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Protein

Aromatic-L-amino-acid decarboxylase

Gene

DDC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

L-dopa = dopamine + CO2.
5-hydroxy-L-tryptophan = 5-hydroxytryptamine + CO2.

Cofactori

pyridoxal 5'-phosphate1 Publication

Pathwayi: dopamine biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes dopamine from L-tyrosine.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Tyrosine 3-monooxygenase (TH)
  2. Aromatic-L-amino-acid decarboxylase (DDC)
This subpathway is part of the pathway dopamine biosynthesis, which is itself part of Catecholamine biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes dopamine from L-tyrosine, the pathway dopamine biosynthesis and in Catecholamine biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei82SubstrateBy similarity1
Binding sitei148Pyridoxal phosphate; via amide nitrogenCombined sources1 Publication1
Binding sitei149Pyridoxal phosphateCombined sources1 Publication1
Binding sitei192SubstrateBy similarity1
Binding sitei246Pyridoxal phosphate; via carbonyl oxygenCombined sources1 Publication1
Binding sitei300Pyridoxal phosphateCombined sources1 Publication1

GO - Molecular functioni

  • amino acid binding Source: Ensembl
  • aromatic-L-amino-acid decarboxylase activity Source: UniProtKB
  • enzyme binding Source: ParkinsonsUK-UCL
  • L-dopa decarboxylase activity Source: ParkinsonsUK-UCL
  • protein domain specific binding Source: Ensembl
  • pyridoxal phosphate binding Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionDecarboxylase, Lyase
Biological processCatecholamine biosynthesis
LigandPyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS05635-MONOMER
BRENDAi4.1.1.28 2681
ReactomeiR-HSA-209905 Catecholamine biosynthesis
R-HSA-209931 Serotonin and melatonin biosynthesis
UniPathwayiUPA00747; UER00734

Names & Taxonomyi

Protein namesi
Recommended name:
Aromatic-L-amino-acid decarboxylase (EC:4.1.1.28)
Short name:
AADC
Alternative name(s):
DOPA decarboxylase
Short name:
DDC
Gene namesi
Name:DDC
Synonyms:AADC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000132437.17
HGNCiHGNC:2719 DDC
MIMi107930 gene
neXtProtiNX_P20711

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Aromatic L-amino-acid decarboxylase deficiency (AADCD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:608643
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04613747P → H in AADCD. 1 PublicationCorresponds to variant dbSNP:rs780542462Ensembl.1
Natural variantiVAR_04613891A → V in AADCD. 1 PublicationCorresponds to variant dbSNP:rs137853211EnsemblClinVar.1
Natural variantiVAR_019309102G → S in AADCD. 2 PublicationsCorresponds to variant dbSNP:rs137853207EnsemblClinVar.1
Natural variantiVAR_046139147S → R in AADCD. 1 PublicationCorresponds to variant dbSNP:rs137853210EnsemblClinVar.1
Natural variantiVAR_046140250S → F in AADCD. 2 PublicationsCorresponds to variant dbSNP:rs137853208EnsemblClinVar.1
Natural variantiVAR_046141275A → T in AADCD. 1 PublicationCorresponds to variant dbSNP:rs137853212EnsemblClinVar.1
Natural variantiVAR_046142309F → L in AADCD. 1 PublicationCorresponds to variant dbSNP:rs137853209EnsemblClinVar.1
Natural variantiVAR_046143347R → Q in AADCD. 1 PublicationCorresponds to variant dbSNP:rs201951824EnsemblClinVar.1
Natural variantiVAR_046144408L → I in AADCD. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1644
MalaCardsiDDC
MIMi608643 phenotype
OpenTargetsiENSG00000132437
Orphaneti35708 Aromatic L-amino acid decarboxylase deficiency
PharmGKBiPA140

