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D-amino acid oxidase activator (Protein G72)

 DAOA_HUMAN              Reviewed;         153 AA.
P59103; A6NKG7; Q0VAE6; Q5VX59; Q86Y17; Q8IWM4;
25-NOV-2002, integrated into UniProtKB/Swiss-Prot.
20-DEC-2005, sequence version 2.
10-OCT-2018, entry version 117.
RecName: Full=D-amino acid oxidase activator;
AltName: Full=Protein G72;
Name=DAOA; Synonyms=G72;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE
SPLICING, VARIANT LYS-30, INTERACTION WITH DAAO, AND INVOLVEMENT IN
SCZD.
PubMed=12364586; DOI=10.1073/pnas.182412499;
Chumakov I., Blumenfeld M., Guerassimenko O., Cavarec L., Palicio M.,
Abderrahim H., Bougueleret L., Barry C., Tanaka H., La Rosa P.,
Puech A., Tahri N., Cohen-Akenine A., Delabrosse S., Lissarrague S.,
Picard F.-P., Maurice K., Essioux L., Millasseau P., Grel P.,
Debailleul V., Simon A.-M., Caterina D., Dufaure I., Malekzadeh K.,
Belova M., Luan J.-J., Bouillot M., Sambucy J.-L., Primas G.,
Saumier M., Boubkiri N., Martin-Saumier S., Nasroune M., Peixoto H.,
Delaye A., Pinchot V., Bastucci M., Guillou S., Chevillon M.,
Sainz-Fuertes R., Meguenni S., Aurich-Costa J., Cherif D., Gimalac A.,
Van Duijn C., Gauvreau D., Ouellette G., Fortier I., Raelson J.,
Sherbatich T., Riazanskay N., Rogaev E., Raeymaekers P., Aerssens J.,
Konings F., Luyten W., Macciardi F., Sham P.C., Straub R.E.,
Weinberger D.R., Cohen N., Cohen D.;
"Genetic and physiological data implicating the new human gene G72 and
the gene for D-amino acid oxidase in schizophrenia.";
Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4).
TISSUE=Brain, and Testis;
PubMed=12647258; DOI=10.1086/374822;
Hattori E., Liu C., Badner J.A., Bonner T.I., Christian S.L.,
Maheshwari M., Detera-Wadleigh S.D., Gibbs R.A., Gershon E.S.;
"Polymorphisms at the G72/G30 gene locus, on 13q33, are associated
with bipolar disorder in two independent pedigree series.";
Am. J. Hum. Genet. 72:1131-1140(2003).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
TISSUE=Amygdala;
Cheng L., Gershon E.S., Liu C.;
"Expression profile of G72 gene in human brain and G72 transgenic mice
brain.";
Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15057823; DOI=10.1038/nature02379;
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E.,
Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E.,
Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.,
Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R.,
Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S.,
Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M.,
Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J.,
Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E.,
Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L.,
Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J.,
Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S.,
Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J.,
Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M.,
King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A.,
Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S.,
Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I.,
Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S.,
Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A.,
Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B.,
Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L.,
Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M.,
Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.;
"The DNA sequence and analysis of human chromosome 13.";
Nature 428:522-528(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
PubMed=14759258; DOI=10.1186/gb-2004-5-2-r8;
Hillman R.T., Green R.E., Brenner S.E.;
"An unappreciated role for RNA surveillance.";
Genome Biol. 5:R8.1-R8.16(2004).
-!- FUNCTION: Seems to activate D-amino acid oxidase.
-!- SUBUNIT: Associates with D-amino acid oxidase (DAAO).
{ECO:0000269|PubMed:12364586}.
-!- SUBCELLULAR LOCATION: Golgi apparatus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1; Synonyms=LG72;
IsoId=P59103-1; Sequence=Displayed;
Note=May be produced at very low levels due to a premature stop
codon in the mRNA, leading to nonsense-mediated mRNA decay.;
Name=2; Synonyms=SG72;
IsoId=P59103-2; Sequence=VSP_004053, VSP_004054;
Note=May be produced at very low levels due to a premature stop
codon in the mRNA, leading to nonsense-mediated mRNA decay. No
experimental confirmation available.;
Name=3;
IsoId=P59103-3; Sequence=VSP_044292;
Name=4;
IsoId=P59103-4; Sequence=VSP_044293;
-!- TISSUE SPECIFICITY: Expressed in amygdala, caudate nucleus, spinal
cord and testis.
-!- DISEASE: Schizophrenia (SCZD) [MIM:181500]: A complex,
multifactorial psychotic disorder or group of disorders
characterized by disturbances in the form and content of thought
(e.g. delusions, hallucinations), in mood (e.g. inappropriate
affect), in sense of self and relationship to the external world
(e.g. loss of ego boundaries, withdrawal), and in behavior (e.g
bizarre or apparently purposeless behavior). Although it affects
emotions, it is distinguished from mood disorders in which such
disturbances are primary. Similarly, there may be mild impairment
of cognitive function, and it is distinguished from the dementias
in which disturbed cognitive function is considered primary. Some
patients manifest schizophrenic as well as bipolar disorder
symptoms and are often given the diagnosis of schizoaffective
disorder. {ECO:0000269|PubMed:12364586}. Note=Disease
susceptibility may be associated with variations affecting the
gene represented in this entry.
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EMBL; AE014294; AAN16027.1; -; Genomic_DNA.
