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UniProtKB - O75106 (AOC2_HUMAN)

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Protein

Retina-specific copper amine oxidase

Gene

AOC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Has a monoamine oxidase activity with substrate specificity for 2-phenylethylamine and tryptamine. May play a role in adipogenesis. May be a critical modulator of signal transmission in retina.2 Publications

Catalytic activityi

RCH2NH2 + H2O + O2 = RCHO + NH3 + H2O2.By similarity

Cofactori

Protein has several cofactor binding sites:
  • Cu cationBy similarityNote: Binds 1 copper ion per subunit.By similarity
  • Ca2+By similarityNote: Binds 2 calcium ions per subunit.By similarity
  • L-topaquinoneBy similarityNote: Contains 1 topaquinone per subunit.By similarity

Kineticsi

  1. KM=0.056 mM for tryptamine1 Publication
  2. KM=0.077 mM for 2-phenylethylamine1 Publication
  3. KM=0.167 mM for benzylamine1 Publication
  4. KM=0.178 mM for p-tyramine1 Publication
  5. KM=1.7 mM for methylamine1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Active sitei380Proton acceptorBy similarity1
    Active sitei465Schiff-base intermediate with substrate; via topaquinoneBy similarity1
    Metal bindingi516Copper; via tele nitrogenBy similarity1
    Metal bindingi518Copper; via tele nitrogenBy similarity1
    Metal bindingi525Calcium 1By similarity1
    Metal bindingi526Calcium 1; via carbonyl oxygenBy similarity1
    Metal bindingi527Calcium 1By similarity1
    Metal bindingi568Calcium 2By similarity1
    Metal bindingi659Calcium 2; via carbonyl oxygenBy similarity1
    Metal bindingi661Calcium 2By similarity1
    Metal bindingi663Calcium 2By similarity1
    Metal bindingi669Calcium 1By similarity1
    Metal bindingi670Calcium 1; via carbonyl oxygenBy similarity1
    Metal bindingi680Copper; via pros nitrogenBy similarity1

    GO - Molecular functioni

    View the complete GO annotation on QuickGO ...

    GO - Biological processi

    • amine metabolic process Source: InterPro
    • catecholamine metabolic process Source: UniProtKB-KW
    • visual perception Source: ProtInc
    • xenobiotic metabolic process Source: Reactome
    View the complete GO annotation on QuickGO ...

    Keywordsi

    Molecular functionOxidoreductase
    Biological processCatecholamine metabolism
    LigandCalcium, Copper, Metal-binding

    Enzyme and pathway databases

    BRENDAi1.4.3.21 2681
    ReactomeiR-HSA-211945 Phase I - Functionalization of compounds
    SABIO-RKiO75106

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Retina-specific copper amine oxidase (EC:1.4.3.21By similarity)
    Short name:
    RAO
    Alternative name(s):
    Amine oxidase [copper-containing]
    Semicarbazide-sensitive amine oxidase
    Short name:
    SSAO
    Gene namesi
    Name:AOC2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    Proteomesi
    • UP000005640 Componenti: Chromosome 17

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000131480.8
    HGNCiHGNC:549 AOC2
    MIMi602268 gene
    neXtProtiNX_O75106

    Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Membrane

    Pathology & Biotechi

    Organism-specific databases

    DisGeNETi314
    OpenTargetsiENSG00000131480
    PharmGKBiPA24839

    Chemistry databases

    ChEMBLiCHEMBL4112

    Polymorphism and mutation databases

    BioMutaiAOC2

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Signal peptidei1 – 32Sequence analysisAdd BLAST32
    ChainiPRO_000003567133 – 756Retina-specific copper amine oxidaseAdd BLAST724

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Glycosylationi133N-linked (GlcNAc...) asparagineBy similarity1
    Glycosylationi198N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi226N-linked (GlcNAc...) asparagineBy similarity1
    Disulfide bondi398 ↔ 424By similarity
    Modified residuei4652',4',5'-topaquinoneBy similarity1
    Glycosylationi588N-linked (GlcNAc...) (complex) asparagineBy similarity1
    Glycosylationi662N-linked (GlcNAc...) asparagineBy similarity1
    Disulfide bondi730 ↔ 737By similarity
    Disulfide bondi744InterchainBy similarity

    Post-translational modificationi

    Topaquinone (TPQ) is generated by copper-dependent autoxidation of a specific tyrosyl residue.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, TPQ

