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

Gene ID: 267012, updated on 8-Jul-2018
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; Vega:OTTHUMG00000041333
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
See DAOA in Genome Data Viewer
Location:
13q33.2; 13q34
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (105465867..105491034)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (106118216..106143383)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs759 Neighboring gene uncharacterized LOC105370344 Neighboring gene DAOA antisense RNA 1 Neighboring gene uncharacterized LOC105370345 Neighboring gene long intergenic non-protein coding RNA 343

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of D-amino-acid oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of catalytic activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
D-amino acid oxidase activator
Names
schizophrenia- and bipolar disorder-associated protein G72

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
    5001..30168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001161812.1NP_001155284.1  D-amino acid oxidase activator 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/Swiss-Prot
    P59103
    UniProtKB/TrEMBL
    A2T115
    Related
    ENSP00000469539.1, OTTHUMP00000269465, ENST00000595812.2, OTTHUMT00000461745
    Conserved Domains (1) summary
    pfam15199
    Location:55125
    DAOA; D-amino acid oxidase activator
  2. NM_001161814.1NP_001155286.1  D-amino acid oxidase activator 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, OTTHUMP00000269458, ENST00000559369.5, OTTHUMT00000099036
    Conserved Domains (1) summary
    pfam15199
    Location:182
    DAOA; D-amino acid oxidase activator
  3. NM_172370.4NP_758958.3  D-amino acid oxidase activator 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)
    AY138546, AY138547, BC121091
    Consensus CDS
    CCDS41905.1
    UniProtKB/Swiss-Prot
    P59103
    Related
    ENSP00000365103.3, OTTHUMP00000038758, ENST00000375936.7, OTTHUMT00000099040
    Conserved Domains (1) summary
    pfam15199
    Location:72153
    DAOA; D-amino acid oxidase activator

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005254042.1XP_005254099.1  D-amino acid oxidase activator isoform X1

    See identical proteins and their annotated locations for XP_005254099.1

    UniProtKB/Swiss-Prot
    P59103
    UniProtKB/TrEMBL
    A0A024RDZ4
    Related
    ENSP00000470244.1, OTTHUMP00000269459, ENST00000473269.5, OTTHUMT00000099039
    Conserved Domains (1) summary
    pfam15199
    Location:7297
    DAOA; D-amino acid oxidase activator
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