DDC

Protein identityUniProt · HPA

UniProt accession

P20711

Gene

DDC

Ensembl

ENSG00000132437

Chromosome

7

Canonical length

480 aa

Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Actin filaments,Primary cilium

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

480 residues, UniProt reviewed canonical sequence.

>P20711|DDC
     1  MNASEFRRRG KEMVDYMANY MEGIEGRQVY PDVEPGYLRP LIPAAAPQEP DTFEDIINDV
    61  EKIIMPGVTH WHSPYFFAYF PTASSYPAML ADMLCGAIGC IGFSWAASPA CTELETVMMD
   121  WLGKMLELPK AFLNEKAGEG GGVIQGSASE ATLVALLAAR TKVIHRLQAA SPELTQAAIM
   181  EKLVAYSSDQ AHSSVERAGL IGGVKLKAIP SDGNFAMRAS ALQEALERDK AAGLIPFFMV
   241  ATLGTTTCCS FDNLLEVGPI CNKEDIWLHV DAAYAGSAFI CPEFRHLLNG VEFADSFNFN
   301  PHKWLLVNFD CSAMWVKKRT DLTGAFRLDP TYLKHSHQDS GLITDYRHWQ IPLGRRFRSL
   361  KMWFVFRMYG VKGLQAYIRK HVQLSHEFES LVRQDPRFEI CVEVILGLVC FRLKGSNKVN
   421  EALLQRINSA KKIHLVPCHL RDKFVLRFAI CSRTVESAHV QRAWEHIKEL AADVLRAERE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DDC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

294 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DDC.

Disease | AllUniProt

Conditions DDC is implicated in, by any mechanism.

• Aromatic L-amino-acid decarboxylase deficiency (AADCD) MIM:608643

Disease | GeneticClinVar

92 pathogenic / likely-pathogenic of 665 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Deficiency of aromatic-L-amino-acid decarboxylase
• Inborn genetic diseases
• See cases
• RASopathy

ReferencesPubMed · IEDB

Publications for DDC from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.92

gnomAD pLI

0

gnomAD missense Z

0.41

DepMap mean gene effect

0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amino acid metabolic process
• carboxylic acid metabolic process
• catecholamine metabolic process
• dopamine biosynthetic process
• gene expression
• kidney development
• response to toxic substance
• serotonin biosynthetic process

Molecular functions

• enzyme binding
• pyridoxal phosphate binding
• 5-hydroxy-L-tryptophan decarboxylase activity
• aromatic-L-amino-acid decarboxylase activity
• L-dopa decarboxylase activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• Pyridoxal phosphate-dependent decarboxylase, major domain
• Aromatic-L-amino-acid decarboxylase
• Pyridoxal phosphate-dependent transferase, major domain
• Pyridoxal phosphate-dependent transferase, small domain
• Pyridoxal phosphate-dependent transferase
• Pyridoxal-phosphate binding site
• Pyridoxal-dependent decarboxylase conserved domain

KeywordsUniProt

• Acetylation
• Catecholamine biosynthesis
• Decarboxylase
• Lyase
• Pyridoxal phosphate
• Repeat