DAOA_HUMAN
ID DAOA_HUMAN Reviewed; 153 AA.
AC P59103; A6NKG7; Q0VAE6; Q5VX59; Q86Y17; Q8IWM4;
DT 25-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT 20-DEC-2005, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=D-amino acid oxidase activator;
DE AltName: Full=Protein G72;
GN Name=DAOA; Synonyms=G72;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING,
RP VARIANT LYS-30, INTERACTION WITH DAAO, AND INVOLVEMENT IN SCZD.
RX PubMed=12364586; DOI=10.1073/pnas.182412499;
RA Chumakov I., Blumenfeld M., Guerassimenko O., Cavarec L., Palicio M.,
RA Abderrahim H., Bougueleret L., Barry C., Tanaka H., La Rosa P., Puech A.,
RA Tahri N., Cohen-Akenine A., Delabrosse S., Lissarrague S., Picard F.-P.,
RA Maurice K., Essioux L., Millasseau P., Grel P., Debailleul V., Simon A.-M.,
RA Caterina D., Dufaure I., Malekzadeh K., Belova M., Luan J.-J., Bouillot M.,
RA Sambucy J.-L., Primas G., Saumier M., Boubkiri N., Martin-Saumier S.,
RA Nasroune M., Peixoto H., Delaye A., Pinchot V., Bastucci M., Guillou S.,
RA Chevillon M., Sainz-Fuertes R., Meguenni S., Aurich-Costa J., Cherif D.,
RA Gimalac A., Van Duijn C., Gauvreau D., Ouellette G., Fortier I.,
RA Raelson J., Sherbatich T., Riazanskay N., Rogaev E., Raeymaekers P.,
RA Aerssens J., Konings F., Luyten W., Macciardi F., Sham P.C., Straub R.E.,
RA Weinberger D.R., Cohen N., Cohen D.;
RT "Genetic and physiological data implicating the new human gene G72 and the
RT gene for D-amino acid oxidase in schizophrenia.";
RL Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4).
RC TISSUE=Brain, and Testis;
RX PubMed=12647258; DOI=10.1086/374822;
RA Hattori E., Liu C., Badner J.A., Bonner T.I., Christian S.L.,
RA Maheshwari M., Detera-Wadleigh S.D., Gibbs R.A., Gershon E.S.;
RT "Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with
RT bipolar disorder in two independent pedigree series.";
RL Am. J. Hum. Genet. 72:1131-1140(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RC TISSUE=Amygdala;
RA Cheng L., Gershon E.S., Liu C.;
RT "Expression profile of G72 gene in human brain and G72 transgenic mice
RT brain.";
RL Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
RX PubMed=14759258; DOI=10.1186/gb-2004-5-2-r8;
RA Hillman R.T., Green R.E., Brenner S.E.;
RT "An unappreciated role for RNA surveillance.";
RL Genome Biol. 5:R8.1-R8.16(2004).
CC -!- FUNCTION: Seems to activate D-amino acid oxidase.
CC -!- SUBUNIT: Associates with D-amino acid oxidase (DAAO).
CC {ECO:0000269|PubMed:12364586}.
CC -!- SUBCELLULAR LOCATION: Golgi apparatus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=LG72;
CC IsoId=P59103-1; Sequence=Displayed;
CC Name=2; Synonyms=SG72;
CC IsoId=P59103-2; Sequence=VSP_004053, VSP_004054;
CC Name=3;
CC IsoId=P59103-3; Sequence=VSP_044292;
CC Name=4;
CC IsoId=P59103-4; Sequence=VSP_044293;
CC -!- TISSUE SPECIFICITY: Expressed in amygdala, caudate nucleus, spinal cord
CC and testis.
CC -!- DISEASE: Schizophrenia (SCZD) [MIM:181500]: A complex, multifactorial
CC psychotic disorder or group of disorders characterized by disturbances
CC in the form and content of thought (e.g. delusions, hallucinations), in
CC mood (e.g. inappropriate affect), in sense of self and relationship to
CC the external world (e.g. loss of ego boundaries, withdrawal), and in
CC behavior (e.g bizarre or apparently purposeless behavior). Although it
CC affects emotions, it is distinguished from mood disorders in which such
CC disturbances are primary. Similarly, there may be mild impairment of
CC cognitive function, and it is distinguished from the dementias in which
CC disturbed cognitive function is considered primary. Some patients
CC manifest schizophrenic as well as bipolar disorder symptoms and are
CC often given the diagnosis of schizoaffective disorder.
CC {ECO:0000269|PubMed:12364586}. Note=Disease susceptibility may be
CC associated with variants affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 1]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AE014294; AAN16027.1; -; Genomic_DNA.
DR EMBL; AE014294; AAN16028.1; -; Genomic_DNA.
DR EMBL; AY138546; AAN08432.1; -; mRNA.
DR EMBL; AY138547; AAN08433.1; -; mRNA.
DR EMBL; AY170469; AAO12727.1; -; mRNA.
DR EMBL; AY223901; AAO73604.1; -; mRNA.
DR EMBL; DQ343761; ABC59904.1; -; mRNA.
DR EMBL; DQ357223; ABC86111.1; -; mRNA.
DR EMBL; AL359751; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471085; EAX09080.1; -; Genomic_DNA.
DR EMBL; BC121091; AAI21092.1; -; mRNA.
