AOC1 amine oxidase copper containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AOC1provided by HGNC
Official Full Name: amine oxidase copper containing 1provided by HGNC
Primary source: HGNC:HGNC:80
See related: Ensembl:ENSG00000002726 MIM:104610; AllianceGenome:HGNC:80
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ABP; DAO; KAO; ABP1; DAO1; KDAO
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 spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
Expression: Biased expression in placenta (RPKM 229.3), kidney (RPKM 118.3) and 3 other tissues See more
Orthologs: all
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Genomic context

Location:: 7q36.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (150852120..150861504)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (152025287..152034270)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (150549605..150558592)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

m6A-enriched lncRNA LINC00839 promotes tumor progression by enhancing TAF15-mediated transcription of amine oxidase AOC1 in nasopharyngeal carcinoma.
Title: m6A-enriched lncRNA LINC00839 promotes tumor progression by enhancing TAF15-mediated transcription of amine oxidase AOC1 in nasopharyngeal carcinoma.
DAO levels were higher in atopic asthma and allergic rhinitis patients compared to controls. DAO had a high sensitivity and negative predictive value. There was a positive correlation between severity of diseases and DAO. DAO may be helpful in the assessment of severity and in ruling out respiratory allergy.
Title: Diamine oxidase enzyme: a novel biomarker in respiratory allergy.
Plasma diamine oxidase level > 19.7 ng/mL predicts high rate of 6-month readmission in patients with HBV-related decompensated cirrhosis.
Title: Plasma diamine oxidase level predicts 6-month readmission for patients with hepatitis B virus-related decompensated cirrhosis.
this study shows that single nucleotide polymorphism is associated with the severity of allergic rhinitis in a group of Mexican children
Title: Association between two polymorphisms of histamine-metabolising enzymes and the severity of allergic rhinitis in a group of Mexican children.
The T allele of rs3787429 exhibited protective effect against CHF under the dominant and additive models , while, for SNPs in HRH2, DAO, and HNMT, no significant associations were observed in the present study
Title: Associations of Polymorphisms in HRH2, HRH3, DAO, and HNMT Genes with Risk of Chronic Heart Failure.
HRH1-17 TT and HNMT-1639 TT genotypes were associated with the allergic asthma phenotype among African-American children and that the ABP 4107 GG genotype was associated with nonallergic asthma among white children.
Title: Genetic Variation along the Histamine Pathway in Children with Allergic versus Nonallergic Asthma.
This study findings suggest that DAO genotypes and allelic variants are associated with the risk for migraine in Caucasian Spanish people, especially in women.
Title: Diamine oxidase rs10156191 and rs2052129 variants are associated with the risk for migraine.
Serum diamine oxidase levels were influenced by the menstrual cycle.
Title: Effect of the menstrual cycle on serum diamine oxidase levels in healthy women.
Low diamine oxidase activity is associated with gastrointestinal tract toxicities during chemotherapy with oral fluorouracil anti-cancer drugs in patients with gastric cancer.(
Title: Plasma diamine oxidase activity is a useful biomarker for evaluating gastrointestinal tract toxicities during chemotherapy with oral fluorouracil anti-cancer drugs in patients with gastric cancer.
Diamine oxidase (DAO) variants were not associated with the histamine intolerance (HIT) phenotype per se, only with DAO activity alone and the subgroup of HIT patients displaying a reduced DAO activity.
Title: Association of single nucleotide polymorphisms in the diamine oxidase gene with diamine oxidase serum activities.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

ABP1 (e-PCR), detects polymorphism
- UniSTS:32801

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

RH71199 (e-PCR)
- UniSTS:8014

D7S2745 (e-PCR)
- UniSTS:19557

L17809 (e-PCR)
- UniSTS:39087

STS-T76997 (e-PCR)
- UniSTS:57556

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables copper ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables copper ion binding	IDA Inferred from Direct Assay more info	PubMed
enables diamine oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables diamine oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables heparin binding	IDA Inferred from Direct Assay more info	PubMed
enables histamine oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables methylputrescine oxidase activity	IEA Inferred from Electronic Annotation more info
enables primary amine oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables primary amine oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables propane-1,3-diamine oxidase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables putrescine oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables quinone binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in amine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in putrescine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to antibiotic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	NAS Non-traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: diamine oxidase [copper-containing]; amiloride-sensitive amine oxidase [copper-containing]

