Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	26
Gene name Gene Name - the full gene name approved by the HGNC.	Amine oxidase copper containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AOC1
Synonyms (NCBI Gene) Gene synonyms aliases	ABP, ABP1, DAO, DAO1, KAO, KDAO
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q36.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005507	Function	Copper ion binding	IBA
GO:0005507	Function	Copper ion binding	IDA	12072962, 19764817
GO:0005507	Function	Copper ion binding	IEA
GO:0005509	Function	Calcium ion binding	IDA	12072962, 19764817
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	8144586
GO:0005615	Component	Extracellular space	IDA	9399025, 12072962
GO:0005777	Component	Peroxisome	NAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	2217167, 8144586
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005923	Component	Bicellular tight junction	ISS
GO:0008131	Function	Primary methylamine oxidase activity	IBA
GO:0008131	Function	Primary methylamine oxidase activity	IDA	8144586
GO:0008131	Function	Primary methylamine oxidase activity	IEA
GO:0008201	Function	Heparin binding	IDA	19764817
GO:0008201	Function	Heparin binding	IEA
GO:0009308	Process	Amine metabolic process	IEA
GO:0009445	Process	Putrescine metabolic process	IBA
GO:0009445	Process	Putrescine metabolic process	IMP	8144586
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0042803	Function	Protein homodimerization activity	IPI	19764817
GO:0046872	Function	Metal ion binding	IEA
GO:0048038	Function	Quinone binding	IEA
GO:0050232	Function	Putrescine oxidase activity	IDA	7626074, 12072962, 19764817
GO:0050232	Function	Putrescine oxidase activity	IEA
GO:0052597	Function	Diamine oxidase activity	IBA
GO:0052597	Function	Diamine oxidase activity	IDA	8144586, 9399025, 12072962, 16846222
GO:0052598	Function	Histamine oxidase activity	IDA	12072962
GO:0052598	Function	Histamine oxidase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674

MIM	HGNC	e!Ensembl
104610	80	ENSG00000002726

Protein

UniProt ID

P19801

Protein name

Diamine oxidase [copper-containing] (Diamine oxidase) (EC 1.4.3.22) (Amiloride-binding protein) (Amiloride-binding protein 1) (Amine oxidase copper domain-containing protein 1) (Histaminase) (Kidney amine oxidase) (KAO) (KDAO)

Protein function

Catalyzes the oxidative deamination of primary amines to the corresponding aldehydes with the concomitant production of hydrogen peroxide and ammonia (PubMed:12072962, PubMed:19764817, PubMed:239684, PubMed:8144586). Its preferred substrates are

PDB

3HI7 , 3HIG , 3HII , 3K5T , 3MPH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02727	Cu_amine_oxidN2	39 → 125	Copper amine oxidase, N2 domain	Domain
PF02728	Cu_amine_oxidN3	141 → 241	Copper amine oxidase, N3 domain	Domain
PF01179	Cu_amine_oxid	300 → 712	Copper amine oxidase, enzyme domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with higher expression in placenta and kidney. {ECO:0000269|PubMed:12072962}.

Sequence

MPALGWAVAAILMLQTAMAEPSPGTLPRKAGVFSDLSNQELKAVHSFLWSKKELRLQPSS
TTTMAKNTVFLIEMLLPKKYHVLRFLDKGERHPVREARAVIFFGDQEHPNVTEFAVGPLP
GPCYMRALSPRPGYQSSWASRPISTAEYALLYHTLQEATKPLHQFFLNTTGFSFQDCHDR
CLAFTDVAPRGVASGQRRSWLIIQRYVEGYFLHPTGLELLVDHGSTDAGHWAVEQVWYNG
KFYGSPEELARKYADGEVDVVVLEDPLPGGKGHDSTEEPPLFSSHKPRGDFPSPIHVSGP
RLVQPHGPRFRLEGNAVLYGGWSFAFRLRSSSGLQVLNVHFGGERIAYEVSVQEAVALYG
GHTPAGMQTKYLDVGWGLGSVTHELAPGIDCPETATFLDTFHYYDADDPVHYPRALCLFE
MPTGVPLRRHFNSNFKGGFNFYAGLKGQVLVLRTTSTVYNYDYIWDFIFYPNGVMEAKMH
ATGYVHATFYTPEGLRHGTRLHTHLIGNIHTHLVHYRVDLDVAGTKNSFQTLQMKLENIT
NPWSPRHRVVQPTLEQTQYSWERQAAFRFKRKLPKYLLFTSPQENPWGHKRTYRLQIHSM
ADQVLPPGWQEEQAITWARYPLAVTKYRESELCSSSIYHQNDPWHPPVVFEQFLHNNENI
ENEDLVAWVTVGFLHIPHSEDIPNTATPGNSVGFLLRPFNFFPEDPSLASRDTVIVWPRD
NGPNYVQRWIPEDRDCSMPPPFSYNGTYRPV

Sequence length

751

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Histidine metabolism Tryptophan metabolism Metabolic pathways		Phase I - Functionalization of compounds Neutrophil degranulation

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Carpal Tunnel Syndrome	Carpal tunnel syndrome	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Gout	Gout	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Atrial Fibrillation	Associate	24460807
Breast Neoplasms	Associate	29775160
Chemical and Drug Induced Liver Injury	Associate	34464454
Colitis Ulcerative	Associate	16489678
Colorectal Neoplasms	Associate	32453965
Diabetes Mellitus Type 2	Associate	38583950
Exostoses	Associate	34582124
Hemolytic Uremic Syndrome	Associate	29545352
Lymphatic Metastasis	Associate	35922412
Migraine Disorders	Associate	27130307
Nasopharyngeal Carcinoma	Associate	37257820
Neoplasms	Associate	35922412, 37257820
Neurologic Manifestations	Associate	34582124
Osteoporosis	Stimulate	39949270
Prostatic Neoplasms	Inhibit	35922412

AOC1 (amine oxidase copper containing 1)