Chemistry databases

ChEMBLiCHEMBL1843
DrugBankiDB00915 Amantadine
DB00190 Carbidopa
DB05307 CHF-1512
DB00260 Cycloserine
DB06262 Droxidopa
DB00875 Flupentixol
DB00150 L-Tryptophan
DB01235 Levodopa
DB00968 Methyldopa
DB00114 Pyridoxal Phosphate

Polymorphism and mutation databases

BioMutaiDDC
DMDMi311033369

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001469391 – 480Aromatic-L-amino-acid decarboxylaseAdd BLAST480

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineBy similarity1
Modified residuei303N6-(pyridoxal phosphate)lysine1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP20711
PaxDbiP20711
PeptideAtlasiP20711
PRIDEiP20711
ProteomicsDBi53778

PTM databases

PhosphoSitePlusiP20711

Expressioni

Gene expression databases

BgeeiENSG00000132437
CleanExiHS_DDC
ExpressionAtlasiP20711 baseline and differential
GenevisibleiP20711 HS

Organism-specific databases

HPAiHPA017742

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ARP102752EBI-1632155,EBI-608057

GO - Molecular functioni

  • enzyme binding Source: ParkinsonsUK-UCL
  • protein domain specific binding Source: Ensembl

Protein-protein interaction databases

BioGridi108011, 3 interactors
DIPiDIP-40563N
IntActiP20711, 4 interactors
STRINGi9606.ENSP00000350616

Chemistry databases

BindingDBiP20711

Structurei

Secondary structure

1480
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi3 – 22Combined sources20
Helixi24 – 26Combined sources3
Helixi39 – 41Combined sources3
Helixi53 – 63Combined sources11
Helixi65 – 67Combined sources3
Beta strandi78 – 80Combined sources3
Helixi86 – 98Combined sources13
Turni105 – 107Combined sources3
Helixi109 – 125Combined sources17
Helixi130 – 132Combined sources3
Beta strandi135 – 137Combined sources3
Beta strandi141 – 146Combined sources6
Helixi148 – 169Combined sources22
Helixi176 – 180Combined sources5
Beta strandi183 – 188Combined sources6
Helixi193 – 201Combined sources9
Beta strandi205 – 209Combined sources5
Helixi219 – 231Combined sources13
Beta strandi235 – 244Combined sources10
Turni246 – 248Combined sources3
Helixi254 – 263Combined sources10
Beta strandi267 – 271Combined sources5
Helixi275 – 280Combined sources6
Turni282 – 284Combined sources3
Helixi285 – 288Combined sources4
Helixi291 – 293Combined sources3
Beta strandi295 – 299Combined sources5
Helixi302 – 305Combined sources4
Beta strandi312 – 317Combined sources6
Helixi319 – 323Combined sources5
Helixi359 – 393Combined sources35
Beta strandi398 – 400Combined sources3
Beta strandi406 – 415Combined sources10
Helixi417 – 430Combined sources14
Beta strandi432 – 434Combined sources3
Beta strandi436 – 440Combined sources5
Beta strandi443 – 449Combined sources7
Helixi457 – 476Combined sources20

3D structure databases

ProteinModelPortaliP20711
SMRiP20711
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati58 – 1151Add BLAST58
Repeati118 – 1782Add BLAST61

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni58 – 1782 X approximate tandem repeatsAdd BLAST121

Sequence similaritiesi

Belongs to the group II decarboxylase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0628 Eukaryota
COG0076 LUCA
GeneTreeiENSGT00760000119205
HOGENOMiHOG000121941
HOVERGENiHBG000944
InParanoidiP20711
KOiK01593
OMAiSAMWVKK
OrthoDBiEOG091G03KI
PhylomeDBiP20711
TreeFamiTF313863