    Proteomic databases

    PaxDbiO75106
    PeptideAtlasiO75106
    PRIDEiO75106
    ProteomicsDBi49761
    49762 [O75106-2]

    PTM databases

    iPTMnetiO75106
    PhosphoSitePlusiO75106

    Expressioni

    Tissue specificityi

    Expressed in many tissues with much higher expression in retina. Isoform 1 and isoform 2 are expressed in adipose tissue, whereas isoform 1 only seems to be present in thymus, and isoform 2 only in testis.3 Publications

    Inductioni

    Up-regulated during in vitro adipocyte differentiation.1 Publication

    Gene expression databases

    BgeeiENSG00000131480
    CleanExiHS_AOC2
    GenevisibleiO75106 HS

    Organism-specific databases

    HPAiHPA057779

    Interactioni

    Subunit structurei

    Homodimer; disulfide-linked (By similarity). Forms a heterodimer with AOC3, in vitro.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi106811, 6 interactors
    IntActiO75106, 2 interactors
    STRINGi9606.ENSP00000253799

    Chemistry databases

    BindingDBiO75106

    Structurei

    3D structure databases

    ProteinModelPortaliO75106
    SMRiO75106
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni378 – 388Substrate bindingBy similarityAdd BLAST11
    Regioni462 – 467Substrate bindingBy similarity6
    Regioni574 – 581Heparin-bindingBy similarity8

    Sequence similaritiesi

    Belongs to the copper/topaquinone oxidase family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiKOG1186 Eukaryota
    COG3733 LUCA
    GeneTreeiENSGT00510000046461
    HOGENOMiHOG000233919
    HOVERGENiHBG004164
    InParanoidiO75106
    KOiK00276
    OMAiNANWARY
    OrthoDBiEOG091G02WY
    PhylomeDBiO75106
    TreeFamiTF314750

    Family and domain databases

    Gene3Di2.70.98.20, 1 hit
    InterProiView protein in InterPro
    IPR032952 AOC2
    IPR000269 Cu_amine_oxidase
    IPR015798 Cu_amine_oxidase_C
    IPR036460 Cu_amine_oxidase_C_sf
    IPR016182 Cu_amine_oxidase_N-reg
    IPR015800 Cu_amine_oxidase_N2
    IPR015802 Cu_amine_oxidase_N3
    PANTHERiPTHR10638 PTHR10638, 1 hit
    PTHR10638:SF4 PTHR10638:SF4, 1 hit
    PfamiView protein in Pfam
    PF01179 Cu_amine_oxid, 1 hit
    PF02727 Cu_amine_oxidN2, 1 hit
    PF02728 Cu_amine_oxidN3, 1 hit
    PRINTSiPR00766 CUDAOXIDASE
    SUPFAMiSSF49998 SSF49998, 1 hit
    SSF54416 SSF54416, 2 hits
    PROSITEiView protein in PROSITE
    PS01164 COPPER_AMINE_OXID_1, 1 hit
    PS01165 COPPER_AMINE_OXID_2, 1 hit

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    Note: Additional isoforms seem to exist.
    Isoform 1 (identifier: O75106-1) [UniParc]FASTAAdd to basket
    Also known as: Long

