, EBI-608057;
DISEASE: Defects in DDC are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]. AADCD deficiency is 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.
SIMILARITY: Belongs to the group II decarboxylase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DDC";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ddc/";
WEB RESOURCE: Name=Wikipedia; Note=Aromatic L-amino-acid decarboxylase entry; URL="http://en.wikipedia.org/wiki/Aromatic-L-amino-acid_decarboxylase";

-  MalaCards Disease Associations
  MalaCards Gene Search: DDC
Diseases sorted by gene-association score: aromatic l-amino acid decarboxylase deficiency* (1705), autoimmune polyendocrine syndrome type 1 (19), oculogyric crisis (17), autoimmune polyendocrine syndrome (12), postural hypotension (10), addison's disease (9), supratentorial primitive neuroectodermal tumor (9), dopamine beta-hydroxylase deficiency (9), pure autonomic failure (7), parkinson disease, late-onset (6), fabry disease (6), vitiligo-associated multiple autoimmune disease susceptibility 1 (5), serine deficiency (4), syndromic intellectual disability (4), movement disease (2), pheochromocytoma (2), synucleinopathy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.95 RPKM in Small Intestine - Terminal Ileum
Total median expression: 82.94 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.80149-0.234 Picture PostScript Text
3' UTR -92.40420-0.220 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010977 - Aromatic_deC
IPR002129 - PyrdxlP-dep_de-COase
IPR015424 - PyrdxlP-dep_Trfase_major_dom
IPR015421 - PyrdxlP-dep_Trfase_major_sub1
IPR015422 - PyrdxlP-dep_Trfase_major_sub2
IPR021115 - Pyridoxal-P_BS

Pfam Domains:
PF00282 - Pyridoxal-dependent decarboxylase conserved domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3RBF
- X-ray MuPIT

3RBL
- X-ray MuPIT

3RCH
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P20711
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein Sequence Protein SequenceProtein Sequence 
AlignmentAlignment AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
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:0019899 enzyme binding
GO:0019904 protein domain specific binding
GO:0030170 pyridoxal phosphate binding
GO:0036468 L-dopa decarboxylase activity

Biological Process:
GO:0006520 cellular amino acid metabolic process
GO:0007623 circadian rhythm
GO:0009636 response to toxic substance
GO:0010259 multicellular organism aging
GO:0015842 aminergic neurotransmitter loading into synaptic vesicle
GO:0019752 carboxylic acid metabolic process
GO:0033076 isoquinoline alkaloid metabolic process
GO:0035690 cellular response to drug
GO:0042416 dopamine biosynthetic process
GO:0042423 catecholamine biosynthetic process
GO:0042427 serotonin biosynthetic 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 exosome