Family and domain databases

Gene3Di3.40.640.10, 1 hit
3.90.1150.10, 1 hit
InterProiView protein in InterPro
IPR010977 Aromatic_deC
IPR002129 PyrdxlP-dep_de-COase
IPR015424 PyrdxlP-dep_Trfase
IPR015422 PyrdxlP-dep_Trfase_dom1
IPR015421 PyrdxlP-dep_Trfase_major
IPR021115 Pyridoxal-P_BS
PfamiView protein in Pfam
PF00282 Pyridoxal_deC, 1 hit
PRINTSiPR00800 YHDCRBOXLASE
SUPFAMiSSF53383 SSF53383, 1 hit
PROSITEiView protein in PROSITE
PS00392 DDC_GAD_HDC_YDC, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P20711-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNASEFRRRG KEMVDYMANY MEGIEGRQVY PDVEPGYLRP LIPAAAPQEP
60 70 80 90 100
DTFEDIINDV EKIIMPGVTH WHSPYFFAYF PTASSYPAML ADMLCGAIGC
110 120 130 140 150
IGFSWAASPA CTELETVMMD WLGKMLELPK AFLNEKAGEG GGVIQGSASE
160 170 180 190 200
ATLVALLAAR TKVIHRLQAA SPELTQAAIM EKLVAYSSDQ AHSSVERAGL
210 220 230 240 250
IGGVKLKAIP SDGNFAMRAS ALQEALERDK AAGLIPFFMV ATLGTTTCCS
260 270 280 290 300
FDNLLEVGPI CNKEDIWLHV DAAYAGSAFI CPEFRHLLNG VEFADSFNFN
310 320 330 340 350
PHKWLLVNFD CSAMWVKKRT DLTGAFRLDP TYLKHSHQDS GLITDYRHWQ
360 370 380 390 400
IPLGRRFRSL KMWFVFRMYG VKGLQAYIRK HVQLSHEFES LVRQDPRFEI
410 420 430 440 450
CVEVILGLVC FRLKGSNKVN EALLQRINSA KKIHLVPCHL RDKFVLRFAI
460 470 480
CSRTVESAHV QRAWEHIKEL AADVLRAERE
Length:480
Mass (Da):53,926
Last modified:November 2, 2010 - v2
Checksum:i0A2CFF9A39BDE298
GO
Isoform 2 (identifier: P20711-2) [UniParc]FASTAAdd to basket
Also known as: alt-DDC

The sequence of this isoform differs from the canonical sequence as follows:
     316-338: VKKRTDLTGAFRLDPTYLKHSHQ → SRQPVRMLRLKKTCLVSAVVRRS
     339-480: Missing.

