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DDC dopa decarboxylase [ Homo sapiens (human) ]

Gene ID: 1644, updated on 11-Apr-2024

Summary

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Official Symbol
DDCprovided by HGNC
Official Full Name
dopa decarboxylaseprovided by HGNC
Primary source
HGNC:HGNC:2719
See related
Ensembl:ENSG00000132437 MIM:107930; AllianceGenome:HGNC:2719
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AADC
Summary
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]
Expression
Biased expression in kidney (RPKM 112.5), small intestine (RPKM 59.9) and 5 other tissues See more
Orthologs
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Genomic context

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See DDC in Genome Data Viewer
Location:
7p12.2-p12.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (50458442..50565405, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (50619658..50726621, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (50526140..50633102, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:50514049-50515248 Neighboring gene RNA, U6 small nuclear 1091, pseudogene Neighboring gene Sharpr-MPRA regulatory region 9826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18183 Neighboring gene fidgetin like 1 Neighboring gene VISTA enhancer hs2059 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr7:50569579-50570080 and GRCh37_chr7:50570081-50570580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50581285-50581919 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_99424 and experimental_99425 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:50598907-50600106 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:50602470-50603669 Neighboring gene DDC antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:50637965-50638490 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99443 Neighboring gene growth factor receptor bound protein 10 Neighboring gene uncharacterized LOC124901632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50720584-50721214 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99457 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50736937-50737438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50737439-50737938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50782907-50783422 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99483 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50836560-50837139 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:50837140-50837720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50875755-50876262 Neighboring gene Sharpr-MPRA regulatory region 14531 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:50894096-50895295 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:50905976-50907175 Neighboring gene ribosomal protein L39 pseudogene 23

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Himmelreich N, et al. Mol Genet Metab, 2023 Jul. PMID 37348148
  2. Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review. Abukhaled M, et al. Eur J Pediatr, 2023 Jun. PMID 36928758, Free PMC Article
  3. Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations. Himmelreich N, et al. Mol Genet Metab, 2022 Dec. PMID 36427457
  4. Symptoms and impacts of aromatic L-amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function. Williams K, et al. Orphanet J Rare Dis, 2022 Mar 21. PMID 35313922, Free PMC Article
  5. Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience. Burlina A, et al. Mol Genet Metab, 2021 May. PMID 33744095

See all (130) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.
    Title: Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.
  2. L-Dopa decarboxylase modulates autophagy in hepatocytes and is implicated in dengue virus-caused inhibition of autophagy completion.
    Title: L-Dopa decarboxylase modulates autophagy in hepatocytes and is implicated in dengue virus-caused inhibition of autophagy completion.
  3. DOPA decarboxylase is an emerging biomarker for Parkinsonian disorders including preclinical Lewy body disease.
    Title: DOPA decarboxylase is an emerging biomarker for Parkinsonian disorders including preclinical Lewy body disease.
  4. Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study.
    Title: Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study.
  5. RNA modification regulator DDC in endometrial cancer affects the tumor microenvironment and patient prognosis.
    Title: RNA modification regulator DDC in endometrial cancer affects the tumor microenvironment and patient prognosis.
  6. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
    Title: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
  7. Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
    Title: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
  8. Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.
    Title: Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.
  9. Symptoms and impacts of aromatic L-amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function.
    Title: Symptoms and impacts of aromatic L-amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function.
  10. Alteration of L-Dopa decarboxylase expression in SARS-CoV-2 infection and its association with the interferon-inducible ACE2 isoform.
    Title: Alteration of L-Dopa decarboxylase expression in SARS-CoV-2 infection and its association with the interferon-inducible ACE2 isoform.
Submit: New GeneRIF Correction See all GeneRIFs (92)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genetic locus in 7p12.2 associated with treatment resistant schizophrenia.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genome-wide and fine-resolution association analysis of malaria in West Africa.
EBI GWAS Catalog
Germline genomic variants associated with childhood acute lymphoblastic leukemia.
EBI GWAS Catalog
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
EBI GWAS Catalog
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 5-hydroxy-L-tryptophan decarboxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables L-dopa decarboxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables aromatic-L-amino-acid decarboxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables aromatic-L-amino-acid decarboxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in amino acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in carboxylic acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in catecholamine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in dopamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in kidney development IEA
Inferred from Electronic Annotation
more info
  
involved_in response to toxic substance IEA
Inferred from Electronic Annotation
more info
  
involved_in serotonin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
aromatic-L-amino-acid decarboxylase
Names
dopa decarboxylase (aromatic L-amino acid decarboxylase)
NP_000781.2
NP_001076440.2
NP_001229815.2
NP_001229816.2
NP_001229817.2
NP_001229818.2
NP_001229819.2
XP_005271802.1
XP_047275887.1
XP_047275888.1
XP_054213346.1
XP_054213347.1
XP_054213348.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008742.2 RefSeqGene

