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Reviewed, UniProtKB/Swiss-Prot O75106 (AOC2_HUMAN)

Last modified July 7, 2009. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Retina-specific copper amine oxidase
      Short name=RAO
    EC=1.4.3.22
Alternative name(s):
    Amine oxidase [copper-containing]
Gene names
Name: AOC2
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length756 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level.

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General annotation (Comments)

Function

May be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine.

Catalytic activity

Histamine + H2O + O2 = (imidazol-4-yl)acetaldehyde + NH3 + H2O2.

Cofactor

Binds 1 copper ion per subunit By similarity.

Binds 2 calcium ions per subunit By similarity.

Contains 1 topaquinone per subunit By similarity.

Tissue specificity

Retinal specific.

Post-translational modification

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

Sequence similarities

Belongs to the copper/topaquinone oxidase family.

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Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform Long (identifier: O75106-1)

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.
Isoform Short (identifier: O75106-2)

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

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3232 Potential
Chain33 – 756724Retina-specific copper amine oxidase
PRO_0000035671

Sites

Active site3801Proton acceptor By similarity
Active site4651Schiff-base intermediate with substrate; via topaquinone By similarity
Metal binding5161Copper By similarity
Metal binding5181Copper By similarity
Metal binding5251Calcium 1 By similarity
Metal binding5261Calcium 1; via carbonyl oxygen By similarity
Metal binding5271Calcium 1 By similarity
Metal binding5681Calcium 2 By similarity
Metal binding6341Calcium 2 By similarity
Metal binding6591Calcium 2; via carbonyl oxygen By similarity
Metal binding6611Calcium 2 By similarity
Metal binding6631Calcium 2 By similarity
Metal binding6691Calcium 1 By similarity
Metal binding6701Calcium 1; via carbonyl oxygen By similarity
Metal binding6801Copper By similarity

Amino acid modifications

Modified residue46512',4',5'-topaquinone By similarity
Glycosylation1331N-linked (GlcNAc...) Potential
Glycosylation1981N-linked (GlcNAc...) Potential
Glycosylation2261N-linked (GlcNAc...) Potential
Glycosylation5881N-linked (GlcNAc...) Potential
Glycosylation6621N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence599 – 62527Missing in isoform Short.
VSP_006549
Natural variant51I → V Ref.4
VAR_025022
Natural variant221Y → C Ref.4
VAR_025023
Natural variant1411P → L Ref.4
VAR_025024
Natural variant2731R → Q Ref.4
VAR_025025
Natural variant4271E → D Ref.4
VAR_025026

Experimental info

Sequence conflict1811E → D Ref.1
Sequence conflict1811E → D Ref.2
Sequence conflict215 – 2184GDRA → RERT Ref.1
Sequence conflict215 – 2184GDRA → RERT Ref.2
Sequence conflict221 – 2222MA → IG Ref.1
Sequence conflict6101H → Q Ref.1
Sequence conflict6101H → Q Ref.2

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Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified January 24, 2006. Version 2.
Checksum: 10263D8D56D3BD25

FASTA75683,673
        10         20         30         40         50         60 
MHLKIVLAFL ALSLITIFAL AYVLLTSPGG SSQPPHCPSV SHRAQPWPHP GQSQLFADLS 

        70         80         90        100        110        120 
REELTAVMRF LTQRLGPGLV DAAQAQPSDN CIFSVELQLP PKAAALAHLD RGSPPPAREA 

       130        140        150        160        170        180 
LAIVLFGGQP QPNVSELVVG PLPHPSYMRD VTVERHGGPL PYHRRPVLRA EFTQMWRHLK 

       190        200        210        220        230        240 
EVELPKAPIF LSSTFNYNGS TLAAVHATPR GLRSGDRATW MALYHNISGV GLFLHPVGLE 

       250        260        270        280        290        300 
LLLDHRALDP AHWTVQQVFY LGHYYADLGQ LEREFKSGRL EVVRVPLPPP NGASSLRSRN 

       310        320        330        340        350        360 
SPGPLPPLQF SPQGSQYSVQ GNLVVSSLWS FTFGHGVFSG LRIFDVRFQG ERIAYEVSVQ 

       370        380        390        400        410        420 
ECVSIYGADS PKTMLTRYLD SSFGLGRNSR GLVRGVDCPY QATMVDIHIL VGKGAVQLLP 

