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    DDO D-aspartate oxidase [ Homo sapiens (human) ]

    Gene ID: 8528, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DDOprovided by HGNC
    Official Full Name
    D-aspartate oxidaseprovided by HGNC
    Primary source
    HGNC:HGNC:2727
    See related
    Ensembl:ENSG00000203797 MIM:124450; AllianceGenome:HGNC:2727
    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
    DASOX; DASPO; DDO-1; DDO-2
    Summary
    The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2019]
    Expression
    Broad expression in heart (RPKM 7.9), kidney (RPKM 5.9) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DDO in Genome Data Viewer
    Location:
    6q21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (110388321..110415575, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (111566803..111594070, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (110709524..110736778, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377937 Neighboring gene MPRA-validated peak6023 silencer Neighboring gene methyltransferase like 24 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:110591233-110591734 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:110644043-110644650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:110651303-110651803 Neighboring gene uncharacterized LOC102724586 Neighboring gene Sharpr-MPRA regulatory region 3191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:110729777-110730278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:110730279-110730778 Neighboring gene uncharacterized LOC105377936 Neighboring gene solute carrier family 22 member 16 Neighboring gene RNA, 7SL, cytoplasmic 617, pseudogene

    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 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. The genetic and biochemical properties of the D-amino acid oxidases in human tissues. Barker RF, et al. Ann Hum Genet, 1977 Jul. PMID 21608
    2. Cellular studies of the two main isoforms of human d-aspartate oxidase. Rabattoni V, et al. FEBS J, 2021 Aug. PMID 33650155
    3. Structure and kinetic properties of human d-aspartate oxidase, the enzyme-controlling d-aspartate levels in brain. Molla G, et al. FASEB J, 2020 Jan. PMID 31914658
    4. Structure-function relationships in human d-aspartate oxidase: characterisation of variants corresponding to known single nucleotide polymorphisms. Katane M, et al. Biochim Biophys Acta Proteins Proteom, 2017 Sep. PMID 28629864
    5. Decreased free d-aspartate levels are linked to enhanced d-aspartate oxidase activity in the dorsolateral prefrontal cortex of schizophrenia patients. Nuzzo T, et al. NPJ Schizophr, 2017. PMID 28560262, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. On the regulation of human D-aspartate oxidase.
      Title: On the regulation of human D-aspartate oxidase.
    2. Genetic variants in DDO and PEX5L in peroxisome-related pathways predict non-small cell lung cancer survival.
      Title: Genetic variants in DDO and PEX5L in peroxisome-related pathways predict non-small cell lung cancer survival.
    3. D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans.
      Title: D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans.
    4. Cellular studies of the two main isoforms of human d-aspartate oxidase.
      Title: Cellular studies of the two main isoforms of human d-aspartate oxidase.
    5. three-dimensional structural analysis contributes insights into the structure-function relationships of human DASPO
      Title: Structure and kinetic properties of human d-aspartate oxidase, the enzyme-controlling d-aspartate levels in brain.
    6. The strongest DNA methylation changes in atopic asthma were detected in the promoter region of SMAD3 gene at chr 15q22.33 and introns of DDO/METTL24 genes at 6q21.
      Title: Atopic asthma after rhinovirus-induced wheezing is associated with DNA methylation change in the SMAD3 gene promoter.
    7. This study is the first to report robust age associations for DNA methylation in MYOF and DDO, both of which have plausible functional roles in aging
      Title: Methylome-wide association study of whole blood DNA in the Norfolk Island isolate identifies robust loci associated with age.
    8. SNPSs R216Q and S308N reduce enzyme activity towards acidic d-amino acids, decrease the binding affinity for the coenzyme flavin adenine dinucleotide and decrease the temperature stability. Expression of DDO genes carrying the R216Q or S308N SNP substitutions may increase the d-aspartate content in humans and alter homeostasis of several other amino acids.
      Title: Structure-function relationships in human d-aspartate oxidase: characterisation of variants corresponding to known single nucleotide polymorphisms.
    9. Characterization of the enzymatic and structural properties of human D-aspartate oxidase and comparison with those of the rat and mouse enzymes
      Title: Characterization of the enzymatic and structural properties of human D-aspartate oxidase and comparison with those of the rat and mouse enzymes.
    10. There is a significant increase in DDO mRNA expression in the prefrontal cortex of patients with schizophrenia compared to controls.
      Title: A role for D-aspartate oxidase in schizophrenia and in schizophrenia-related symptoms induced by phencyclidine in mice.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of D-aspartate oxidase (DDO) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Clone Names

    • FLJ45203

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables D-aspartate oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables D-aspartate oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables D-glutamate oxidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables FAD binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in D-amino acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in D-amino acid catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in aspartate catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in grooming behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hormone metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in insemination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell communication IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in peroxisomal matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in peroxisomal matrix TAS
    Traceable Author Statement
    more info
    		  
    is_active_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    D-aspartate oxidase
    Names
    D-aspartate oxidase, DDO
    aspartic oxidase
    NP_001355099.1
    NP_001355100.1
    NP_001355101.1
    NP_001355102.1
    NP_001355103.1
    NP_001355104.1
    NP_001359037.1
    NP_004023.3

    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_001368170.1 → NP_001355099.1  D-aspartate oxidase isoform c

      Status: REVIEWED

      Source sequence(s)
      AL050350

    2. NM_001368171.1 → NP_001355100.1  D-aspartate oxidase isoform d

      Status: REVIEWED

      Source sequence(s)
      AL050350

    3. NM_001368172.1 → NP_001355101.1  D-aspartate oxidase isoform e

      Status: REVIEWED

      Source sequence(s)
      AL050350

    4. NM_001368173.1 → NP_001355102.1  D-aspartate oxidase isoform f

      Status: REVIEWED

      Source sequence(s)
      AL050350

    5. NM_001368174.1 → NP_001355103.1  D-aspartate oxidase isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 8 and 9, encodes isoform g.
      Source sequence(s)
      AL050350

    6. NM_001368175.1 → NP_001355104.1  D-aspartate oxidase isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 7 and 9, encodes isoform g.
      Source sequence(s)
      AL050350

    7. NM_001372108.2 → NP_001359037.1  D-aspartate oxidase isoform h

      Status: REVIEWED

      Source sequence(s)
      AL050350
      Consensus CDS
      CCDS5082.2
      UniProtKB/Swiss-Prot
      A8KAG4, Q5JXM4, Q5JXM5, Q5JXM6, Q8N552, Q99489
      UniProtKB/TrEMBL
      C9K4X7
      Related
      ENSP00000357920.4, ENST00000368924.9
      Conserved Domains (1) summary
      pfam01266
      Location:30 → 324
      DAO; FAD dependent oxidoreductase

    8. NM_004032.3 → NP_004023.3  D-aspartate oxidase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AL050350
      Consensus CDS
      CCDS5083.2
      Related
      ENSP00000357919.4, ENST00000368923.8

    RNA

    1. NR_160546.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL050350

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      110388321..110415575 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      111566803..111594070 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_003649.3: Suppressed sequence

      Description
      NM_003649.3: This RefSeq was removed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99489.1 GenPept UniProtKB/Swiss-Prot:Q99489

    Gene LinkOut

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

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