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DAO D-amino acid oxidase [ Homo sapiens (human) ]

Gene ID: 1610, updated on 18-May-2023

Summary

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Official Symbol
DAOprovided by HGNC
Official Full Name
D-amino acid oxidaseprovided by HGNC
Primary source
HGNC:HGNC:2671
See related
Ensembl:ENSG00000110887 MIM:124050; AllianceGenome:HGNC:2671
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
DAAO; OXDA; DAMOX
Summary
This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]
Expression
Biased expression in kidney (RPKM 37.6) and liver (RPKM 29.1) See more
Orthologs
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Genomic context

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See DAO in Genome Data Viewer
Location:
12q24.11
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (108880092..108901043)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (108854786..108875798)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (109273868..109294819)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene slingshot protein phosphatase 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:109247741-109248940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109250055-109250556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109273628-109274245 Neighboring gene uncharacterized LOC124903011 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:109300977-109301477 Neighboring gene NANOG hESC enhancer GRCh37_chr12:109311835-109312350 Neighboring gene SV2 related protein

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. Blood D-Amino Acid Oxidase Levels Increased With Cognitive Decline Among People With Mild Cognitive Impairment: A Two-Year Prospective Study. Lin CH, et al. Int J Neuropsychopharmacol, 2022 Aug 16. PMID 35430632, Free PMC Article
  2. Association of the D-amino acid oxidase gene with methadone dose in heroin dependent patients under methadone maintenance treatment. Liu TH, et al. J Hum Genet, 2022 May. PMID 34983973
  3. Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis. Padhi AK, et al. Sci Rep, 2020 Oct 13. PMID 33051492, Free PMC Article
  4. Human diamine oxidase is readily released from activated neutrophils ex vivo and in vivo but is rarely elevated in bacteremic patients. Boehm T, et al. Int J Immunopathol Pharmacol, 2020 Jan-Dec. PMID 32997559, Free PMC Article
  5. Histamine Intolerance: The Current State of the Art. Comas-Basté O, et al. Biomolecules, 2020 Aug 14. PMID 32824107, Free PMC Article

See all (98) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Blood D-Amino Acid Oxidase Levels Increased With Cognitive Decline Among People With Mild Cognitive Impairment: A Two-Year Prospective Study.
    Title: Blood D-Amino Acid Oxidase Levels Increased With Cognitive Decline Among People With Mild Cognitive Impairment: A Two-Year Prospective Study.
  2. Association of the D-amino acid oxidase gene with methadone dose in heroin dependent patients under methadone maintenance treatment.
    Title: Association of the D-amino acid oxidase gene with methadone dose in heroin dependent patients under methadone maintenance treatment.
  3. Human diamine oxidase is readily released from activated neutrophils ex vivo and in vivo but is rarely elevated in bacteremic patients.
    Title: Human diamine oxidase is readily released from activated neutrophils ex vivo and in vivo but is rarely elevated in bacteremic patients.
  4. Histamine Intolerance: The Current State of the Art.
    Title: Histamine Intolerance: The Current State of the Art.
  5. Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis.
    Title: Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis.
  6. P219L substitution in human D-amino acid oxidase impacts the ligand binding and catalytic efficiency.
    Title: P219L substitution in human D-amino acid oxidase impacts the ligand binding and catalytic efficiency.
  7. Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians.
    Title: Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians.
  8. Fabrication of a porous polymer membrane enzyme reactor and its enzymatic kinetics study in an artificial kidney model.
    Title: Fabrication of a porous polymer membrane enzyme reactor and its enzymatic kinetics study in an artificial kidney model.
  9. Is the primate-specific protein pLG72 affecting SOD1 functionality and superoxide formation?
    Title: Is the primate-specific protein pLG72 affecting SOD1 functionality and superoxide formation?
  10. These results indicate that DAO promotes senescence through the enzymatic ROS generation, and its activity is regulated by the availability of its substrate and coenzyme.
    Title: d-amino acid oxidase promotes cellular senescence via the production of reactive oxygen species.
Submit: New GeneRIF Correction See all GeneRIFs (63)

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

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

  • MGC35381

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables D-amino-acid oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables D-amino-acid oxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables FAD binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in D-alanine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in D-alanine catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in D-serine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in D-serine catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in D-serine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in dopamine biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proline catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in proline catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
colocalizes_with mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
  
located_in peroxisomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
D-amino-acid oxidase
NP_001400563.1
NP_001400564.1
NP_001908.3
XP_005268749.1
XP_011536306.1
XP_054227282.1
XP_054227283.1

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.

Genomic

  1. NG_023236.1 RefSeqGene

    Range
    5012..25963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001413634.1 → NP_001400563.1  D-amino-acid oxidase isoform a

    Status: REVIEWED

    Source sequence(s)
    AC087893
    UniProtKB/Swiss-Prot
    Q8N6R2
    UniProtKB/TrEMBL
    A0A024RBI1

  2. NM_001413635.1 → NP_001400564.1  D-amino-acid oxidase isoform b

    Status: REVIEWED

    Source sequence(s)
    AC087893
    UniProtKB/TrEMBL
    A0A0S2Z3J4

  3. NM_001917.5 → NP_001908.3  D-amino-acid oxidase isoform a

    See identical proteins and their annotated locations for NP_001908.3

    Status: REVIEWED

    Source sequence(s)
    AC087893, BC029057, BM932083, DA085245
    Consensus CDS
    CCDS9122.1
    UniProtKB/Swiss-Prot
    P14920, Q8N6R2
    UniProtKB/TrEMBL
    A0A024RBI1
    Related
    ENSP00000228476.3, ENST00000228476.8
    Conserved Domains (1) summary
    pfam01266
    Location:2 → 329
    DAO; FAD dependent oxidoreductase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    108880092..108901043
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538004.3 → XP_011536306.1  D-amino-acid oxidase isoform X1

    See identical proteins and their annotated locations for XP_011536306.1

    UniProtKB/Swiss-Prot
    P14920, Q8N6R2
    UniProtKB/TrEMBL
    A0A024RBI1
    Conserved Domains (1) summary
    pfam01266
    Location:2 → 329
    DAO; FAD dependent oxidoreductase

  2. XM_005268692.5 → XP_005268749.1  D-amino-acid oxidase isoform X2

    Related
    ENSP00000446853.1, ENST00000551281.5
    Conserved Domains (1) summary
    pfam01266
    Location:2 → 307
    DAO; FAD dependent oxidoreductase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    108854786..108875798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371307.1 → XP_054227282.1  D-amino-acid oxidase isoform X1

    UniProtKB/Swiss-Prot
    Q8N6R2
    UniProtKB/TrEMBL
    A0A024RBI1

  2. XM_054371308.1 → XP_054227283.1  D-amino-acid oxidase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P14920.3 GenPept UniProtKB/Swiss-Prot:P14920

Gene LinkOut

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