DR CCDS; CCDS41905.1; -. [P59103-1]
DR CCDS; CCDS53880.1; -. [P59103-3]
DR RefSeq; NP_001155284.1; NM_001161812.1.
DR RefSeq; NP_001155286.1; NM_001161814.1. [P59103-3]
DR RefSeq; NP_758958.3; NM_172370.4. [P59103-1]
DR RefSeq; XP_005254099.1; XM_005254042.1.
DR AlphaFoldDB; P59103; -.
DR BioGRID; 129363; 5.
DR IntAct; P59103; 1.
DR MINT; P59103; -.
DR STRING; 9606.ENSP00000483757; -.
DR BioMuta; DAOA; -.
DR DMDM; 84028201; -.
DR PaxDb; P59103; -.
DR PRIDE; P59103; -.
DR Antibodypedia; 54191; 85 antibodies from 16 providers.
DR DNASU; 267012; -.
DR Ensembl; ENST00000329625.9; ENSP00000329951.5; ENSG00000182346.22. [P59103-3]
DR Ensembl; ENST00000375936.9; ENSP00000365103.3; ENSG00000182346.22. [P59103-1]
DR Ensembl; ENST00000473269.5; ENSP00000470244.1; ENSG00000182346.22. [P59103-4]
DR Ensembl; ENST00000559369.5; ENSP00000453831.1; ENSG00000182346.22. [P59103-3]
DR Ensembl; ENST00000600388.5; ENSP00000472260.1; ENSG00000182346.22. [P59103-3]
DR Ensembl; ENST00000618629.1; ENSP00000483757.1; ENSG00000182346.22. [P59103-1]
DR GeneID; 267012; -.
DR KEGG; hsa:267012; -.
DR MANE-Select; ENST00000375936.9; ENSP00000365103.3; NM_172370.5; NP_758958.3.
DR UCSC; uc001vqb.5; human. [P59103-1]
DR CTD; 267012; -.
DR DisGeNET; 267012; -.
DR GeneCards; DAOA; -.
DR HGNC; HGNC:21191; DAOA.
DR HPA; ENSG00000182346; Not detected.
DR MalaCards; DAOA; -.
DR MIM; 181500; phenotype.
DR MIM; 607408; gene.
DR neXtProt; NX_P59103; -.
DR OpenTargets; ENSG00000182346; -.
DR PharmGKB; PA134924986; -.
DR VEuPathDB; HostDB:ENSG00000182346; -.
DR eggNOG; ENOG502T4XP; Eukaryota.
DR GeneTree; ENSGT00410000028557; -.
DR HOGENOM; CLU_2557651_0_0_1; -.
DR InParanoid; P59103; -.
DR OMA; TSTKAEW; -.
DR OrthoDB; 1378516at2759; -.
DR PhylomeDB; P59103; -.
DR TreeFam; TF354179; -.
DR PathwayCommons; P59103; -.
DR SignaLink; P59103; -.
DR BioGRID-ORCS; 267012; 11 hits in 1065 CRISPR screens.
DR GenomeRNAi; 267012; -.
DR Pharos; P59103; Tbio.
DR PRO; PR:P59103; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; P59103; protein.
DR Bgee; ENSG00000182346; Expressed in ganglionic eminence.
DR ExpressionAtlas; P59103; baseline and differential.
DR Genevisible; P59103; HS.
DR GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:UniProtKB.
DR GO; GO:0008047; F:enzyme activator activity; IDA:UniProtKB.
DR GO; GO:0019899; F:enzyme binding; IPI:UniProtKB.
DR GO; GO:1900758; P:negative regulation of D-amino-acid oxidase activity; IDA:UniProtKB.
DR GO; GO:0043085; P:positive regulation of catalytic activity; IDA:UniProtKB.
DR InterPro; IPR027929; DAOA.
DR Pfam; PF15199; DAOA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Golgi apparatus; Reference proteome; Schizophrenia.
FT CHAIN 1..153
FT /note="D-amino acid oxidase activator"
FT /id="PRO_0000079781"
FT VAR_SEQ 1..71
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12647258, ECO:0000303|Ref.3"
FT /id="VSP_044292"
FT VAR_SEQ 16
FT /note="S -> V (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_004053"
FT VAR_SEQ 17..153
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_004054"
FT VAR_SEQ 95..153
FT /note="LEEVSSHVGKVFMARNYEFLAYEASKDRRQPLERMWTCNYNQQKDQSCNHKE
FT ITSTKAE -> HSKVILNGNLHCHFKRISQIFAGHFMEGDTEA (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:12647258"
FT /id="VSP_044293"
FT VARIANT 30
FT /note="R -> K (in dbSNP:rs2391191)"
FT /evidence="ECO:0000269|PubMed:12364586"
FT /id="VAR_014313"
FT VARIANT 62
FT /note="K -> E (in dbSNP:rs9558562)"
FT /id="VAR_050943"
SQ SEQUENCE 153 AA; 18108 MW; 597E2DE432A48EAE CRC64;
MLEKLMGADS LQLFRSRYTL GKIYFIGFQR SILLSKSENS LNSIAKETEE GRETVTRKEG
WKRRHEDGYL EMAQRHLQRS LCPWVSYLPQ PYAELEEVSS HVGKVFMARN YEFLAYEASK
DRRQPLERMW TCNYNQQKDQ SCNHKEITST KAE
