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Protein

Amiloride-sensitive amine oxidase [copper-containing]

Gene

AOC1

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

Functioni

Catalyzes the degradation of compounds such as putrescine, histamine, spermine, and spermidine, substances involved in allergic and immune responses, cell proliferation, tissue differentiation, tumor formation, and possibly apoptosis. Placental DAO is thought to play a role in the regulation of the female reproductive function.

Miscellaneous

Inhibited by amiloride in a competitive manner.By similarity

Catalytic activityi

Histamine + H2O + O2 = (imidazol-4-yl)acetaldehyde + NH3 + H2O2.1 Publication

Cofactori

Protein has several cofactor binding sites:

Activity regulationi

Inhibited by isoniazid, cimetidine, clonidine, pentamidine, berenil and pentamidine.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei373Proton acceptor1 Publication1
Active sitei461Schiff-base intermediate with substrate; via topaquinoneCombined sources1 Publication1
Metal bindingi510Copper; via tele nitrogenCombined sources1 Publication1
Metal bindingi512Copper; via tele nitrogenCombined sources1 Publication1
Metal bindingi519Calcium 1Combined sources1 Publication1
Metal bindingi520Calcium 1; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi521Calcium 1Combined sources1 Publication1
Metal bindingi562Calcium 2Combined sources1 Publication1
Metal bindingi653Calcium 2; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi656Calcium 2Combined sources1 Publication1
Metal bindingi658Calcium 2Combined sources1 Publication1
Metal bindingi664Calcium 1Combined sources1 Publication1
Metal bindingi665Calcium 1; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi675Copper; via pros nitrogenCombined sources1 Publication1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHeparin-binding, Oxidoreductase
LigandCalcium, Copper, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00083-MONOMER
BRENDAi1.4.3.22 2681
ReactomeiR-HSA-211945 Phase I - Functionalization of compounds
R-HSA-6798695 Neutrophil degranulation

Names & Taxonomyi

Protein namesi
Recommended name:
Amiloride-sensitive amine oxidase [copper-containing] (EC:1.4.3.221 Publication)
Short name:
DAO
Short name:
Diamine oxidase
Alternative name(s):
Amiloride-binding protein 1
Amine oxidase copper domain-containing protein 1
Histaminase
Kidney amine oxidase
Short name:
KAO
Gene namesi
Name:AOC1
Synonyms:ABP1, DAO1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000002726.19
HGNCiHGNC:80 AOC1
MIMi104610 gene
neXtProtiNX_P19801

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

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi26
OpenTargetsiENSG00000002726
PharmGKBiPA24416

Chemistry databases

ChEMBLiCHEMBL2118
DrugBankiDB00594 Amiloride
DB03608 Diminazene

Polymorphism and mutation databases

DMDMi251757489

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 191 PublicationAdd BLAST19
ChainiPRO_000003566620 – 751Amiloride-sensitive amine oxidase [copper-containing]Add BLAST732

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi110N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi168N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation1
Disulfide bondi177 ↔ 181Combined sources1 Publication
Disulfide bondi391 ↔ 417Combined sources1 Publication
Modified residuei4612',4',5'-topaquinone1 Publication1
Glycosylationi538N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Disulfide bondi736InterchainCombined sources1 Publication
Glycosylationi745N-linked (GlcNAc...) asparagineCombined sources1 Publication1

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

PaxDbiP19801
PeptideAtlasiP19801
PRIDEiP19801
ProteomicsDBi53688
53689 [P19801-2]
TopDownProteomicsiP19801-1 [P19801-1]

PTM databases

iPTMnetiP19801
PhosphoSitePlusiP19801

Expressioni

Tissue specificityi

Placenta and kidney.

Gene expression databases

BgeeiENSG00000002726 Expressed in 98 organ(s), highest expression level in decidua
CleanExiHS_ABP1
ExpressionAtlasiP19801 baseline and differential
GenevisibleiP19801 HS

Organism-specific databases

HPAiHPA031032
HPA031033

Interactioni

Subunit structurei

Homodimer; disulfide-linked.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106544, 1 interactor
IntActiP19801, 10 interactors
STRINGi9606.ENSP00000354193

Chemistry databases

BindingDBiP19801

Structurei

Secondary structure

1751
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP19801
SMRiP19801
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP19801

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni371 – 381Substrate bindingCombined sources1 PublicationAdd BLAST11
Regioni458 – 463Substrate bindingCombined sources1 Publication6
Regioni568 – 575Heparin-bindingBy similarity8

