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P59103

- DAOA_HUMAN

UniProt

P59103 - DAOA_HUMAN

Protein

D-amino acid oxidase activator

Gene

DAOA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Seems to activate D-amino acid oxidase.

    GO - Molecular functioni

    1. enzyme activator activity Source: UniProtKB
    2. enzyme binding Source: UniProtKB

    GO - Biological processi

    1. negative regulation of D-amino-acid oxidase activity Source: UniProtKB
    2. positive regulation of catalytic activity Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    D-amino acid oxidase activator
    Alternative name(s):
    Protein G72
    Gene namesi
    Name:DAOA
    Synonyms:G72
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:21191. DAOA.

    Subcellular locationi

    GO - Cellular componenti

    1. Golgi apparatus Source: UniProtKB
    2. mitochondrion Source: UniProtKB
    3. perinuclear region of cytoplasm Source: UniProtKB

    Keywords - Cellular componenti

    Golgi apparatus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134924986.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 153153D-amino acid oxidase activatorPRO_0000079781Add
    BLAST

    Proteomic databases

    PaxDbiP59103.
    PRIDEiP59103.

    Expressioni

    Tissue specificityi

    Expressed in amygdala, caudate nucleus, spinal cord and testis.

    Gene expression databases

    ArrayExpressiP59103.
    CleanExiHS_DAOA.
    GenevestigatoriP59103.

    Organism-specific databases

    HPAiHPA053114.

    Interactioni

    Subunit structurei

    Associates with D-amino acid oxidase (DAAO).

    Protein-protein interaction databases

    IntActiP59103. 1 interaction.
    MINTiMINT-8204618.
    STRINGi9606.ENSP00000365103.

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG138778.
    HOGENOMiHOG000112142.
    InParanoidiP59103.
    OMAiLENSCRE.
    OrthoDBiEOG7ZSHVM.
    PhylomeDBiP59103.
    TreeFamiTF354179.

    Family and domain databases

    InterProiIPR027929. DAOA.
    [Graphical view]
    PfamiPF15199. DAOA. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P59103-1) [UniParc]FASTAAdd to Basket

    Also known as: LG72

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLEKLMGADS LQLFRSRYTL GKIYFIGFQR SILLSKSENS LNSIAKETEE    50
    GRETVTRKEG WKRRHEDGYL EMAQRHLQRS LCPWVSYLPQ PYAELEEVSS 100
    HVGKVFMARN YEFLAYEASK DRRQPLERMW TCNYNQQKDQ SCNHKEITST 150
    KAE 153

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Length:153
    Mass (Da):18,108
    Last modified:December 20, 2005 - v2
    Checksum:i597E2DE432A48EAE
    GO
    Isoform 2 (identifier: P59103-2) [UniParc]FASTAAdd to Basket

    Also known as: SG72

    The sequence of this isoform differs from the canonical sequence as follows:
         16-16: S → V
         17-153: Missing.

    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.

    Show »
    Length:16
    Mass (Da):1,851
    Checksum:iB7B6CDA012257A99
    GO
    Isoform 3 (identifier: P59103-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-71: Missing.

    Show »
    Length:82
    Mass (Da):9,783
    Checksum:iEB1DEE2851A277D7
    GO
    Isoform 4 (identifier: P59103-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         95-153: LEEVSSHVGK...HKEITSTKAE → HSKVILNGNLHCHFKRISQIFAGHFMEGDTEA

    Show »
    Length:126
    Mass (Da):14,719
    Checksum:i56FCB698164657FF
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti30 – 301R → K.1 Publication
    Corresponds to variant rs2391191 [ dbSNP | Ensembl ].
    VAR_014313
    Natural varianti62 – 621K → E.
    Corresponds to variant rs9558562 [ dbSNP | Ensembl ].
    VAR_050943

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7171Missing in isoform 3. 2 PublicationsVSP_044292Add
    BLAST
    Alternative sequencei16 – 161S → V in isoform 2. CuratedVSP_004053
    Alternative sequencei17 – 153137Missing in isoform 2. CuratedVSP_004054Add
    BLAST
    Alternative sequencei95 – 15359LEEVS…STKAE → HSKVILNGNLHCHFKRISQI FAGHFMEGDTEA in isoform 4. 1 PublicationVSP_044293Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AE014294 Genomic DNA. Translation: AAN16027.1.
    AE014294 Genomic DNA. Translation: AAN16028.1.
    AY138546 mRNA. Translation: AAN08432.1.
    AY138547 mRNA. Translation: AAN08433.1.
    AY170469 mRNA. Translation: AAO12727.1.
    AY223901 mRNA. Translation: AAO73604.1.
    DQ343761 mRNA. Translation: ABC59904.1.
    DQ357223 mRNA. Translation: ABC86111.1.
    AL359751 Genomic DNA. Translation: CAH70815.1.
    CH471085 Genomic DNA. Translation: EAX09080.1.
    BC121091 mRNA. Translation: AAI21092.1.
    CCDSiCCDS41905.1. [P59103-1]
    CCDS53880.1. [P59103-3]
    RefSeqiNP_001155284.1. NM_001161812.1.
    NP_001155286.1. NM_001161814.1. [P59103-3]
    NP_758958.3. NM_172370.4. [P59103-1]
    XP_005254099.1. XM_005254042.1. [P59103-4]
    UniGeneiHs.381382.