    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

            10         20         30         40         50
    MHLKIVLAFL ALSLITIFAL AYVLLTSPGG SSQPPHCPSV SHRAQPWPHP 
            60         70         80         90        100
    GQSQLFADLS REELTAVMRF LTQRLGPGLV DAAQAQPSDN CIFSVELQLP 
           110        120        130        140        150
    PKAAALAHLD RGSPPPAREA LAIVLFGGQP QPNVSELVVG PLPHPSYMRD 
           160        170        180        190        200
    VTVERHGGPL PYHRRPVLRA EFTQMWRHLK EVELPKAPIF LSSTFNYNGS 
           210        220        230        240        250
    TLAAVHATPR GLRSGDRATW MALYHNISGV GLFLHPVGLE LLLDHRALDP 
           260        270        280        290        300
    AHWTVQQVFY LGHYYADLGQ LEREFKSGRL EVVRVPLPPP NGASSLRSRN 
           310        320        330        340        350
    SPGPLPPLQF SPQGSQYSVQ GNLVVSSLWS FTFGHGVFSG LRIFDVRFQG 
           360        370        380        390        400
    ERIAYEVSVQ ECVSIYGADS PKTMLTRYLD SSFGLGRNSR GLVRGVDCPY 
           410        420        430        440        450
    QATMVDIHIL VGKGAVQLLP GAVCVFEEAQ GLPLRRHHNY LQNHFYGGLA 
           460        470        480        490        500
    SSALVVRSVS SVGNYDYIWD FVLYPNGALE GRVHATGYIN TAFLKGGEEG 
           510        520        530        540        550
    LLFGNRVGER VLGTVHTHAF HFKLDLDVAG LKNWVVAEDV VFKPVAAPWN 
           560        570        580        590        600
    PEHWLQRPQL TRQVLGKEDL TAFSLGSPLP RYLYLASNQT NAWGHQRGYR 
           610        620        630        640        650
    IQIHSPLGIH IPLESDMERA LSWGRYQLVV TQRKEEESQS SSIYHQNDIW 
           660        670        680        690        700
    TPTVTFADFI NNETLLGEDL VAWVTASFLH IPHAEDIPNT VTLGNRVGFL 
           710        720        730        740        750
    LRPYNFFDED PSIFSPGSVY FEKGQDAGLC SINPVACLPD LAACVPDLPP 

    FSYHGF
    Length:756
    Mass (Da):83,673
    Last modified:January 24, 2006 - v2
    Checksum:i10263D8D56D3BD25
    GO
    Isoform 2 (identifier: O75106-2) [UniParc]FASTAAdd to basket
    Also known as: Short

    The sequence of this isoform differs from the canonical sequence as follows:
         599-625: Missing.

    Show »
    Length:729
    Mass (Da):80,516
    Checksum:i5F28CCC8EE353415
    GO

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti181E → D (PubMed:9119395).Curated1
    Sequence conflicti181E → D (PubMed:9722954).Curated1
    Sequence conflicti215 – 218GDRA → RERT (PubMed:9119395).Curated4
    Sequence conflicti215 – 218GDRA → RERT (PubMed:9722954).Curated4
    Sequence conflicti221 – 222MA → IG (PubMed:9119395).Curated2
    Sequence conflicti610H → Q (PubMed:9119395).Curated1
    Sequence conflicti610H → Q (PubMed:9722954).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0250225I → V1 PublicationCorresponds to variant dbSNP:rs34230945Ensembl.1
    Natural variantiVAR_02502322Y → C1 PublicationCorresponds to variant dbSNP:rs34435306Ensembl.1
    Natural variantiVAR_025024141P → L1 PublicationCorresponds to variant dbSNP:rs35833794Ensembl.1
    Natural variantiVAR_025025273R → Q1 PublicationCorresponds to variant dbSNP:rs35508987Ensembl.1
    Natural variantiVAR_025026427E → D1 PublicationCorresponds to variant dbSNP:rs34351794Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_006549599 – 625Missing in isoform 2. 1 PublicationAdd BLAST27

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		D88213 mRNA Translation: BAA19001.1
    AB012943 Genomic DNA Translation: BAA32590.1
    AB012943 Genomic DNA Translation: BAA32589.1
    AF081363 mRNA Translation: AAD39345.1
    DQ060035 Genomic DNA Translation: AAY43129.1
    AC016889 Genomic DNA No translation available.
    CH471152 Genomic DNA Translation: EAW60895.1
    BC142641 mRNA Translation: AAI42642.1
    CCDSiCCDS11443.1 [O75106-1]
    CCDS45690.1 [O75106-2]
    RefSeqiNP_001149.2, NM_001158.4 [O75106-2]
    NP_033720.2, NM_009590.3 [O75106-1]
    UniGeneiHs.143102

    Genome annotation databases

    EnsembliENST00000253799; ENSP00000253799; ENSG00000131480 [O75106-1]
    ENST00000452774; ENSP00000406134; ENSG00000131480 [O75106-2]
    GeneIDi314
    KEGGihsa:314
    UCSCiuc002ibt.5 human [O75106-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Entry informationi

    Entry nameiAOC2_HUMAN
    AccessioniPrimary (citable) accession number: O75106
    Secondary accession number(s): A5PKW2
    , O00120, O75105, Q4TTW5, Q9UNY0
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: January 24, 2006
    Last modified: July 18, 2018
    This is version 155 of the entry and version 2 of the sequence. See 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 17
      Human chromosome 17: 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
    5. SIMILARITY comments
      Index of protein domains and families

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