Sequence similaritiesi

Belongs to the copper/topaquinone oxidase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG1186 Eukaryota
COG3733 LUCA
GeneTreeiENSGT00510000046461
HOGENOMiHOG000233919
HOVERGENiHBG004164
InParanoidiP19801
KOiK11182
OMAiGIDCPEI
OrthoDBiEOG091G0C1O
PhylomeDBiP19801
TreeFamiTF314750

Family and domain databases

Gene3Di2.70.98.20, 1 hit
InterProiView protein in InterPro
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
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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P19801-1) [UniParc]FASTAAdd to basket

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
MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS
60 70 80 90 100
KKELRLQPSS TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV
110 120 130 140 150
IFFGDQEHPN VTEFAVGPLP GPCYMRALSP RPGYQSSWAS RPISTAEYAL
160 170 180 190 200
LYHTLQEATK PLHQFFLNTT GFSFQDCHDR CLAFTDVAPR GVASGQRRSW
210 220 230 240 250
LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG KFYGSPEELA
260 270 280 290 300
RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
310 320 330 340 350
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV
360 370 380 390 400
SVQEAVALYG GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT
410 420 430 440 450
FHYYDADDPV HYPRALCLFE MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL
460 470 480 490 500
VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH ATGYVHATFY TPEGLRHGTR
510 520 530 540 550
LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT NPWSPRHRVV
560 570 580 590 600
QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
610 620 630 640 650
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF
660 670 680 690 700
EQFLHNNENI ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN
710 720 730 740 750
FFPEDPSLAS RDTVIVWPRD NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP

V
Length:751
Mass (Da):85,378
Last modified:July 7, 2009 - v4
Checksum:i37114CD0D446639C
GO
Isoform 2 (identifier: P19801-2) [UniParc]FASTAAdd to basket
Also known as: DAO2

The sequence of this isoform differs from the canonical sequence as follows:
     618-618: A → ARTEGGQPRALSQAASPVPG

Show »
Length:770
Mass (Da):87,239
Checksum:iCA4864D23DB6D7CC
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J2J4C9J2J4_HUMAN
Amine oxidase
AOC1
337Annotation score:
C9J0G8C9J0G8_HUMAN
Amine oxidase
AOC1
249Annotation score:

Sequence cautioni

The sequence AAA58358 differs from that shown. Reason: Frameshift at positions 266, 284, 328, 494, 497, 514, 707 and 729.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti28R → A AA sequence (PubMed:8144586).Curated1
Sequence conflicti280P → A in AAA58358 (PubMed:2217167).Curated1
Sequence conflicti290D → T in AAA58358 (PubMed:2217167).Curated1
Sequence conflicti572K → R in AAA58358 (PubMed:2217167).Curated1
Sequence conflicti592T → S in AAA58358 (PubMed:2217167).Curated1
Sequence conflicti592T → S in CAA55046 (PubMed:8182053).Curated1
Sequence conflicti592T → S in AAC50270 (PubMed:8595053).Curated1
Sequence conflicti592T → S in AAB60381 (PubMed:8595053).Curated1
Sequence conflicti592T → S in AAH14093 (PubMed:15489334).Curated1
Isoform 2 (identifier: P19801-2)
Sequence conflicti632A → R in AAB60381 (PubMed:8595053).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02507816T → M1 PublicationCorresponds to variant dbSNP:rs10156191Ensembl.1
Natural variantiVAR_025079332S → F2 PublicationsCorresponds to variant dbSNP:rs1049742Ensembl.1
Natural variantiVAR_025080479M → I1 PublicationCorresponds to variant dbSNP:rs45558339Ensembl.1
Natural variantiVAR_007542645H → D4 PublicationsCorresponds to variant dbSNP:rs1049793Ensembl.1
Natural variantiVAR_025081659N → H1 PublicationCorresponds to variant dbSNP:rs35070995Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055190618A → ARTEGGQPRALSQAASPVPG in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M55602 mRNA Translation: AAA58358.1 Frameshift.
X78212 Genomic DNA Translation: CAA55046.1
U11862 mRNA Translation: AAC50270.1
U11863 mRNA Translation: AAB60381.1
AY948960 Genomic DNA Translation: AAX81409.1
AC006343 Genomic DNA No translation available.
AC006479 Genomic DNA No translation available.
BC014093 mRNA Translation: AAH14093.1
CCDSiCCDS43679.1 [P19801-1]
CCDS64797.1 [P19801-2]
PIRiA54053
RefSeqiNP_001082.2, NM_001091.3 [P19801-1]
NP_001259001.1, NM_001272072.1 [P19801-2]
XP_016867433.1, XM_017011944.1 [P19801-2]
XP_016867434.1, XM_017011945.1 [P19801-2]
XP_016867435.1, XM_017011946.1 [P19801-2]
XP_016867436.1, XM_017011947.1 [P19801-1]
UniGeneiHs.647097
Hs.733889

