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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
    mouse all
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    Genomic context

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    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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    NEW Try the new Transcript table

    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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