    Range
    5000..111963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000790.4 → NP_000781.2  aromatic-L-amino-acid decarboxylase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) and variant 1 encode the same isoform (1).
    Source sequence(s)
    AC018705
    Consensus CDS
    CCDS5511.1
    UniProtKB/Swiss-Prot
    C9IYA0, E7ER62, E7EU95, P20711, Q16723, Q5W5T9, Q75MJ6
    UniProtKB/TrEMBL
    A0A0S2Z3N4, Q6IBS8
    Related
    ENSP00000350616.5, ENST00000357936.9
    Conserved Domains (1) summary
    pfam00282
    Location:35 → 414
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

  2. NM_001082971.2 → NP_001076440.2  aromatic-L-amino-acid decarboxylase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has an alternate 5' UTR exon and encodes the same isoform (1), compared to variant 2.
    Source sequence(s)
    AC018705
    Consensus CDS
    CCDS5511.1
    UniProtKB/Swiss-Prot
    C9IYA0, E7ER62, E7EU95, P20711, Q16723, Q5W5T9, Q75MJ6
    UniProtKB/TrEMBL
    A0A0S2Z3N4, Q6IBS8
    Related
    ENSP00000403644.2, ENST00000444124.7
    Conserved Domains (1) summary
    pfam00282
    Location:35 → 414
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

  3. NM_001242886.2 → NP_001229815.2  aromatic-L-amino-acid decarboxylase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon, compared to variant 2. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC018705
    Consensus CDS
    CCDS75598.1
    UniProtKB/TrEMBL
    A0A087WV24, A0A7L4XVG2
    Related
    ENSP00000479110.1, ENST00000622873.4
    Conserved Domains (1) summary
    pfam00282
    Location:35 → 376
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

  4. NM_001242887.2 → NP_001229816.2  aromatic-L-amino-acid decarboxylase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame coding exon, compared to variant 2. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC018705
    Consensus CDS
    CCDS75599.1
    UniProtKB/TrEMBL
    A0A087WU57, A0A3S6D691
    Related
    ENSP00000478385.1, ENST00000617822.4
    Conserved Domains (1) summary
    pfam00282
    Location:35 → 366
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

  5. NM_001242888.2 → NP_001229817.2  aromatic-L-amino-acid decarboxylase isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks in-frame two consecutive coding exons, compared to variant 2. The resulting isoform (4) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC018705
    Consensus CDS
    CCDS56485.1
    UniProtKB/TrEMBL
    A0A3S5X9I4
    Related
    ENSP00000395069.1, ENST00000426377.5
    Conserved Domains (1) summary
    pfam00282
    Location:35 → 336
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

  6. NM_001242889.2 → NP_001229818.2  aromatic-L-amino-acid decarboxylase isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks in-frame two consecutive coding exons, compared to variant 2. The resulting isoform (5) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC018705
    Consensus CDS
    CCDS56486.1
    UniProtKB/TrEMBL
    B4DPL5
    Related
    ENSP00000484104.1, ENST00000615193.4
    Conserved Domains (1) summary
    cl18945
    Location:1 → 382
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

  7. NM_001242890.2 → NP_001229819.2  aromatic-L-amino-acid decarboxylase isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks several 3' exons and has an alternate 3' exon, compared to variant 2. The resulting isoform (6) has a distinct and shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AC018705
    Consensus CDS
    CCDS56487.1
    Related
    ENSP00000370371.4, ENST00000380984.4
    Conserved Domains (1) summary
    pfam00282
    Location:35 → 319
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    50458442..50565405 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271745.5 → XP_005271802.1  aromatic-L-amino-acid decarboxylase isoform X2

    UniProtKB/TrEMBL
    A0A087WV24, A0A7L4XVG2
    Conserved Domains (1) summary
    pfam00282
    Location:35 → 376
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

  2. XM_047419932.1 → XP_047275888.1  aromatic-L-amino-acid decarboxylase isoform X3

  3. XM_047419931.1 → XP_047275887.1  aromatic-L-amino-acid decarboxylase isoform X1

    UniProtKB/Swiss-Prot
    C9IYA0, E7ER62, E7EU95, P20711, Q16723, Q5W5T9, Q75MJ6
    UniProtKB/TrEMBL
    A0A0S2Z3N4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    50619658..50726621 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357372.1 → XP_054213347.1  aromatic-L-amino-acid decarboxylase isoform X2

  2. XM_054357373.1 → XP_054213348.1  aromatic-L-amino-acid decarboxylase isoform X3

  3. XM_054357371.1 → XP_054213346.1  aromatic-L-amino-acid decarboxylase isoform X1

    UniProtKB/TrEMBL
    Q53Y41
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20711.2 GenPept UniProtKB/Swiss-Prot:P20711

Gene LinkOut

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