Note: High expression in kidney.
Show »
Length:338
Mass (Da):37,118
Checksum:i4197295F0675291A
GO
Isoform 3 (identifier: P20711-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     68-145: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:402
Mass (Da):45,479
Checksum:i04119E5E691B06A2
GO
Isoform 4 (identifier: P20711-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     146-238: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:387
Mass (Da):44,239
Checksum:iC9D8C9459140ADD4
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti49E → G in AAB59432 (PubMed:8510497).Curated1
Sequence conflicti155A → P in AAD40482 (PubMed:1540578).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01478817M → V8 PublicationsCorresponds to variant dbSNP:rs6264Ensembl.1
Natural variantiVAR_04613747P → H in AADCD. 1 PublicationCorresponds to variant dbSNP:rs780542462Ensembl.1
Natural variantiVAR_01921461E → D1 PublicationCorresponds to variant dbSNP:rs11575292EnsemblClinVar.1
Natural variantiVAR_04613891A → V in AADCD. 1 PublicationCorresponds to variant dbSNP:rs137853211EnsemblClinVar.1
Natural variantiVAR_019309102G → S in AADCD. 2 PublicationsCorresponds to variant dbSNP:rs137853207EnsemblClinVar.1
Natural variantiVAR_046139147S → R in AADCD. 1 PublicationCorresponds to variant dbSNP:rs137853210EnsemblClinVar.1
Natural variantiVAR_014789210P → L2 PublicationsCorresponds to variant dbSNP:rs6262EnsemblClinVar.1
Natural variantiVAR_014790217M → V2 PublicationsCorresponds to variant dbSNP:rs6263EnsemblClinVar.1
Natural variantiVAR_019215239M → I1 PublicationCorresponds to variant dbSNP:rs11575377Ensembl.1
Natural variantiVAR_019216239M → L1 PublicationCorresponds to variant dbSNP:rs11575376Ensembl.1
Natural variantiVAR_046140250S → F in AADCD. 2 PublicationsCorresponds to variant dbSNP:rs137853208EnsemblClinVar.1
Natural variantiVAR_046141275A → T in AADCD. 1 PublicationCorresponds to variant dbSNP:rs137853212EnsemblClinVar.1
Natural variantiVAR_046142309F → L in AADCD. 1 PublicationCorresponds to variant dbSNP:rs137853209EnsemblClinVar.1
Natural variantiVAR_046143347R → Q in AADCD. 1 PublicationCorresponds to variant dbSNP:rs201951824EnsemblClinVar.1
Natural variantiVAR_046144408L → I in AADCD. 1 Publication1
Natural variantiVAR_019217462R → Q1 PublicationCorresponds to variant dbSNP:rs11575542EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04717568 – 145Missing in isoform 3. CuratedAdd BLAST78
Alternative sequenceiVSP_047176146 – 238Missing in isoform 4. CuratedAdd BLAST93
Alternative sequenceiVSP_046569316 – 338VKKRT…KHSHQ → SRQPVRMLRLKKTCLVSAVV RRS in isoform 2. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_046570339 – 480Missing in isoform 2. 1 PublicationAdd BLAST142

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M76180 mRNA Translation: AAA58437.1
M88700 mRNA Translation: AAA20894.1
M84592
, M84600, M84593, M84594, M84596, M84597, M84595, M84598, M84599, M84588, M84589, M84590, M84591 Genomic DNA Translation: AAD40482.1
AJ310724 mRNA Translation: CAC84071.1
AY526322 Genomic DNA Translation: AAS00092.1
AC018705 Genomic DNA Translation: AAS01995.1
BC000485 mRNA Translation: AAH00485.1
BC008366 mRNA Translation: AAH08366.1
AH005280 Genomic DNA Translation: AAB59432.1
S46516 Genomic DNA Translation: AAB23675.1
CCDSiCCDS5511.1 [P20711-1]
CCDS56485.1 [P20711-3]
CCDS56486.1 [P20711-4]
CCDS56487.1 [P20711-2]
PIRiA33663 DCHUA
RefSeqiNP_000781.1, NM_000790.3
NP_001076440.1, NM_001082971.1
NP_001229815.1, NM_001242886.1
NP_001229816.1, NM_001242887.1
NP_001229817.1, NM_001242888.1
NP_001229818.1, NM_001242889.1
NP_001229819.1, NM_001242890.1
UniGeneiHs.359698

Genome annotation databases

EnsembliENST00000357936; ENSP00000350616; ENSG00000132437 [P20711-1]
ENST00000380984; ENSP00000370371; ENSG00000132437 [P20711-2]
ENST00000426377; ENSP00000395069; ENSG00000132437 [P20711-3]
ENST00000431062; ENSP00000399184; ENSG00000132437 [P20711-4]
ENST00000444124; ENSP00000403644; ENSG00000132437 [P20711-1]
ENST00000615193; ENSP00000484104; ENSG00000132437 [P20711-4]
GeneIDi1644
KEGGihsa:1644
UCSCiuc003tpf.5 human [P20711-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDDC_HUMAN
AccessioniPrimary (citable) accession number: P20711
Secondary accession number(s): C9IYA0
, E7ER62, E7EU95, Q16723, Q5W5T9, Q75MJ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: November 2, 2010
Last modified: June 20, 2018
This is version 184 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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