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

Summary

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: mouse all
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Genomic context

Location:: 12q24.11

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (108880092..108901043)
RS_2023_10	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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Aggregation of E121K mutant D-amino acid oxidase and ubiquitination-mediated autophagy mechanisms leading to amyotrophic lateral sclerosis.
Title: Aggregation of E121K mutant D-amino acid oxidase and ubiquitination-mediated autophagy mechanisms leading to amyotrophic lateral sclerosis.
Characterization of E121K mutation of D-amino acid oxidase - Insights into mechanisms leading to amyotrophic lateral sclerosis.
Title: Characterization of E121K mutation of D-amino acid oxidase - Insights into mechanisms leading to amyotrophic lateral sclerosis.
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.
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.
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.
Histamine Intolerance: The Current State of the Art.
Title: Histamine Intolerance: The Current State of the Art.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (65)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC35423 (e-PCR)
- UniSTS:26114

D12S105 (e-PCR), detects polymorphism
- UniSTS:81166

STS-X13227 (e-PCR)
- UniSTS:31762

27-2 (e-PCR)
- UniSTS:240681

27-29 (e-PCR)
- UniSTS:240682

NoName (e-PCR)
- UniSTS:481914

D12S105 (e-PCR), detects polymorphism
- UniSTS:32678

GDB:384833 (e-PCR)
- UniSTS:157103

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-amino-acid oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables D-amino-acid oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables D-amino-acid oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables FAD binding	IDA Inferred from Direct Assay more info	PubMed
enables FAD binding	IMP Inferred from Mutant Phenotype 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
involved_in D-alanine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in D-amino acid 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
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 digestion	ISS Inferred from Sequence or Structural Similarity more info
involved_in dopamine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in neutrophil-mediated killing of gram-negative bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in proline catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proline catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation 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 cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
colocalizes_with mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal matrix	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in peroxisomal matrix	TAS Traceable Author Statement more info
located_in presynaptic active zone	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: D-amino-acid oxidase

NP_001400563.1

EC 1.4.3.3

NP_001400564.1

EC 1.4.3.3

NP_001908.3

EC 1.4.3.3

XP_005268749.1

EC 1.4.3.3

XP_011536306.1

EC 1.4.3.3

XP_054227282.1

EC 1.4.3.3

XP_054227283.1

EC 1.4.3.3

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.