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

Gene ID: 267012, updated on 14-Apr-2024

Summary

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Official Symbol
DAOAprovided by HGNC
Official Full Name
D-amino acid oxidase activatorprovided by HGNC
Primary source
HGNC:HGNC:21191
See related
Ensembl:ENSG00000182346 MIM:607408; AllianceGenome:HGNC:21191
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
LG72; SG72
Summary
This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011]
Orthologs
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Genomic context

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See DAOA in Genome Data Viewer
Location:
13q33.2; 13q34
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (105465867..105491034)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (104686091..104711261)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (106118216..106143383)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984609 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:105760089-105760627 Neighboring gene VISTA enhancer hs1991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7979 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:105926712-105926889 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:105930992-105931492 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:105931493-105931993 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:105934754-105935689 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:105998132-105999331 Neighboring gene VISTA enhancer hs759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:106034184-106034970 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:106034971-106035756 Neighboring gene uncharacterized LOC105370344 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31616 Neighboring gene DAOA antisense RNA 1 Neighboring gene uncharacterized LOC105370345 Neighboring gene long intergenic non-protein coding RNA 343 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:106469046-106469979 Neighboring gene uncharacterized LOC124903244

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. d-Amino Acids and pLG72 in Alzheimer's Disease and Schizophrenia. Cheng YJ, et al. Int J Mol Sci, 2021 Oct 9. PMID 34681579, Free PMC Article
  2. Effect of DAOA genetic variation on white matter alteration in corpus callosum in patients with first-episode schizophrenia. Su W, et al. Brain Imaging Behav, 2021 Aug. PMID 32748316
  3. pLG72 levels increase in early phase of Alzheimer's disease but decrease in late phase. Lin CH, et al. Sci Rep, 2019 Sep 13. PMID 31520071, Free PMC Article
  4. Elucidating the role of the pLG72 R30K substitution in schizophrenia susceptibility. Sacchi S, et al. FEBS Lett, 2017 Feb. PMID 28166363
  5. Structure models of G72, the product of a susceptibility gene to schizophrenia. Kato Y, et al. J Biochem, 2017 Feb 1. PMID 27815320

See all (137) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. d-Amino Acids and pLG72 in Alzheimer's Disease and Schizophrenia.
    Title: d-Amino Acids and pLG72 in Alzheimer's Disease and Schizophrenia.
  2. Effect of DAOA genetic variation on white matter alteration in corpus callosum in patients with first-episode schizophrenia.
    Title: Effect of DAOA genetic variation on white matter alteration in corpus callosum in patients with first-episode schizophrenia.
  3. pLG72 levels increase in early phase of Alzheimer's disease but decrease in late phase.
    Title: pLG72 levels increase in early phase of Alzheimer's disease but decrease in late phase.
  4. The observed loss of SOD1 function in pLG72-expressing cells may explain the elevated ROS levels and inhibition of U87 cell proliferation and has implications for understanding the onset of neurodegenerative diseases in humans.
    Title: pLG72 induces superoxide radicals via interaction and aggregation with SOD1.
  5. Findings showed that NOS1AP (rs348624, rs12742393 and rs1415263), DISC1 (rs821633 and rs1000731), DAOA (rs2391191) and GSK3B (rs6438552) SNPs had no association with development of early-onset schizophrenia; however, our finding suggested statistically significant role of the interaction of NOS1AP, DISC1, DAOA and GSK3B polymorphisms in schizophrenia susceptibility.
    Title: The interaction of NOS1AP, DISC1, DAOA, and GSK3B confers susceptibility of early-onset schizophrenia in Chinese Han population.
  6. In SNP-based single locus association analyses, the rs778292 in the DAOA gene showed significant association with schizophrenia. Additionally, a three-SNP haplotype (rs778292-rs3918342-rs1421292) in the DAOA gene were observed to be significantly associated with schizophrenia in a Taiwanese population.
    Title: The DAOA gene is associated with schizophrenia in the Taiwanese population.
  7. G72 transgenic mice have larger excitatory synapses with an increased amount of N-methyl-d-aspartate (NMDA) receptors in the molecular layer of dentate gyrus, compared with wild-type littermates. Transgenic animals have lower number of dentate granule cells with a parallel, but an even stronger decrease in the number of excitatory synapses in the molecular layer.
    Title: Synaptic and cellular changes induced by the schizophrenia susceptibility gene G72 are rescued by N-acetylcysteine treatment.
  8. pLG72 interacts with neosynthesized d-amino acid oxidase (hDAAO), promoting its inactivation and degradation. In this work, we used low-resolution techniques to characterize the surface topology of the hDAAO-pLG72 complex.
    Title: Regulating levels of the neuromodulator d-serine in human brain: structural insight into pLG72 and d-amino acid oxidase interaction.
  9. Data show that the R30K D-amino acid oxidase activator pLG72 is significantly more prone to degradation than the R30 and the K62E variants in a cell system.
    Title: Elucidating the role of the pLG72 R30K substitution in schizophrenia susceptibility.
  10. Studies successfully predicted the structures of the N- and C-terminal domains (ND and CD, respectively) of G72.
    Title: Structure models of G72, the product of a susceptibility gene to schizophrenia.
Submit: New GeneRIF Correction See all GeneRIFs (103)