    Genome annotation databases

    EnsembliENST00000329625; ENSP00000329951; ENSG00000182346. [P59103-3]
    ENST00000375936; ENSP00000365103; ENSG00000182346. [P59103-1]
    ENST00000473269; ENSP00000470244; ENSG00000182346. [P59103-4]
    ENST00000559369; ENSP00000453831; ENSG00000182346. [P59103-3]
    ENST00000600388; ENSP00000472260; ENSG00000182346. [P59103-3]
    GeneIDi267012.
    KEGGihsa:267012.
    UCSCiuc001vqb.3. human. [P59103-1]

    Polymorphism databases

    DMDMi84028201.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AE014294 Genomic DNA. Translation: AAN16027.1 .
    AE014294 Genomic DNA. Translation: AAN16028.1 .
    AY138546 mRNA. Translation: AAN08432.1 .
    AY138547 mRNA. Translation: AAN08433.1 .
    AY170469 mRNA. Translation: AAO12727.1 .
    AY223901 mRNA. Translation: AAO73604.1 .
    DQ343761 mRNA. Translation: ABC59904.1 .
    DQ357223 mRNA. Translation: ABC86111.1 .
    AL359751 Genomic DNA. Translation: CAH70815.1 .
    CH471085 Genomic DNA. Translation: EAX09080.1 .
    BC121091 mRNA. Translation: AAI21092.1 .
    CCDSi CCDS41905.1. [P59103-1 ]
    CCDS53880.1. [P59103-3 ]
    RefSeqi NP_001155284.1. NM_001161812.1.
    NP_001155286.1. NM_001161814.1. [P59103-3 ]
    NP_758958.3. NM_172370.4. [P59103-1 ]
    XP_005254099.1. XM_005254042.1. [P59103-4 ]
    UniGenei Hs.381382.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi P59103. 1 interaction.
    MINTi MINT-8204618.
    STRINGi 9606.ENSP00000365103.

    Polymorphism databases

    DMDMi 84028201.

    Proteomic databases

    PaxDbi P59103.
    PRIDEi P59103.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329625 ; ENSP00000329951 ; ENSG00000182346 . [P59103-3 ]
    ENST00000375936 ; ENSP00000365103 ; ENSG00000182346 . [P59103-1 ]
    ENST00000473269 ; ENSP00000470244 ; ENSG00000182346 . [P59103-4 ]
    ENST00000559369 ; ENSP00000453831 ; ENSG00000182346 . [P59103-3 ]
    ENST00000600388 ; ENSP00000472260 ; ENSG00000182346 . [P59103-3 ]
    GeneIDi 267012.
    KEGGi hsa:267012.
    UCSCi uc001vqb.3. human. [P59103-1 ]

    Organism-specific databases

    CTDi 267012.
    GeneCardsi GC13P106118.
    HGNCi HGNC:21191. DAOA.
    HPAi HPA053114.
    MIMi 607408. gene.
    neXtProti NX_P59103.
    PharmGKBi PA134924986.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG138778.
    HOGENOMi HOG000112142.
    InParanoidi P59103.
    OMAi LENSCRE.
    OrthoDBi EOG7ZSHVM.
    PhylomeDBi P59103.
    TreeFami TF354179.

    Miscellaneous databases

    GenomeRNAii 267012.
    NextBioi 93398.
    PROi P59103.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P59103.
    CleanExi HS_DAOA.
    Genevestigatori P59103.

    Family and domain databases

    InterProi IPR027929. DAOA.
    [Graphical view ]
    Pfami PF15199. DAOA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia."
      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.
      Proc. Natl. Acad. Sci. U.S.A. 99:13675-13680(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANT LYS-30, INTERACTION WITH DAAO.
    2. "Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series."
      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.
      Am. J. Hum. Genet. 72:1131-1140(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4).
      Tissue: Brain and Testis.
    3. "Expression profile of G72 gene in human brain and G72 transgenic mice brain."
      Cheng L., Gershon E.S., Liu C.
      Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Amygdala.
    4. "The DNA sequence and analysis of human chromosome 13."
      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.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    7. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).

    Entry informationi

    Entry nameiDAOA_HUMAN
    AccessioniPrimary (citable) accession number: P59103
    Secondary accession number(s): A6NKG7
    , Q0VAE6, Q5VX59, Q86Y17, Q8IWM4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 25, 2002
    Last sequence update: December 20, 2005
    Last modified: October 1, 2014
    This is version 91 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 13
      Human chromosome 13: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3