AOC1 (amine oxidase copper containing 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 26
Gene name Amine oxidase copper containing 1
Gene symbol AOC1
Synonyms (NCBI Gene)
ABPABP1DAODAO1KAOKDAO
Chromosome 7
Chromosome location 7q36.1
Summary 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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
104610 80 ENSG00000002726
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 751
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Arginine and proline metabolism
Histidine metabolism
Tryptophan metabolism
Metabolic pathways 		  Phase I - Functionalization of compounds
Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (14)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (49)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 27255477
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 30248623
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 17651147
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 24460807 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Azoospermia, Nonobstructive Azoospermia BEFREE 29737873
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 10650812, 12009904, 12376482, 16030125, 24939871, 8634658
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12727801, 29880292, 30264234
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 29775160 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
C-cell hyperplasia of thyroid Thyroid Hyperplasia BEFREE 115572
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 10650812, 12009904, 12376482, 16030125, 24939871, 8634658
★★★★★
★☆☆☆☆
Found in Text Mining only