• Gene id: 26

Gene Summary

• Gene Symbol: AOC1   Gene   UCSC   Ensembl
• Aliases: ABP, ABP1, DAO, DAO1, KAO
• Gene name: amine oxidase copper containing 1
• Alternate names: amiloride-sensitive amine oxidase [copper-containing], 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, histaminas,
• Gene location: 7q36.1 (150824874: 150861503)     Exons: 10     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 601801

SNPs

rs875989885

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.133555706G>A
NC_000010.10   g.135369210G>A
NG_052008.1   g.17570C>T
NM_130784.3   c.613C>T
NM_130784.2   c.613C>T
NM_001143764.2   c.721C>T
NM_001143764.3   c.721C>T
NM_001143764.1   c.721C>T
NM_001143763.1   c.721C>T
NP_570140.1   p.Gln205Ter
NP_001137  

rs774225566

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.133558953T>C
NC_000010.10   g.135372457T>C
NG_052008.1   g.14323A>G|SEQ=[T/C]|GENE=SYCE1

rs28368082

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.57335452C>T
NC_000020.10   g.55910508C>T
XM_005260382.4   c.631C>T
XM_005260382.1   c.631C>T
XM_005260379.3   c.631C>T
XM_005260379.1   c.631C>T
XM_005260380.3   c.631C>T
XM_005260380.1   c.631C>T
XM_005260381.3   c.631C>T
XM_005260381.1   c.631C>T
NM_0  

rs28368064

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.57330052G>A
NC_000020.11   g.57330052G>T
NC_000020.10   g.55905108G>A
NC_000020.10   g.55905108G>T|SEQ=[G/A/T]|GENE=SPO11
LOC105372687   105372687

rs28368062

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.57329973A>C
NC_000020.11   g.57329973A>G
NC_000020.11   g.57329973A>T
NC_000020.10   g.55905029A>C
NC_000020.10   g.55905029A>G
NC_000020.10   g.55905029A>T
XM_005260382.4   c.106A>C
XM_005260382.4   c.106A>G
XM_005260382.4   c.106A>T
XM_005260382.1   c

rs6563386

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs3736832

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.57333213A>G
NC_000020.10   g.55908269A>G
XM_005260382.4   c.271A>G
XM_005260382.1   c.271A>G
XM_005260379.3   c.271A>G
XM_005260379.1   c.271A>G
XM_005260380.3   c.271A>G
XM_005260380.1   c.271A>G
XM_005260381.3   c.271A>G
XM_005260381.1   c.271A>G
NM_0  

rs2231829

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45547937G>A
NC_000020.10   g.44176576G>A|SEQ=[G/A]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs1328626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs699664

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.85553413C>T
NC_000002.11   g.85780536C>T
NG_011811.2   g.13122G>A
NM_000821.7   c.974G>A
NM_000821.6   c.974G>A
NM_000821.5   c.974G>A
NM_001142269.4   c.803G>A
NM_001142269.3   c.803G>A
NM_001142269.2   c.803G>A
XM_005264259.5   c.974G>A
XM_005264259.1  

rs11594

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45542073C>A
NC_000020.11   g.45542073C>G
NC_000020.11   g.45542073C>T
NC_000020.10   g.44170712C>A
NC_000020.10   g.44170712C>G
NC_000020.10   g.44170712C>T
NM_020398.3   c.*71G>T
NM_020398.3   c.*71G>C
NM_020398.3   c.*71G>A
NM_020398.4   c.*71G>T
NM_0  

rs7588620

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227534764T>A
NC_000002.12   g.227534764T>C
NC_000002.11   g.228399480T>A
NC_000002.11   g.228399480T>C|SEQ=[T/A/C]|GENE=AGFG1

rs13426422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227485023T>G
NC_000002.11   g.228349739T>G|SEQ=[T/G]|GENE=AGFG1

rs13382948

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227554241A>G
NC_000002.11   g.228418957A>G|SEQ=[A/G]|GENE=AGFG1

rs3743104

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.32731784A>C
NC_000015.10   g.32731784A>G
NC_000015.10   g.32731784A>T
NC_000015.9   g.33023985A>C
NC_000015.9   g.33023985A>G
NC_000015.9   g.33023985A>T
NG_033791.1   g.18781A>C
NG_033791.1   g.18781A>G
NG_033791.1   g.18781A>T
NG_033791.2   g.18781A>C