EMBL; AE014294; AAN16028.1; -; Genomic_DNA.
EMBL; AY138546; AAN08432.1; -; mRNA.
EMBL; AY138547; AAN08433.1; -; mRNA.
EMBL; AY170469; AAO12727.1; -; mRNA.
EMBL; AY223901; AAO73604.1; -; mRNA.
EMBL; DQ343761; ABC59904.1; -; mRNA.
EMBL; DQ357223; ABC86111.1; -; mRNA.
EMBL; AL359751; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471085; EAX09080.1; -; Genomic_DNA.
EMBL; BC121091; AAI21092.1; -; mRNA.
CCDS; CCDS41905.1; -. [P59103-1]
CCDS; CCDS53880.1; -. [P59103-3]
RefSeq; NP_001155284.1; NM_001161812.1.
RefSeq; NP_001155286.1; NM_001161814.1. [P59103-3]
RefSeq; NP_758958.3; NM_172370.4. [P59103-1]
RefSeq; XP_005254099.1; XM_005254042.1. [P59103-4]
UniGene; Hs.381382; -.
ProteinModelPortal; P59103; -.
SMR; P59103; -.
IntAct; P59103; 1.
MINT; P59103; -.
STRING; 9606.ENSP00000365103; -.
BioMuta; DAOA; -.
DMDM; 84028201; -.
PaxDb; P59103; -.
PRIDE; P59103; -.
ProteomicsDB; 57133; -.
ProteomicsDB; 57134; -. [P59103-2]
Ensembl; ENST00000329625; ENSP00000329951; ENSG00000182346. [P59103-3]
Ensembl; ENST00000375936; ENSP00000365103; ENSG00000182346. [P59103-1]
Ensembl; ENST00000473269; ENSP00000470244; ENSG00000182346. [P59103-4]
Ensembl; ENST00000559369; ENSP00000453831; ENSG00000182346. [P59103-3]
Ensembl; ENST00000600388; ENSP00000472260; ENSG00000182346. [P59103-3]
Ensembl; ENST00000618629; ENSP00000483757; ENSG00000182346. [P59103-1]
GeneID; 267012; -.
KEGG; hsa:267012; -.
UCSC; uc001vqb.5; human. [P59103-1]
CTD; 267012; -.
DisGeNET; 267012; -.
EuPathDB; HostDB:ENSG00000182346.17; -.
GeneCards; DAOA; -.
HGNC; HGNC:21191; DAOA.
HPA; HPA053114; -.
MalaCards; DAOA; -.
MIM; 181500; phenotype.
MIM; 607408; gene.
neXtProt; NX_P59103; -.
OpenTargets; ENSG00000182346; -.
PharmGKB; PA134924986; -.
eggNOG; ENOG410KIB9; Eukaryota.
eggNOG; ENOG4110QEM; LUCA.
GeneTree; ENSGT00410000028557; -.
HOGENOM; HOG000112142; -.
HOVERGEN; HBG067627; -.
InParanoid; P59103; -.
OMA; CPRVSYL; -.
OrthoDB; EOG091G0PUQ; -.
PhylomeDB; P59103; -.
TreeFam; TF354179; -.
GenomeRNAi; 267012; -.
PRO; PR:P59103; -.
Proteomes; UP000005640; Chromosome 13.
Bgee; ENSG00000182346; Expressed in 5 organ(s), highest expression level in blood.
CleanEx; HS_DAOA; -.
ExpressionAtlas; P59103; baseline and differential.
Genevisible; P59103; HS.
GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
GO; GO:0048471; C:perinuclear region of cytoplasm; IDA:UniProtKB.
GO; GO:0008047; F:enzyme activator activity; IDA:UniProtKB.
GO; GO:0019899; F:enzyme binding; IPI:UniProtKB.
GO; GO:1900758; P:negative regulation of D-amino-acid oxidase activity; IDA:UniProtKB.
GO; GO:0043085; P:positive regulation of catalytic activity; IDA:UniProtKB.
InterPro; IPR027929; DAOA.
Pfam; PF15199; DAOA; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Golgi apparatus;
Polymorphism; Reference proteome; Schizophrenia.
CHAIN 1 153 D-amino acid oxidase activator.
/FTId=PRO_0000079781.
VAR_SEQ 1 71 Missing (in isoform 3).
{ECO:0000303|PubMed:12647258,
ECO:0000303|Ref.3}.
/FTId=VSP_044292.
VAR_SEQ 16 16 S -> V (in isoform 2). {ECO:0000305}.
/FTId=VSP_004053.
VAR_SEQ 17 153 Missing (in isoform 2). {ECO:0000305}.
/FTId=VSP_004054.
VAR_SEQ 95 153 LEEVSSHVGKVFMARNYEFLAYEASKDRRQPLERMWTCNYN
QQKDQSCNHKEITSTKAE -> HSKVILNGNLHCHFKRISQ
IFAGHFMEGDTEA (in isoform 4).
{ECO:0000303|PubMed:12647258}.
/FTId=VSP_044293.
VARIANT 30 30 R -> K (in dbSNP:rs2391191).
{ECO:0000269|PubMed:12364586}.
/FTId=VAR_014313.
VARIANT 62 62 K -> E (in dbSNP:rs9558562).
/FTId=VAR_050943.
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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