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P20711

- DDC_HUMAN

UniProt

P20711 - DDC_HUMAN

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Protein

Aromatic-L-amino-acid decarboxylase

Gene

DDC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei82 – 821SubstrateBy similarity
Binding sitei148 – 1481PLP; via amide nitrogen
Binding sitei149 – 1491PLP
Binding sitei192 – 1921SubstrateBy similarity
Binding sitei246 – 2461PLP; via carbonyl oxygen
Binding sitei300 – 3001PLP

GO - Molecular functioni

  1. amino acid binding Source: Ensembl
  2. aromatic-L-amino-acid decarboxylase activity Source: UniProtKB
  3. enzyme binding Source: ParkinsonsUK-UCL
  4. L-dopa decarboxylase activity Source: ParkinsonsUK-UCL
  5. pyridoxal phosphate binding Source: InterPro

GO - Biological processi

  1. catecholamine biosynthetic process Source: Reactome
  2. cellular amino acid metabolic process Source: InterPro
  3. cellular nitrogen compound metabolic process Source: Reactome
  4. cellular response to alkaloid Source: Ensembl
  5. cellular response to drug Source: Ensembl
  6. cellular response to growth factor stimulus Source: Ensembl
  7. circadian rhythm Source: Ensembl
  8. dopamine biosynthetic process Source: UniProtKB-UniPathway
  9. indolalkylamine biosynthetic process Source: Reactome
  10. isoquinoline alkaloid metabolic process Source: Ensembl
  11. multicellular organismal aging Source: Ensembl
  12. phytoalexin metabolic process Source: Ensembl
  13. response to pyrethroid Source: Ensembl
  14. serotonin biosynthetic process Source: Ensembl
  15. small molecule metabolic process Source: Reactome
  16. synaptic vesicle amine transport Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Decarboxylase, Lyase

Keywords - Biological processi

Catecholamine biosynthesis

Keywords - Ligandi

Pyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS05635-MONOMER.
BRENDAi4.1.1.28. 2681.
ReactomeiREACT_15439. Serotonin and melatonin biosynthesis.
REACT_15551. Catecholamine 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
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:2719. DDC.

Subcellular locationi

GO - Cellular componenti

  1. axon Source: Ensembl
  2. cytosol Source: Reactome
  3. extracellular vesicular exosome Source: UniProt
  4. neuronal cell body Source: Ensembl
  5. synaptic vesicle Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471P → H in AADCD. 1 Publication
VAR_046137
Natural varianti91 – 911A → V in AADCD. 1 Publication
VAR_046138
Natural varianti102 – 1021G → S in AADCD. 2 Publications
VAR_019309
Natural varianti147 – 1471S → R in AADCD. 1 Publication
VAR_046139
Natural varianti250 – 2501S → F in AADCD. 2 Publications
VAR_046140
Natural varianti275 – 2751A → T in AADCD. 1 Publication
VAR_046141
Natural varianti309 – 3091F → L in AADCD. 1 Publication
VAR_046142
Natural varianti347 – 3471R → Q in AADCD. 1 Publication
VAR_046143
Natural varianti408 – 4081L → I in AADCD. 1 Publication
VAR_046144

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi608643. phenotype.
Orphaneti35708. Aromatic L-amino acid decarboxylase deficiency.
PharmGKBiPA140.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 480480Aromatic-L-amino-acid decarboxylasePRO_0000146939Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineBy similarity
Modified residuei303 – 3031N6-(pyridoxal phosphate)lysine

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP20711.
PaxDbiP20711.
PRIDEiP20711.

PTM databases

PhosphoSiteiP20711.

Expressioni

Gene expression databases

BgeeiP20711.
CleanExiHS_DDC.
ExpressionAtlasiP20711. baseline and differential.
GenevestigatoriP20711.

Organism-specific databases

HPAiHPA017742.

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

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

Protein-protein interaction databases

BioGridi108011. 3 interactions.
DIPiDIP-40563N.
IntActiP20711. 4 interactions.
STRINGi9606.ENSP00000350616.