-  Descriptions from all associated GenBank mRNAs
  KP729827 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 11 (DDC), complete sequence.
KP729828 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 12 (DDC), complete sequence.
KP729829 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 7 (DDC) mRNA, complete cds.
KP729830 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 8 (DDC) mRNA, complete cds.
KP729831 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 9 (DDC) mRNA, complete cds.
KP729832 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 16 (DDC), complete sequence.
KP729833 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 17 (DDC), complete sequence.
KP729834 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 18 (DDC), complete sequence.
KP729835 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 19 (DDC), complete sequence.
KP729836 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 20 (DDC), complete sequence.
KP729837 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 21 (DDC), complete sequence.
KP729838 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 22 (DDC), complete sequence.
KP729839 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 23 (DDC), complete sequence.
KP729840 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 24 (DDC), complete sequence.
KP729841 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 10 (DDC) mRNA, complete cds.
KP729842 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 11 (DDC) mRNA, complete cds.
KP729843 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 12 (DDC) mRNA, complete cds.
KP729844 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 13 (DDC) mRNA, complete cds.
KP729845 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 14 (DDC) mRNA, complete cds.
KP729846 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 15 (DDC) mRNA, complete cds.
KP729847 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 31 (DDC), complete sequence.
KP729848 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 32 (DDC), complete sequence.
KP729849 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 16 (DDC) mRNA, complete cds.
KP729850 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 17 (DDC) mRNA, complete cds.
KP729851 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 18 (DDC) mRNA, complete cds.
KP729852 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 19 (DDC) mRNA, complete cds.
KP729853 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 20 (DDC) mRNA, complete cds.
KP729854 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 21 (DDC) mRNA, complete cds.
KP729855 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 22 (DDC) mRNA, complete cds.
KP729856 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 23 (DDC) mRNA, complete cds.
KP729857 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 24 (DDC) mRNA, complete cds.
KP729858 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 25 (DDC) mRNA, complete cds.
KP729859 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 26 (DDC) mRNA, complete cds.
KP729860 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 44 (DDC), complete sequence.
KP729861 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 45 (DDC), complete sequence.
KP729862 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 46 (DDC), complete sequence.
KP729863 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 27 (DDC) mRNA, complete cds.
KP729864 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 28 (DDC) mRNA, complete cds.
KP729865 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 29 (DDC) mRNA, complete cds.
KP729866 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 30 (DDC) mRNA, complete cds.
KP729867 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 31 (DDC) mRNA, complete cds.
KP729868 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 52 (DDC), complete sequence.
KP729869 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 53 (DDC), complete sequence.
KP729870 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 54 (DDC), complete sequence.
KP729871 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 55 (DDC), complete sequence.
KP729872 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 56 (DDC), complete sequence.
KP729873 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 32 (DDC) mRNA, complete cds.
KP729874 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 33 (DDC) mRNA, complete cds.
KP729875 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 34 (DDC) mRNA, complete cds.
KP729876 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 35 (DDC) mRNA, complete cds.
KP729877 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 36 (DDC) mRNA, complete cds.
KP729878 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 37 (DDC) mRNA, complete cds.
KP729879 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 38 (DDC) mRNA, complete cds.
KP729880 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 39 (DDC) mRNA, complete cds.
KP729881 - Homo sapiens aromatic-L-amino-acid decarboxylase isoform 40 (DDC) mRNA, complete cds.
