• Gene id: 8639

Gene Summary

• Gene Symbol: AOC3   Gene   UCSC   Ensembl
• Aliases: HPAO, SSAO, VAP-1, VAP1
• Gene name: amine oxidase copper containing 3
• Alternate names: membrane primary amine oxidase, amine oxidase, copper containing 3 (vascular adhesion protein 1), copper amine oxidase, placenta copper monamine oxidase, semicarbazide-sensitive amine oxidase,
• Gene location: 17q21.31 (42851181: 42858129)     Exons: 6     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell sur
• OMIM: 173350

Protein Summary

• Protein general information: Q16853  
  • Name: Membrane primary amine oxidase (EC 1.4.3.21) (Copper amine oxidase) (HPAO) (Semicarbazide sensitive amine oxidase) (SSAO) (Vascular adhesion protein 1) (VAP 1)
  • Length: 763  
  • Mass: 84622
  • Tissue specificity: Strongly expressed on the high endothelial venules of peripheral lymph nodes and on hepatic endothelia. Also highly expressed in appendix, lung and small intestine. Expressed also in adipose tissue, in bone marrow, colon, heart, kidney
• Sequence:

  MNQKTILVLLILAVITIFALVCVLLVGRGGDGGEPSQLPHCPSVSPSAQPWTHPGQSQLFADLSREELTAVMRFL
  TQRLGPGLVDAAQARPSDNCVFSVELQLPPKAAALAHLDRGSPPPAREALAIVFFGRQPQPNVSELVVGPLPHPS
  YMRDVTVERHGGPLPYHRRPVLFQEYLDIDQMIFNRELPQASGLLHHCCFYKHRGRNLVTMTTAPRGLQSGDRAT
  WFGLYYNISGAGFFLHHVGLELLVNHKALDPARWTIQKVFYQGRYYDSLAQLEAQFEAGLVNVVLIPDNGTGGSW
  SLKSPVPPGPAPPLQFYPQGPRFSVQGSRVASSLWTFSFGLGAFSGPRIFDVRFQGERLVYEISLQEALAIYGGN
  SPAAMTTRYVDGGFGMGKYTTPLTRGVDCPYLATYVDWHFLLESQAPKTIRDAFCVFEQNQGLPLRRHHSDLYSH
  YFGGLAETVLVVRSMSTLLNYDYVWDTVFHPSGAIEIRFYATGYISSAFLFGATGKYGNQVSEHTLGTVHTHSAH
  FKVDLDVAGLENWVWAEDMVFVPMAVPWSPEHQLQRLQVTRKLLEMEEQAAFLVGSATPRYLYLASNHSNKWGHP
  RGYRIQMLSFAGEPLPQNSSMARGFSWERYQLAVTQRKEEEPSSSSVFNQNDPWAPTVDFSDFINNETIAGKDLV
  AWVTAGFLHIPHAEDIPNTVTVGNGVGFFLRPYNFFDEDPSFYSADSIYFRGDQDAGACEVNPLACLPQAAACAP
  DLPAFSHGGFSHN

• Structural information:
  • Interpro: IPR000269  IPR015798  IPR036460  IPR016182  IPR015800   IPR015802  
  • Prosite: PS01164 PS01165
  • PDB: 1PU4 1US1 2C10 2C11 2Y73 2Y74 3ALA 4BTW 4BTX 4BTY
  • PDBsum: 1PU4 1US1 2C10 2C11 2Y73 2Y74 3ALA 4BTW 4BTX 4BTY
  • STRING: ENSP00000312326
• Other Databases: GeneCards:  AOC3  Malacards:  AOC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008131	primary amine oxidase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005507	copper ion binding	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0046677	response to antibiotic	IBA	biological process
GO:0005769	early endosome	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0009308	amine metabolic process	IBA	biological process
GO:1902283	negative regulation of primary amine oxidase activity	IBA	biological process
GO:0005507	copper ion binding	IEA	molecular function
GO:0048038	quinone binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0009308	amine metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0052594	aminoacetone:oxygen oxidoreductase(deaminating) activity	IEA	molecular function
GO:0052593	tryptamine:oxygen oxidoreductase (deaminating) activity	IEA	molecular function
GO:0052595	aliphatic-amine oxidase activity	IEA	molecular function
GO:0052596	phenethylamine:oxygen oxidoreductase (deaminating) activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0008131	primary amine oxidase activity	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005507	copper ion binding	IDA	molecular function
GO:0008131	primary amine oxidase activity	IDA	NOT|molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0048038	quinone binding	IDA	molecular function
GO:0046677	response to antibiotic	IDA	biological process
GO:0008131	primary amine oxidase activity	IDA	molecular function
GO:0008131	primary amine oxidase activity	IDA	molecular function
GO:0005902	microvillus	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009308	amine metabolic process	IDA	biological process
GO:0007155	cell adhesion	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1902283	negative regulation of primary amine oxidase activity	IDA	biological process
GO:0005507	copper ion binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006954	inflammatory response	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00350	Tyrosine metabolism
hsa00410	beta-Alanine metabolism
hsa00260	Glycine, serine and threonine metabolism
hsa00360	Phenylalanine metabolism

Diseases

Associated diseases	References
Alzheimer's disease	PMID:17393059
congestive heart failure	PMID:11052858
Diabetic retinopathy	PMID:11522499
Cerebral amyloid angiopathy	PMID:17393059
type 2 diabetes mellitus	PMID:19336232
type 1 diabetes mellitus	PMID:12466139
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq