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    Ddc dopa decarboxylase [ Mus musculus (house mouse) ]

    Gene ID: 13195, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Ddcprovided by MGI
    Official Full Name
    dopa decarboxylaseprovided by MGI
    Primary source
    MGI:MGI:94876
    See related
    Ensembl:ENSMUSG00000020182 AllianceGenome:MGI:94876
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Aadc
    Summary
    Enables aromatic-L-amino-acid decarboxylase activity. Acts upstream of or within response to toxic substance. Located in cytoplasm. Is expressed in several structures, including alimentary system; heart; nervous system; respiratory system; and sensory organ. Used to study aromatic L-amino acid decarboxylase deficiency. Human ortholog(s) of this gene implicated in Parkinson's disease; aromatic L-amino acid decarboxylase deficiency; bipolar disorder; and inherited metabolic disorder. Orthologous to human DDC (dopa decarboxylase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in kidney adult (RPKM 29.2), liver adult (RPKM 20.2) and 16 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ddc in Genome Data Viewer
    Location:
    11 A1; 11 7.09 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (11764101..11848144, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (11814101..11898144, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:11611793-11612034 Neighboring gene STARR-positive B cell enhancer ABC_E5207 Neighboring gene predicted gene 12000 Neighboring gene IKAROS family zinc finger 1 Neighboring gene STARR-positive B cell enhancer ABC_E3931 Neighboring gene STARR-positive B cell enhancer mm9_chr11:11666148-11666448 Neighboring gene STARR-positive B cell enhancer ABC_E6952 Neighboring gene STARR-seq mESC enhancer starr_28598 Neighboring gene fidgetin-like 1 Neighboring gene STARR-seq mESC enhancer starr_28601 Neighboring gene STARR-seq mESC enhancer starr_28602 Neighboring gene predicted gene, 51937 Neighboring gene RIKEN cDNA 1700042O10 gene Neighboring gene STARR-seq mESC enhancer starr_28608 Neighboring gene STARR-seq mESC enhancer starr_28612 Neighboring gene predicted gene, 25058 Neighboring gene VISTA enhancer mm154 Neighboring gene uncharacterized LOC102631979 Neighboring gene VISTA enhancer mm178 Neighboring gene growth factor receptor bound protein 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Electrical Abnormalities in Dopaminergic Neurons of the Substantia Nigra in Mice With an Aromatic L-Amino Acid Decarboxylase Deficiency. Ho SY, et al. Front Cell Neurosci, 2019. PMID 30766478, Free PMC Article
    2. A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency. Caine C, et al. Hum Mol Genet, 2017 Nov 15. PMID 28973165, Free PMC Article
    3. Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency. Lee NC, et al. Neurobiol Dis, 2013 Apr. PMID 23275025
    4. Intrarenal dopamine deficiency leads to hypertension and decreased longevity in mice. Zhang MZ, et al. J Clin Invest, 2011 Jul. PMID 21701066, Free PMC Article
    5. Opposite sexual dimorphism of 3,4-dihydroxyphenylalanine decarboxylase in the kidney and small intestine of mice. López-Contreras AJ, et al. J Endocrinol, 2008 Mar. PMID 18310457

    See all (95) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effects of Venlafaxine on the Size of Brain and Expression of SHANK3, TUBB5 and DDC Genes in BALB/c Mice.
      Title: Effects of Venlafaxine on the Size of Brain and Expression of SHANK3, TUBB5 and DDC Genes in BALB/c Mice.
    2. Metastasis-associated protein 1 (MTA1) regulates the catecholamine production homeostasis via transcriptional repression of aromatic l-amino acid decarboxylase (Aadc) in the interstitial cells of Cajal of mouse prostate.
      Title: Metastasis-associated protein 1 (MTA1) regulates the catecholamine production homeostasis via transcriptional repression of aromatic l-amino acid decarboxylase (Aadc) in the interstitial cells of Cajal of mouse prostate.
    3. We found that only the modified U1 snRNA (IVS-AAA) that completely matched both the intronic and exonic U1 binding sequences of the mutated DDC gene could correct splicing errors of either the mutated human DDC minigene or the mouse artificial splicing construct in vitro
      Title: Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.
    4. The data show that endothelial AADC plays an important role in cardiac synthesis of 5-HT and possibly in 5-HT-dependent regulation of nitric oxide generation.
      Title: Role of endothelial AADC in cardiac synthesis of serotonin and nitrates accumulation.
    5. Mash1 plays an important role in regulating the expression of AADC in type III cells in taste buds.
      Title: Mash1 is required for the differentiation of AADC-positive type III cells in mouse taste buds.
    6. evidence for PKGIalpha-dependent phosphorylation and activation of neuronal AAAD in vitro, and introduce AAAD as a putative PKGIalpha substrate.
      Title: Aromatic L-amino acid decarboxylase phosphorylation and activation by PKGIalpha in vitro.
    7. the fact that renal DDC inversely correlated with renal sodium reabsorption suggest that renal and intestinal gender dimorphism in DDC could be related to sex-related differences in sodium balance observed between males and females
      Title: Opposite sexual dimorphism of 3,4-dihydroxyphenylalanine decarboxylase in the kidney and small intestine of mice.
    8. analysis of Ddc redefines the imprinted Grb10 domain on mouse proximal chromosome 11 and identifies Ddc_exon1a as the first example of a heart-specific imprinted gene
      Title: Genomic imprinting of Dopa decarboxylase in heart and reciprocal allelic expression with neighboring Grb10.
    9. Data suggest a possible participation of aromatic L-amino acid decarboxylase (AADC) in the regulation of catecholamine biosynthesis in stellate ganglia of repeatedly stressed mice.
      Title: Identification of the aromatic L-amino acid decarboxylase gene expression in various mice tissues and its modulation by immobilization stress in stellate ganglia.
    10. Results suggest that AADC expression begins at early stages of taste bud cell differentiation, and biogenic amines may act on taste bud differentiation of tongue epithelial cells, and further may regulate innervation of taste bud progenitor cells.
      Title: Immunohistochemical localization of aromatic L-amino acid decarboxylase in mouse taste buds and developing taste papillae.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 5-hydroxy-L-tryptophan decarboxylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables L-dopa decarboxylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables amino acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 aromatic-L-amino-acid decarboxylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables carbon-carbon lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables carboxy-lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables pyridoxal phosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in aminergic neurotransmitter loading into synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    		  
    acts_upstream_of_or_within catecholamine biosynthetic 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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within response to toxic substance IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in serotonin biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in serotonin biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    aromatic-L-amino-acid decarboxylase
    NP_001177377.1
    NP_001404386.1
    NP_001404387.1
    NP_001404388.1
    NP_057881.1

    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.

    mRNA and Protein(s)

    1. NM_001190448.1 → NP_001177377.1  aromatic-L-amino-acid decarboxylase

      See identical proteins and their annotated locations for NP_001177377.1

      Status: VALIDATED

      Source sequence(s)
      AL596450, AL645803
      Consensus CDS
      CCDS24439.1
      UniProtKB/Swiss-Prot
      O88533
      UniProtKB/TrEMBL
      Q5SUV8
      Related
      ENSMUSP00000136467.2, ENSMUST00000178704.8
      Conserved Domains (1) summary
      pfam00282
      Location:35 → 414
      Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

    2. NM_001417457.1 → NP_001404386.1  aromatic-L-amino-acid decarboxylase

      Status: VALIDATED

      Source sequence(s)
      AL596450, AL645803
      UniProtKB/Swiss-Prot
      O88533
      UniProtKB/TrEMBL
      Q5SUV8

    3. NM_001417458.1 → NP_001404387.1  aromatic-L-amino-acid decarboxylase

      Status: VALIDATED

      Source sequence(s)
      AL596450, AL645803
      UniProtKB/Swiss-Prot
      O88533
      UniProtKB/TrEMBL
      Q5SUV8

    4. NM_001417459.1 → NP_001404388.1  aromatic-L-amino-acid decarboxylase

      Status: VALIDATED

      Source sequence(s)
      AL596450, AL645803
      UniProtKB/Swiss-Prot
      O88533
      UniProtKB/TrEMBL
      Q5SUV8

    5. NM_016672.5 → NP_057881.1  aromatic-L-amino-acid decarboxylase

      See identical proteins and their annotated locations for NP_057881.1

      Status: VALIDATED

      Source sequence(s)
      AL596450, AL645803
      Consensus CDS
      CCDS24439.1
      UniProtKB/Swiss-Prot
      O88533
      UniProtKB/TrEMBL
      Q5SUV8
      Related
      ENSMUSP00000105286.3, ENSMUST00000109659.9
      Conserved Domains (1) summary
      pfam00282
      Location:35 → 414
      Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      11764101..11848144 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O88533.1 GenPept UniProtKB/Swiss-Prot:O88533

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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