Genome annotation databases

EnsembliENST00000360937; ENSP00000354193; ENSG00000002726 [P19801-1]
ENST00000416793; ENSP00000411613; ENSG00000002726 [P19801-2]
ENST00000467291; ENSP00000418328; ENSG00000002726 [P19801-1]
ENST00000493429; ENSP00000418614; ENSG00000002726 [P19801-1]
GeneIDi26
KEGGihsa:26
UCSCiuc003whz.3 human [P19801-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M55602 mRNA Translation: AAA58358.1 Frameshift.
X78212 Genomic DNA Translation: CAA55046.1
U11862 mRNA Translation: AAC50270.1
U11863 mRNA Translation: AAB60381.1
AY948960 Genomic DNA Translation: AAX81409.1
AC006343 Genomic DNA No translation available.
AC006479 Genomic DNA No translation available.
BC014093 mRNA Translation: AAH14093.1
CCDSiCCDS43679.1 [P19801-1]
CCDS64797.1 [P19801-2]
PIRiA54053
RefSeqiNP_001082.2, NM_001091.3 [P19801-1]
NP_001259001.1, NM_001272072.1 [P19801-2]
XP_016867433.1, XM_017011944.1 [P19801-2]
XP_016867434.1, XM_017011945.1 [P19801-2]
XP_016867435.1, XM_017011946.1 [P19801-2]
XP_016867436.1, XM_017011947.1 [P19801-1]
UniGeneiHs.647097
Hs.733889

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3HI7X-ray1.80A/B21-751[»]
3HIGX-ray2.09A/B21-751[»]
3HIIX-ray2.15A/B21-751[»]
3K5TX-ray2.11A21-751[»]
3MPHX-ray2.05A/B21-751[»]
ProteinModelPortaliP19801
SMRiP19801
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106544, 1 interactor
IntActiP19801, 10 interactors
STRINGi9606.ENSP00000354193

Chemistry databases

BindingDBiP19801
ChEMBLiCHEMBL2118
DrugBankiDB00594 Amiloride
DB03608 Diminazene

PTM databases

iPTMnetiP19801
PhosphoSitePlusiP19801

Polymorphism and mutation databases

DMDMi251757489

Proteomic databases

PaxDbiP19801
PeptideAtlasiP19801
PRIDEiP19801
ProteomicsDBi53688
53689 [P19801-2]
TopDownProteomicsiP19801-1 [P19801-1]

Protocols and materials databases

DNASUi26
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360937; ENSP00000354193; ENSG00000002726 [P19801-1]
ENST00000416793; ENSP00000411613; ENSG00000002726 [P19801-2]
ENST00000467291; ENSP00000418328; ENSG00000002726 [P19801-1]
ENST00000493429; ENSP00000418614; ENSG00000002726 [P19801-1]
GeneIDi26
KEGGihsa:26
UCSCiuc003whz.3 human [P19801-1]

Organism-specific databases

CTDi26
DisGeNETi26
EuPathDBiHostDB:ENSG00000002726.19
GeneCardsiAOC1
H-InvDBiHIX0007216
HGNCiHGNC:80 AOC1
HPAiHPA031032
HPA031033
MIMi104610 gene
neXtProtiNX_P19801
OpenTargetsiENSG00000002726
PharmGKBiPA24416
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1186 Eukaryota
COG3733 LUCA
GeneTreeiENSGT00510000046461
HOGENOMiHOG000233919
HOVERGENiHBG004164
InParanoidiP19801
KOiK11182
OMAiGIDCPEI
OrthoDBiEOG091G0C1O
PhylomeDBiP19801
TreeFamiTF314750

Enzyme and pathway databases

BioCyciMetaCyc:HS00083-MONOMER
BRENDAi1.4.3.22 2681
ReactomeiR-HSA-211945 Phase I - Functionalization of compounds
R-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

ChiTaRSiAOC1 human
EvolutionaryTraceiP19801
GenomeRNAii26
PROiPR:P19801
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000002726 Expressed in 98 organ(s), highest expression level in decidua
CleanExiHS_ABP1
ExpressionAtlasiP19801 baseline and differential
GenevisibleiP19801 HS

Family and domain databases

Gene3Di2.70.98.20, 1 hit
InterProiView protein in InterPro
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
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
ProtoNetiSearch...

Entry informationi

Entry nameiAOC1_HUMAN
AccessioniPrimary (citable) accession number: P19801
Secondary accession number(s): C9J690
, Q16683, Q16684, Q56II4, Q6GU42
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: July 7, 2009
Last modified: November 7, 2018
This is version 188 of the entry and version 4 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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