Structurei

Secondary structure

1
480
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi3 – 2220Combined sources
Helixi24 – 263Combined sources
Helixi39 – 413Combined sources
Helixi53 – 6311Combined sources
Helixi65 – 673Combined sources
Beta strandi78 – 803Combined sources
Helixi86 – 9813Combined sources
Helixi109 – 12517Combined sources
Helixi130 – 1323Combined sources
Beta strandi135 – 1373Combined sources
Beta strandi141 – 1466Combined sources
Helixi148 – 16922Combined sources
Helixi176 – 1805Combined sources
Beta strandi183 – 1886Combined sources
Helixi193 – 2019Combined sources
Beta strandi205 – 2095Combined sources
Helixi219 – 23113Combined sources
Beta strandi235 – 24410Combined sources
Turni246 – 2483Combined sources
Helixi254 – 26310Combined sources
Beta strandi267 – 2715Combined sources
Helixi275 – 2806Combined sources
Turni282 – 2843Combined sources
Helixi285 – 2884Combined sources
Helixi291 – 2933Combined sources
Beta strandi295 – 2995Combined sources
Helixi301 – 3044Combined sources
Beta strandi312 – 3176Combined sources
Helixi319 – 3235Combined sources
Helixi359 – 39335Combined sources
Beta strandi398 – 4003Combined sources
Beta strandi406 – 41510Combined sources
Helixi417 – 43014Combined sources
Beta strandi432 – 4343Combined sources
Beta strandi436 – 4405Combined sources
Beta strandi443 – 4497Combined sources
Helixi457 – 47620Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3RBFX-ray2.90A/B1-480[»]
3RBLX-ray3.24A/B1-480[»]
3RCHX-ray2.80A/B1-480[»]
ProteinModelPortaliP20711.
SMRiP20711. Positions 1-480.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati58 – 115581Add
BLAST
Repeati118 – 178612Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni58 – 1781212 X approximate tandem repeatsAdd
BLAST

Sequence similaritiesi

Belongs to the group II decarboxylase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG0076.
GeneTreeiENSGT00760000119205.
HOGENOMiHOG000121941.
HOVERGENiHBG000944.
InParanoidiP20711.
KOiK01593.
OMAiPICNKED.
OrthoDBiEOG75B851.
PhylomeDBiP20711.
TreeFamiTF313863.

Family and domain databases

Gene3Di3.40.640.10. 1 hit.
3.90.1150.10. 1 hit.
InterProiIPR010977. Aromatic_deC.
IPR002129. PyrdxlP-dep_de-COase.
IPR015424. PyrdxlP-dep_Trfase.
IPR015421. PyrdxlP-dep_Trfase_major_sub1.
IPR015422. PyrdxlP-dep_Trfase_major_sub2.
IPR021115. Pyridoxal-P_BS.
[Graphical view]
PfamiPF00282. Pyridoxal_deC. 1 hit.
[Graphical view]
PRINTSiPR00800. YHDCRBOXLASE.
SUPFAMiSSF53383. SSF53383. 1 hit.
PROSITEiPS00392. DDC_GAD_HDC_YDC. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti49 – 491E → G in AAB59432. (PubMed:8510497)Curated
Sequence conflicti155 – 1551A → P in AAD40482. (PubMed:1540578)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171M → V.8 Publications
Corresponds to variant rs6264 [ dbSNP | Ensembl ].
VAR_014788
Natural varianti47 – 471P → H in AADCD. 1 Publication
VAR_046137
Natural varianti61 – 611E → D.1 Publication
Corresponds to variant rs11575292 [ dbSNP | Ensembl ].
VAR_019214
Natural varianti91 – 911A → V in AADCD. 1 Publication
VAR_046138
Natural varianti102 – 1021G → S in AADCD. 2 Publications
VAR_019309
Natural varianti147 – 1471S → R in AADCD. 1 Publication
VAR_046139
Natural varianti210 – 2101P → L.2 Publications
Corresponds to variant rs6262 [ dbSNP | Ensembl ].
VAR_014789
Natural varianti217 – 2171M → V.2 Publications
Corresponds to variant rs6263 [ dbSNP | Ensembl ].
VAR_014790
Natural varianti239 – 2391M → I.1 Publication
Corresponds to variant rs11575377 [ dbSNP | Ensembl ].
VAR_019215
Natural varianti239 – 2391M → L.1 Publication
Corresponds to variant rs11575376 [ dbSNP | Ensembl ].
VAR_019216
Natural varianti250 – 2501S → F in AADCD. 2 Publications
VAR_046140
Natural varianti275 – 2751A → T in AADCD. 1 Publication
VAR_046141
Natural varianti309 – 3091F → L in AADCD. 1 Publication
VAR_046142
Natural varianti347 – 3471R → Q in AADCD. 1 Publication
VAR_046143
Natural varianti408 – 4081L → I in AADCD. 1 Publication
VAR_046144
Natural varianti462 – 4621R → Q.1 Publication
Corresponds to variant rs11575542 [ dbSNP | Ensembl ].
VAR_019217

