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Database: UniProt
Entry: DAOA_HUMAN
LinkDB: DAOA_HUMAN
Original site: 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}.
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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
//
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