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

Associated conditions

Description Tests
Schizophrenia
MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
EBI GWAS Catalog
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EBI GWAS Catalog
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EBI GWAS Catalog
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in D-amino acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
D-amino acid oxidase regulator
Names
schizophrenia- and bipolar disorder-associated protein G72

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_012694.1 RefSeqGene

    Range
    5179..30168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001161812.1 → NP_001155284.1  D-amino acid oxidase regulator isoform 2

    See identical proteins and their annotated locations for NP_001155284.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has additional segments in the 5' and 3' coding regions, as compared to variant 1, which results in a downstream AUG start codon. The resulting isoform (2) is shorter and has a different N-terminus, as compared to isoform 1.
    Source sequence(s)
    AY138547, DQ386870
    Consensus CDS
    CCDS59242.1
    UniProtKB/TrEMBL
    A2T115
    Related
    ENSP00000469539.1, ENST00000595812.2
    Conserved Domains (1) summary
    pfam15199
    Location:55 → 125
    DAOA; D-amino acid oxidase activator

  2. NM_001161814.1 → NP_001155286.1  D-amino acid oxidase regulator isoform 3

    See identical proteins and their annotated locations for NP_001155286.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' exon and an additional segment in the 5' coding region, as compared to variant 1, which results in a downstream AUG start codon. The resulting isoform (3) is shorter and has a different N-terminus, as compared to isoform 1.
    Source sequence(s)
    AY138547, AY170469
    Consensus CDS
    CCDS53880.1
    UniProtKB/Swiss-Prot
    P59103
    Related
    ENSP00000453831.1, ENST00000559369.5
    Conserved Domains (1) summary
    pfam15199
    Location:1 → 82
    DAOA; D-amino acid oxidase activator

  3. NM_001384644.1 → NP_001371573.1  D-amino acid oxidase regulator isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL359751, AY223901
    Consensus CDS
    CCDS91834.1
    Related
    ENSP00000470244.1, ENST00000473269.5
    Conserved Domains (1) summary
    pfam15199
    Location:72 → 98
    DAOA; D-amino acid oxidase activator

  4. NM_001384645.1 → NP_001371574.1  D-amino acid oxidase regulator isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL359751, AY170470
    Conserved Domains (1) summary
    pfam15199
    Location:26 → 84
    DAOA; D-amino acid oxidase activator

  5. NM_001384646.1 → NP_001371575.1  D-amino acid oxidase regulator isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL359751, DQ343761
    Consensus CDS
    CCDS53880.1
    Related
    ENSP00000472260.1, ENST00000600388.5
    Conserved Domains (1) summary
    pfam15199
    Location:1 → 82
    DAOA; D-amino acid oxidase activator

  6. NM_172370.5 → NP_758958.3  D-amino acid oxidase regulator isoform 1

    See identical proteins and their annotated locations for NP_758958.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL359751
    Consensus CDS
    CCDS41905.1
    UniProtKB/Swiss-Prot
    A6NKG7, P59103, Q0VAE6, Q5VX59, Q86Y17, Q8IWM4
    Related
    ENSP00000365103.3, ENST00000375936.9
    Conserved Domains (1) summary
    pfam15199
    Location:72 → 153
    DAOA; D-amino acid oxidase activator

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    105465867..105491034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    104686091..104711261
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P59103.2 GenPept UniProtKB/Swiss-Prot:P59103

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