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei68 – 14578Missing in isoform 3. CuratedVSP_047175Add
BLAST
Alternative sequencei146 – 23893Missing in isoform 4. CuratedVSP_047176Add
BLAST
Alternative sequencei316 – 33823VKKRT…KHSHQ → SRQPVRMLRLKKTCLVSAVV RRS in isoform 2. 1 PublicationVSP_046569Add
BLAST
Alternative sequencei339 – 480142Missing in isoform 2. 1 PublicationVSP_046570Add
BLAST

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.

Polymorphism databases

DMDMi311033369.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs
Wikipedia

Aromatic L-amino-acid decarboxylase entry

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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 .
CCDSi CCDS5511.1. [P20711-1 ]
CCDS56485.1. [P20711-3 ]
CCDS56486.1. [P20711-4 ]
CCDS56487.1. [P20711-2 ]
PIRi A33663. DCHUA.
RefSeqi NP_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.
UniGenei Hs.359698.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3RBF X-ray 2.90 A/B 1-480 [» ]
3RBL X-ray 3.24 A/B 1-480 [» ]
3RCH X-ray 2.80 A/B 1-480 [» ]
ProteinModelPortali P20711.
SMRi P20711. Positions 1-480.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108011. 3 interactions.
DIPi DIP-40563N.
IntActi P20711. 4 interactions.
STRINGi 9606.ENSP00000350616.

Chemistry

ChEMBLi CHEMBL1843.
DrugBanki DB00915. Amantadine.
DB00190. Carbidopa.
DB00260. Cycloserine.
DB06262. Droxidopa.
DB00875. Flupentixol.
DB01235. L-DOPA.
DB00150. L-Tryptophan.
DB00968. Methyldopa.

PTM databases

PhosphoSitei P20711.

Polymorphism databases

DMDMi 311033369.

Proteomic databases

MaxQBi P20711.
PaxDbi P20711.
PRIDEi P20711.

Protocols and materials databases

DNASUi 1644.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000357936 ; 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 ]
GeneIDi 1644.
KEGGi hsa:1644.

Organism-specific databases

CTDi 1644.
GeneCardsi GC07M050526.
H-InvDB HIX0006684.
HGNCi HGNC:2719. DDC.
HPAi HPA017742.
MIMi 107930. gene.
608643. phenotype.
neXtProti NX_P20711.
Orphaneti 35708. Aromatic L-amino acid decarboxylase deficiency.
PharmGKBi PA140.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0076.
GeneTreei ENSGT00760000119205.
HOGENOMi HOG000121941.
HOVERGENi HBG000944.
InParanoidi P20711.
KOi K01593.
OMAi PICNKED.
OrthoDBi EOG75B851.
PhylomeDBi P20711.
TreeFami TF313863.

Enzyme and pathway databases

UniPathwayi UPA00747 ; UER00734 .
BioCyci MetaCyc:HS05635-MONOMER.
BRENDAi 4.1.1.28. 2681.
Reactomei REACT_15439. Serotonin and melatonin biosynthesis.
REACT_15551. Catecholamine biosynthesis.

Miscellaneous databases

GenomeRNAii 1644.
NextBioi 35484171.
PROi P20711.
SOURCEi Search...

Gene expression databases

Bgeei P20711.
CleanExi HS_DDC.
ExpressionAtlasi P20711. baseline and differential.
Genevestigatori P20711.