Names: amiloride binding protein 1 (amine oxidase (copper-containing)); amiloride-binding protein 1; amiloride-sensitive amine oxidase; amine oxidase copper domain-containing protein 1; diamine oxidase; histaminase; kidney amine oxidase

NP_001082.2

EC 1.4.3.22

NP_001259001.1

EC 1.4.3.22

XP_016867434.1

EC 1.4.3.22

XP_016867435.1

EC 1.4.3.22

XP_016867436.1

EC 1.4.3.22

XP_047276084.1

EC 1.4.3.22

XP_054213754.1

EC 1.4.3.22

XP_054213755.1

EC 1.4.3.22

XP_054213756.1

EC 1.4.3.22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001091.4 → NP_001082.2 diamine oxidase [copper-containing] isoform 2 precursor

See identical proteins and their annotated locations for NP_001082.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC006343, BC014093, U11862

Consensus CDS

CCDS43679.1

UniProtKB/Swiss-Prot

C9J690, P19801, Q16683, Q16684, Q56II4, Q6GU42

UniProtKB/TrEMBL

D3DX01

Related

ENSP00000354193.4, ENST00000360937.9

Conserved Domains (3) summary

pfam01179
Location:302 → 712

Cu_amine_oxid; Copper amine oxidase, enzyme domain

pfam02727
Location:39 → 125

Cu_amine_oxidN2; Copper amine oxidase, N2 domain

pfam02728
Location:141 → 241

Cu_amine_oxidN3; Copper amine oxidase, N3 domain
NM_001272072.2 → NP_001259001.1 diamine oxidase [copper-containing] isoform 1 precursor

See identical proteins and their annotated locations for NP_001259001.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC006343, BC014093, U11862, U11863

Consensus CDS

CCDS64797.1

UniProtKB/TrEMBL

D3DX01

Related

ENSP00000411613.2, ENST00000416793.6

Conserved Domains (3) summary

pfam01179
Location:302 → 731

Cu_amine_oxid; Copper amine oxidase, enzyme domain

pfam02727
Location:39 → 125

Cu_amine_oxidN2; Copper amine oxidase, N2 domain

pfam02728
Location:141 → 241

Cu_amine_oxidN3; Copper amine oxidase, N3 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

150852120..150861504

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017011945.2 → XP_016867434.1 amiloride-sensitive amine oxidase [copper-containing] isoform X1

UniProtKB/TrEMBL

D3DX01

Conserved Domains (3) summary

pfam01179
Location:302 → 731

Cu_amine_oxid; Copper amine oxidase, enzyme domain

pfam02727
Location:39 → 125

Cu_amine_oxidN2; Copper amine oxidase, N2 domain

pfam02728
Location:141 → 241

Cu_amine_oxidN3; Copper amine oxidase, N3 domain
XM_047420128.1 → XP_047276084.1 amiloride-sensitive amine oxidase [copper-containing] isoform X2

UniProtKB/Swiss-Prot

C9J690, P19801, Q16683, Q16684, Q56II4, Q6GU42

Related

ENSP00000418328.1, ENST00000467291.5
XM_017011946.3 → XP_016867435.1 amiloride-sensitive amine oxidase [copper-containing] isoform X1

UniProtKB/TrEMBL

D3DX01

Conserved Domains (3) summary

pfam01179
Location:302 → 731

Cu_amine_oxid; Copper amine oxidase, enzyme domain

pfam02727
Location:39 → 125

Cu_amine_oxidN2; Copper amine oxidase, N2 domain

pfam02728
Location:141 → 241

Cu_amine_oxidN3; Copper amine oxidase, N3 domain
XM_017011947.2 → XP_016867436.1 amiloride-sensitive amine oxidase [copper-containing] isoform X2

UniProtKB/Swiss-Prot

C9J690, P19801, Q16683, Q16684, Q56II4, Q6GU42

UniProtKB/TrEMBL

D3DX01

Conserved Domains (3) summary

pfam01179
Location:302 → 712

Cu_amine_oxid; Copper amine oxidase, enzyme domain

pfam02727
Location:39 → 125

Cu_amine_oxidN2; Copper amine oxidase, N2 domain

pfam02728
Location:141 → 241

Cu_amine_oxidN3; Copper amine oxidase, N3 domain

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

152025287..152034270

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054357779.1 → XP_054213754.1 amiloride-sensitive amine oxidase [copper-containing] isoform X3
XM_054357780.1 → XP_054213755.1 amiloride-sensitive amine oxidase [copper-containing] isoform X1
XM_054357781.1 → XP_054213756.1 amiloride-sensitive amine oxidase [copper-containing] isoform X2