BC000485 - Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase), mRNA (cDNA clone MGC:8351 IMAGE:2819761), complete cds.
BC008366 - Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase), mRNA (cDNA clone MGC:4310 IMAGE:2819761), complete cds.
LF385378 - JP 2014500723-A/192881: Polycomb-Associated Non-Coding RNAs.
MA620955 - JP 2018138019-A/192881: Polycomb-Associated Non-Coding RNAs.
M76180 - Human aromatic amino acid decarboxylase (ddc) mRNA, complete cds.
M88700 - Human dopa decarboxylase (DDC) gene, complete cds.
AK298321 - Homo sapiens cDNA FLJ51516 complete cds, highly similar to Aromatic-L-amino-acid decarboxylase (EC 4.1.1.28).
AK298392 - Homo sapiens cDNA FLJ51517 complete cds, moderately similar to Aromatic-L-amino-acid decarboxylase (EC 4.1.1.28).
MK991974 - Homo sapiens nonfunctional dopa decarboxylase transcript variant 16 (DDC) mRNA, complete sequence.
MK991975 - Homo sapiens nonfunctional dopa decarboxylase transcript variant 17 (DDC) mRNA, complete sequence.
MK991976 - Homo sapiens dopa decarboxylase transcript variant 18 (DDC) mRNA, complete cds, alternatively spliced.
MK991977 - Homo sapiens dopa decarboxylase transcript variant 19 (DDC) mRNA, complete cds, alternatively spliced.
MK991978 - Homo sapiens dopa decarboxylase transcript variant 20 (DDC) mRNA, complete cds, alternatively spliced.
MK991979 - Homo sapiens dopa decarboxylase transcript variant 21 (DDC) mRNA, complete cds, alternatively spliced.
MK991966 - Homo sapiens nonfunctional dopa decarboxylase transcript variant 8 (DDC) mRNA, complete sequence.
MK991967 - Homo sapiens nonfunctional dopa decarboxylase transcript variant 9 (DDC) mRNA, complete sequence.
MK991968 - Homo sapiens nonfunctional dopa decarboxylase transcript variant 10 (DDC) mRNA, complete sequence.
MK991969 - Homo sapiens dopa decarboxylase transcript variant 11 (DDC) mRNA, complete cds, alternatively spliced.
MK991970 - Homo sapiens dopa decarboxylase transcript variant 12 (DDC) mRNA, complete cds, alternatively spliced.
MK991971 - Homo sapiens dopa decarboxylase transcript variant 13 (DDC) mRNA, complete cds, alternatively spliced.
MK991972 - Homo sapiens dopa decarboxylase transcript variant 14 (DDC) mRNA, complete cds, alternatively spliced.
MK991973 - Homo sapiens dopa decarboxylase transcript variant 15 (DDC) mRNA, complete cds, alternatively spliced.
JD450482 - Sequence 431506 from Patent EP1572962.
JD550173 - Sequence 531197 from Patent EP1572962.
JD468245 - Sequence 449269 from Patent EP1572962.
JD539205 - Sequence 520229 from Patent EP1572962.
JD138505 - Sequence 119529 from Patent EP1572962.
EU176304 - Synthetic construct Homo sapiens clone IMAGE:100006384; FLH176546.01X; RZPDo839C04251D dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC) gene, encodes complete protein.
BT007009 - Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) mRNA, complete cds.
KU178021 - Homo sapiens dopa decarboxylase isoform 1 (DDC) mRNA, partial cds.
KU178022 - Homo sapiens dopa decarboxylase isoform 2 (DDC) mRNA, partial cds, alternatively spliced.
CR456724 - Homo sapiens full open reading frame cDNA clone RZPDo834H113D for gene DDC, dopa decarboxylase (aromatic L-amino acid decarboxylase); complete cds, incl. stopcodon.
AJ310724 - Homo sapiens partial mRNA for putative L-Dopa decarboxylase (DDC gene).
KY498536 - Homo sapiens isolate PE510335 aromatic amino acid decarboxylase variant (DDC) mRNA, partial sequence.
KY498537 - Homo sapiens isolate PE5106al aromatic amino acid decarboxylase variant (DDC) mRNA, partial sequence.
KY498538 - Homo sapiens isolate PE5106au aromatic amino acid decarboxylase variant (DDC) mRNA, partial sequence.
KY498539 - Homo sapiens isolate PE510M500 aromatic amino acid decarboxylase variant (DDC) mRNA, partial sequence.
KP729825 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 9 (DDC), complete sequence.
KP729826 - Homo sapiens aromatic-L-amino-acid decarboxylase transcript variant 10 (DDC), complete sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00340 - Histidine metabolism
hsa00350 - Tyrosine metabolism
hsa00360 - Phenylalanine metabolism
hsa00380 - Tryptophan metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-6030 - serotonin and melatonin biosynthesis
PWY-6307 - tryptophan degradation via tryptamine
PWY66-301 - catecholamine biosynthesis
PWY66-401 - superpathway of tryptophan utilization

Reactome (by CSHL, EBI, and GO)

Protein P20711 (Reactome details) participates in the following event(s):

R-HSA-209859 Decarboxylation of 5-hydroxytryptophan forms serotonin
R-HSA-209924 Dopa is decarboxylated to dopamine
R-HSA-209931 Serotonin and melatonin biosynthesis
R-HSA-209905 Catecholamine biosynthesis
R-HSA-209776 Amine-derived hormones
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: AADC, DDC_HUMAN, NM_001082971, P20711, Q16723, Q75MJ6, uc003tpg.1, uc003tpg.2, uc003tpg.3, uc003tpg.4, uc003tpg.5, uc003tpg.6
UCSC ID: uc003tpg.6
RefSeq Accession: NM_001082971
Protein: P20711 (aka DDC_HUMAN)
CCDS: CCDS5511.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.