Family and domain databases

Gene3Di 3.40.640.10. 1 hit.
3.90.1150.10. 1 hit.
InterProi IPR010977. Aromatic_deC.
IPR002129. PyrdxlP-dep_de-COase.
IPR015424. PyrdxlP-dep_Trfase.
IPR015421. PyrdxlP-dep_Trfase_major_sub1.
IPR015422. PyrdxlP-dep_Trfase_major_sub2.
IPR021115. Pyridoxal-P_BS.
[Graphical view ]
Pfami PF00282. Pyridoxal_deC. 1 hit.
[Graphical view ]
PRINTSi PR00800. YHDCRBOXLASE.
SUPFAMi SSF53383. SSF53383. 1 hit.
PROSITEi PS00392. DDC_GAD_HDC_YDC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and characterization of a cDNA clone encoding human aromatic L-amino acid decarboxylase."
    Ichinose H., Kurosawa Y., Titani K., Fujita K., Nagatsu T.
    Biochem. Biophys. Res. Commun. 164:1024-1030(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT VAL-17.
    Tissue: Pheochromocytoma.
  2. "Human dopa decarboxylase: localization to human chromosome 7p11 and characterization of hepatic cDNAs."
    Scherer L.J., McPherson J.D., Wasmuth J.J., Marsh L.J.
    Genomics 13:469-471(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT VAL-17.
  3. "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."
    Sumi-Ichinose C., Ichinose H., Takahashi E., Hori T., Nagatsu T.
    Biochemistry 31:2229-2238(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], DISEASE, VARIANT VAL-17.
  4. "Identification and characterization of a novel form of the human L-dopa decarboxylase mRNA."
    Vassilacopoulou D.S., Sideris D.C., Vassiliou A.G., Fragoulis E.G.
    Neurochem. Res. 29:1817-1823(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING, VARIANT VAL-17.
    Tissue: Placenta.
  5. NIEHS SNPs program
    Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-17; ASP-61; LEU-210; VAL-217; LEU-239; ILE-239 AND GLN-462.
  6. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-17.
    Tissue: Lung.
  8. "Identification of a neuron-specific promoter of human aromatic L-amino acid decarboxylase gene."
    Van Thai A., Coste E., Allen J.M., Palmiter R.D., Weber M.J.
    Brain Res. Mol. Brain Res. 17:227-238(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-67, VARIANT VAL-17.
  9. "Localisation of the gene for human aromatic L-amino acid decarboxylase (DDC) to chromosome 7p13-->p11 by in situ hybridisation."
    Craig S.P., Thai A.L., Weber M., Craig I.W.
    Cytogenet. Cell Genet. 61:114-116(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 68-105.
  10. "Open conformation of human DOPA decarboxylase reveals the mechanism of PLP addition to Group II decarboxylases."
    Giardina G., Montioli R., Gianni S., Cellini B., Paiardini A., Voltattorni C.B., Cutruzzola F.
    Proc. Natl. Acad. Sci. U.S.A. 108:20514-20519(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS), COFACTOR-BINDING SITES, SUBUNIT.
  11. "Mutations in the human aromatic L-amino acid decarboxylase gene."
    Chang Y.T., Mues G., McPherson J.D., Bedell J., Marsh J.L., Hyland K., Courtwright K.H., Summers J.W.
    J. Inherit. Metab. Dis. 21:4-4(1998)
    Cited for: VARIANTS AADCD VAL-91; SER-102; ARG-147; PHE-250; THR-275 AND LEU-309.
  12. Cited for: VARIANTS VAL-17; LEU-210 AND VAL-217.
  13. Cited for: VARIANT AADCD SER-102.
  14. "Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis."
    Pons R., Ford B., Chiriboga C.A., Clayton P.T., Hinton V., Hyland K., Sharma R., De Vivo D.C.
    Neurology 62:1058-1065(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AADCD HIS-47; PHE-250; GLN-347 AND ILE-408.

Entry informationi

Entry nameiDDC_HUMAN
AccessioniPrimary (citable) accession number: P20711
Secondary accession number(s): C9IYA0
, E7ER62, E7EU95, Q16723, Q5W5T9, Q75MJ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: November 2, 2010
Last modified: November 26, 2014
This is version 156 of the entry and version 2 of the sequence. [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

External Data

Dasty 3