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P20711

- DDC_HUMAN

UniProt

P20711 - DDC_HUMAN

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
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    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 2 (02 Nov 2010)
      Previous versions | rss
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    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 phosphate.1 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. protein binding Source: IntAct
    4. 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

    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

    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

    ArrayExpressiP20711.
    BgeeiP20711.
    CleanExiHS_DDC.
    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. 2 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 – 2220
    Helixi24 – 263
    Helixi39 – 413
    Helixi53 – 6311
    Helixi65 – 673
    Beta strandi78 – 803
    Helixi86 – 9813
    Helixi109 – 12517
    Helixi130 – 1323
    Beta strandi135 – 1373
    Beta strandi141 – 1466
    Helixi148 – 16922
    Helixi176 – 1805
    Beta strandi183 – 1886
    Helixi193 – 2019
    Beta strandi205 – 2095
    Helixi219 – 23113
    Beta strandi235 – 24410
    Turni246 – 2483
    Helixi254 – 26310
    Beta strandi267 – 2715
    Helixi275 – 2806
    Turni282 – 2843
    Helixi285 – 2884
    Helixi291 – 2933
    Beta strandi295 – 2995
    Helixi301 – 3044
    Beta strandi312 – 3176
    Helixi319 – 3235
    Helixi359 – 39335
    Beta strandi398 – 4003
    Beta strandi406 – 41510
    Helixi417 – 43014
    Beta strandi432 – 4343
    Beta strandi436 – 4405
    Beta strandi443 – 4497
    Helixi457 – 47620

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    HOGENOMiHOG000121941.
    HOVERGENiHBG000944.
    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

    MNASEFRRRG KEMVDYMANY MEGIEGRQVY PDVEPGYLRP LIPAAAPQEP    50
    DTFEDIINDV EKIIMPGVTH WHSPYFFAYF PTASSYPAML ADMLCGAIGC 100
    IGFSWAASPA CTELETVMMD WLGKMLELPK AFLNEKAGEG GGVIQGSASE 150
    ATLVALLAAR TKVIHRLQAA SPELTQAAIM EKLVAYSSDQ AHSSVERAGL 200
    IGGVKLKAIP SDGNFAMRAS ALQEALERDK AAGLIPFFMV ATLGTTTCCS 250
    FDNLLEVGPI CNKEDIWLHV DAAYAGSAFI CPEFRHLLNG VEFADSFNFN 300
    PHKWLLVNFD CSAMWVKKRT DLTGAFRLDP TYLKHSHQDS GLITDYRHWQ 350
    IPLGRRFRSL KMWFVFRMYG VKGLQAYIRK HVQLSHEFES LVRQDPRFEI 400
    CVEVILGLVC FRLKGSNKVN EALLQRINSA KKIHLVPCHL RDKFVLRFAI 450
    CSRTVESAHV QRAWEHIKEL AADVLRAERE 480
    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:
    EMBL
    GenBank
    DDBJ
    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]
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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. 2 interactions.
    DIPi DIP-40563N.
    IntActi P20711. 4 interactions.
    STRINGi 9606.ENSP00000350616.

    Chemistry

    ChEMBLi CHEMBL1843.
    DrugBanki DB00915. Amantadine.
    DB00190. Carbidopa.
    DB00875. Flupenthixol.
    DB00150. L-Tryptophan.
    DB01235. Levodopa.
    DB01100. Pimozide.
    DB00114. Pyridoxal Phosphate.
    DB00409. Remoxipride.

    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 ]
    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.
    HOGENOMi HOG000121941.
    HOVERGENi HBG000944.
    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

    ArrayExpressi P20711.
    Bgeei P20711.
    CleanExi HS_DDC.
    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

    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: October 1, 2014
    This is version 154 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