       430        440        450        460        470        480 
GAVCVFEEAQ GLPLRRHHNY LQNHFYGGLA SSALVVRSVS SVGNYDYIWD FVLYPNGALE 

       490        500        510        520        530        540 
GRVHATGYIN TAFLKGGEEG LLFGNRVGER VLGTVHTHAF HFKLDLDVAG LKNWVVAEDV 

       550        560        570        580        590        600 
VFKPVAAPWN PEHWLQRPQL TRQVLGKEDL TAFSLGSPLP RYLYLASNQT NAWGHQRGYR 

       610        620        630        640        650        660 
IQIHSPLGIH IPLESDMERA LSWGRYQLVV TQRKEEESQS SSIYHQNDIW TPTVTFADFI 

       670        680        690        700        710        720 
NNETLLGEDL VAWVTASFLH IPHAEDIPNT VTLGNRVGFL LRPYNFFDED PSIFSPGSVY 

       730        740        750 
FEKGQDAGLC SINPVACLPD LAACVPDLPP FSYHGF

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Isoform Short.

Checksum: 5F28CCC8EE353415
Show »

FASTA72980,516

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References

[1]"Human retina-specific amine oxidase (RAO): cDNA cloning, tissue expression, and chromosomal mapping."
Imamura Y., Kubota R., Wang Y., Asakawa S., Kudoh J., Mashima Y., Oguchi Y., Shimizu N.
Genomics 40:277-283(1997) [PubMed: 9119395] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Retina.
[2]"Human retina-specific amine oxidase: genomic structure of the gene (AOC2), alternatively spliced variant, and mRNA expression in retina."
Imamura Y., Noda S., Mashima Y., Kudoh J., Oguchi Y., Shimizu N.
Genomics 51:293-298(1998) [PubMed: 9722954] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
[3]"Human copper-containing amine oxidases."
Zhang X., McIntire W.S.
Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Retina.
[4]NIEHS SNPs program
Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-5; CYS-22; LEU-141; GLN-273 AND ASP-427.

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Web resources

NIEHS-SNPs

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Cross-references

Sequence databases

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.
IPIIPI00024357.
IPI00293889.
RefSeqNP_001149.2.
NP_033720.2.
UniGeneHs.143102

3D structure databases

ModBaseSearch...

Proteomic databases

PRIDEO75106.

Genome annotation databases

EnsemblENSG00000131480. Homo sapiens. [Contig view]
GeneID314.
KEGGhsa:314.
NMPDRfig|9606.3.peg.13800.
UCSCuc002ibt.1. human.
uc002ibu.1. human.

Organism-specific databases

GeneCardsGC17P038250.
H-InvDBHIX0039050.
HGNCHGNC:549. AOC2.
MIM602268. gene.
PharmGKBPA24839.
GenAtlasSearch...

Phylogenomic databases

HOGENOMO75106.
HOVERGENO75106.
OMAO75106. YQATMVD.

Enzyme and pathway databases

BRENDA1.4.3.6. 247.

Gene expression databases

ArrayExpressO75106.
BgeeO75106.
CleanExHS_AOC2.
GermOnlineENSG00000131480. Homo sapiens.

Family and domain databases

InterProIPR000269. Cu_amine_oxidase.
IPR015798. Cu_amine_oxidase_C.
IPR015800. Cu_amine_oxidase_N2.
IPR015801. Cu_amine_oxidase_N2/3.
IPR015802. Cu_amine_oxidase_N3.
[Graphical view]
Gene3DG3DSA:3.10.450.40. CuNH_oxidase. 2 hits.
G3DSA:2.70.98.20. Lyase_8_central. 1 hit.
PANTHERPTHR10638. CuNH_oxidase. 1 hit.
PfamPF01179. Cu_amine_oxid. 1 hit.
PF02727. Cu_amine_oxidN2. 1 hit.
PF02728. Cu_amine_oxidN3. 1 hit.
[Graphical view]
PRINTSPR00766. CUDAOXIDASE.
PROSITEPS01164. COPPER_AMINE_OXID_1. 1 hit.
PS01165. COPPER_AMINE_OXID_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio1277.
SOURCESearch...

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Entry information

Entry nameAOC2_HUMAN
AccessionPrimary (citable) accession number: O75106
Secondary accession number(s): O00120 expand/collapse secondary AC list , O75105, Q4TTW5, Q9UNY0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 24, 2006
Last modified: July 7, 2009
This is version 81 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

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List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents