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retina-specific copper amine oxidase; RAO; amine oxidase [copper-containing]; semicarbazide-sensitive amine oxidase; SSAO (AOC2)
Function:
1) modulates signal transmission in retina
2) degrades biogenic amines dopamine, histamine, putrescine
3) may play a role in adipogenesis
4) topaquinone is generated by copper-dependent autoxidation of a specific Tyr
5) forms heterodimer with AOC3, in vitro
RCH2NH2 + H2O + O2 RCHO + NH2 + H2O2
Cofactor: binds 1 Cu+1/Cu+2 ion per subunit binds 2 Ca+2 per subunit contains 1 topaquinone per subunit
Kinetic parameters:
- KM=0.056 mM for tryptamine
- KM=0.077 mM for 2-phenylethylamine
- KM=0.167 mM for benzylamine
- KM=0.178 mM for p-tyramine
- KM=1.7 mM for methylamine
Structure: belongs to the copper/topaquinone oxidase family
Compartment:
- isoform 1: cell membrane
- isoform 2: cytoplasm
Alternative splicing:
- named isoforms=2
- additional isoforms seem to exist
Expression:
- expressed in many tissues
- much higher expression in retina
- isoform 1 & isoform 2 are expressed in adipose tissue
- up-regulated during in vitro adipocyte differentiation
- isoform 1 only seems to be expressed in thymus
- isoform 2 only expressed in testis
General
amine oxidoreductase
Ca+2 binding protein
glycoprotein
Properties
SIZE: MW = 84 kD
entity length = 756 aa
MOTIF: signal sequence {1-32}
N-glycosylation site {N133}
N-glycosylation site {N198}
N-glycosylation site {N226}
aspartate residue {D380}
tyrosine residue {Y465}
copper [Cu]-binding site
SITE: 516-516
MOTIF: histidine residue (3)
copper [Cu]-binding site
SITE: 518-518
MOTIF: histidine residue (3)
Ca+2-binding site
SITE: 525-525
Ca+2-binding site
SITE: 526-526
Ca+2-binding site
SITE: 527-527
Ca+2-binding site
SITE: 568-568
N-glycosylation site {N588}
Ca+2-binding site
SITE: 634-634
Ca+2-binding site
SITE: 659-659
Ca+2-binding site
SITE: 661-661
N-glycosylation site {N662}
Ca+2-binding site
SITE: 663-663
Ca+2-binding site
SITE: 669-669
Ca+2-binding site
SITE: 670-670
copper [Cu]-binding site
SITE: 680-680
MOTIF: histidine residue (3)
Database Correlations
OMIM 602268
UniProt O75106
PFAM correlations
Entrez Gene 314
Kegg hsa:314
ENZYME 1.4.3.21
References
- UniProt :accession O75106
- NIEHS-SNPs
http://egp.gs.washington.edu/data/aoc2/