AOC1

protein-coding

amine oxidase copper containing 1

Gene 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]

Previous symbols:

ABP1
ABP

MANE transcript

NM_001091.4

Inheritance

—

ClinVar variants

U:109B:10

Top phenotype

Normal pregnancy

gnomAD constraint

pLI —, LoF o/e 0.63

Max pathogenic AF

—

Genomic locus

chr7:150,824,627-150,861,504

External References & Databases

Ensembl (ENSG00000002726)

Transcript & Mutation Effects

hg38 • Region Span ~36.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to AOC1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 111

not providedTotal: 6

Normal pregnancyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001091.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			105 clinvar	7 clinvar	1 clinvar	113
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	109	9	1	119

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 28 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001091.4	RefSeq	NP_001082.2	4	MANE Select
ENST00000360937.9	Ensembl	ENSP00000354193.4	4	MANE Select
NM_001272072.2	RefSeq	NP_001259001.1	4	Standard
ENST00000416793.6	Ensembl	ENSP00000411613.2	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Tryptophan metabolism - Homo sapiens (human)
Arginine and proline metabolism - Homo sapiens (human)
Histidine metabolism - Homo sapiens (human)
Tyrosinemia, transient, of the newborn
Dopamine beta-hydroxylase deficiency

Biological Process

xenobiotic metabolic process
amine metabolic process
cellular response to copper ion starvation
response to drug
neutrophil degranulation

Molecular Function

copper ion binding
calcium ion binding
primary amine oxidase activity
drug binding
heparin binding

Cellular Component

extracellular region
extracellular space
peroxisome
plasma membrane
bicellular tight junction

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000493429
Coding exons: 4
Length: 36878
Individuals with no LoFs: 125255
Homozygous LoFs: 0
Heterozygous LoFs: 83
Defined: 125338
p: 0.000331

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.758	428	474	0.902	0.0000304	4887
Missense (PolyPhen)		154	175.16	0.87918		1842
Synonymous	0.675	193	205	0.940	0.0000139	1548
Loss of Function	1.68	15	23.8	0.629	0.00000120	248

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00045	0.00043	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00072	0.00072	rare
Finnish	0.000093	0.000093	rare
European (Non-Finnish)	0.00034	0.00033	rare
South Asian	0.00053	0.00052	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: 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.;

Recessive Scores

pRec: 0.720

Intolerance Scores

RVIS EVS: -0.59
RVIS percentile EVS: 18.25

Essentials

Essential (CRISPR): N
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	High	Medium	High
Cancer	High	High	High