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DDC dopa decarboxylase [ Homo sapiens (human) ]

Gene ID: 1644, updated on 15-Dec-2018

Summary

Official Symbol
DDCprovided by HGNC
Official Full Name
dopa decarboxylaseprovided by HGNC
Primary source
HGNC:HGNC:2719
See related
Ensembl:ENSG00000132437 MIM:107930
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

Genomic context

See DDC in Genome Data Viewer
Location:
7p12.2-p12.1
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (50458436..50565460, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (50526134..50633154, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1091, pseudogene Neighboring gene fidgetin like 1 Neighboring gene VISTA enhancer hs2059 Neighboring gene DDC antisense RNA 1 Neighboring gene growth factor receptor bound protein 10 Neighboring gene ribosomal protein L39 pseudogene 23

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deficiency of aromatic-L-amino-acid decarboxylase
MedGen: C1291564 OMIM: 608643 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-dopa decarboxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
amino acid binding IEA
Inferred from Electronic Annotation
more info
 
aromatic-L-amino-acid decarboxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
aromatic-L-amino-acid decarboxylase activity TAS
Traceable Author Statement
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aminergic neurotransmitter loading into synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 
catecholamine biosynthetic process TAS
Traceable Author Statement
more info
 
cellular amino acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to alkaloid IEA
Inferred from Electronic Annotation
more info
 
cellular response to drug IEA
Inferred from Electronic Annotation
more info
 
cellular response to growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
dopamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
indolalkylamine biosynthetic process TAS
Traceable Author Statement
more info
 
isoquinoline alkaloid metabolic process IEA
Inferred from Electronic Annotation
more info
 
multicellular organism aging IEA
Inferred from Electronic Annotation
more info
 
phytoalexin metabolic process IEA
Inferred from Electronic Annotation
more info
 
response to pyrethroid IEA
Inferred from Electronic Annotation
more info
 
serotonin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
aromatic-L-amino-acid decarboxylase
Names
dopa decarboxylase (aromatic L-amino acid decarboxylase)
NP_000781.1
NP_001229815.1
NP_001229816.1
NP_001229817.1
NP_001229818.1
NP_001229819.1
XP_005271802.1
XP_011513463.2

NCBI Reference Sequences (RefSeq)

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_008742.1 RefSeqGene

    Range
    5001..112021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000790.3NP_000781.1  aromatic-L-amino-acid decarboxylase isoform 1

    See identical proteins and their annotated locations for NP_000781.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) and variant 1 encode the same isoform (1).
    Source sequence(s)
    AU310260, BC008366
    Consensus CDS
    CCDS5511.1
    UniProtKB/Swiss-Prot
    P20711
    UniProtKB/TrEMBL
    Q53Y41
    Related
    ENSP00000350616.5, ENST00000357936.9
    Conserved Domains (1) summary
    pfam00282
    Location:35414
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
  2. NM_001082971.2NP_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
    Related
    ENSP00000403644.2, ENST00000444124.6
    Conserved Domains (1) summary
    pfam00282
    Location:35414
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
  3. NM_001242886.1NP_001229815.1  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)
    BC000485, CD013936, DC362073
    Consensus CDS
    CCDS75598.1
    UniProtKB/Swiss-Prot
    P20711
    Related
    ENSP00000479110.1, ENST00000622873.4
    Conserved Domains (1) summary
    pfam00282
    Location:35376
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
  4. NM_001242887.1NP_001229816.1  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)
    BC000485, CD013937, DC362073
    Consensus CDS
    CCDS75599.1
    UniProtKB/Swiss-Prot
    P20711
    Related
    ENSP00000478385.1, ENST00000617822.4
    Conserved Domains (1) summary
    pfam00282
    Location:35366
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
  5. NM_001242888.1NP_001229817.1  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)
    BC000485, CD013934, DC362073
    Consensus CDS
    CCDS56485.1
    UniProtKB/Swiss-Prot
    P20711
    Related
    ENSP00000395069.1, ENST00000426377.5
    Conserved Domains (1) summary
    pfam00282
    Location:35336
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
  6. NM_001242889.1NP_001229818.1  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)
    BC000485, CD013935, DC362073
    Consensus CDS
    CCDS56486.1
    UniProtKB/Swiss-Prot
    P20711
    Related
    ENSP00000484104.1, ENST00000615193.4
    Conserved Domains (1) summary
    cl18945
    Location:1382
    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_001242890.1NP_001229819.1  aromatic-L-amino-acid decarboxylase isoform 6

    See identical proteins and their annotated locations for NP_001229819.1

    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)
    AJ310724, DC362073
    Consensus CDS
    CCDS56487.1
    UniProtKB/Swiss-Prot
    P20711
    Related
    ENSP00000370371.4, ENST00000380984.4
    Conserved Domains (1) summary
    pfam00282
    Location:35319
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    50458436..50565460 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271745.4XP_005271802.1  aromatic-L-amino-acid decarboxylase isoform X2

    UniProtKB/TrEMBL
    A0A087WV24
    Conserved Domains (1) summary
    pfam00282
    Location:35376
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
  2. XM_011515161.2XP_011513463.2  aromatic-L-amino-acid decarboxylase isoform X1

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