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

rs10246939

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.141972804T>C
NC_000007.13   g.141672604T>C
NG_016141.1   g.5970A>G
NM_176817.5   c.886A>G
NM_176817.4   c.886A>G
NW_003571040.1   g.114755T>C
NP_789787.5   p.Ile296Val|SEQ=[T/C]|GENE=TAS2R38

rs17167484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134371303T>G
NC_000005.9   g.133706994T>G
NG_042179.2   g.4745A>C
NG_046936.1   g.5128T>G
NM_003337.3   c.-293T>G
XM_017009544.2   c.-937A>C
XM_017009545.2   c.-742A>C
XM_024446086.1   c.-327A>C
XM_024446097.1   c.-729A>C
XM_024446096.1   c.-708A>C
XM_0  

Protein Summary

• Protein general information: P19801  
  • Name: Amiloride sensitive amine oxidase [copper containing] (DAO) (Diamine oxidase) (EC 1.4.3.22) (Amiloride binding protein 1) (Amine oxidase copper domain containing protein 1) (Histaminase) (Kidney amine oxidase) (KAO)
  • Length: 751  
  • Mass: 85378
  • Tissue specificity: Placenta and kidney.
• Sequence:

  MPALGWAVAAILMLQTAMAEPSPGTLPRKAGVFSDLSNQELKAVHSFLWSKKELRLQPSSTTTMAKNTVFLIEML
  LPKKYHVLRFLDKGERHPVREARAVIFFGDQEHPNVTEFAVGPLPGPCYMRALSPRPGYQSSWASRPISTAEYAL
  LYHTLQEATKPLHQFFLNTTGFSFQDCHDRCLAFTDVAPRGVASGQRRSWLIIQRYVEGYFLHPTGLELLVDHGS
  TDAGHWAVEQVWYNGKFYGSPEELARKYADGEVDVVVLEDPLPGGKGHDSTEEPPLFSSHKPRGDFPSPIHVSGP
  RLVQPHGPRFRLEGNAVLYGGWSFAFRLRSSSGLQVLNVHFGGERIAYEVSVQEAVALYGGHTPAGMQTKYLDVG
  WGLGSVTHELAPGIDCPETATFLDTFHYYDADDPVHYPRALCLFEMPTGVPLRRHFNSNFKGGFNFYAGLKGQVL
  VLRTTSTVYNYDYIWDFIFYPNGVMEAKMHATGYVHATFYTPEGLRHGTRLHTHLIGNIHTHLVHYRVDLDVAGT
  KNSFQTLQMKLENITNPWSPRHRVVQPTLEQTQYSWERQAAFRFKRKLPKYLLFTSPQENPWGHKRTYRLQIHSM
  ADQVLPPGWQEEQAITWARYPLAVTKYRESELCSSSIYHQNDPWHPPVVFEQFLHNNENIENEDLVAWVTVGFLH
  IPHSEDIPNTATPGNSVGFLLRPFNFFPEDPSLASRDTVIVWPRDNGPNYVQRWIPEDRDCSMPPPFSYNGTYRP
  V

• Structural information:
  • Interpro: IPR000269  IPR015798  IPR036460  IPR016182  IPR015800   IPR015802  
  • Prosite: PS01164 PS01165
  • PDB: 3HI7 3HIG 3HII 3K5T 3MPH
  • PDBsum: 3HI7 3HIG 3HII 3K5T 3MPH
  • STRING: ENSP00000411613
• Other Databases: GeneCards:  AOC1  Malacards:  AOC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009308	amine metabolic process	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0052597	diamine oxidase activity	IBA	molecular function
GO:0046677	response to antibiotic	IBA	biological process
GO:0008131	primary amine oxidase activity	IBA	molecular function
GO:0005507	copper ion binding	IBA	molecular function
GO:0005507	copper ion binding	IEA	molecular function
GO:0008131	primary amine oxidase activity	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:0005576	extracellular region	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0052597	diamine oxidase activity	IEA	molecular function
GO:0052599	methylputrescine oxidase activity	IEA	molecular function
GO:0052598	histamine oxidase activity	IEA	molecular function
GO:0052600	propane-1,3-diamine oxidase activity	IEA	molecular function
GO:0008131	primary amine oxidase activity	IDA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0035580	specific granule lumen	TAS	cellular component
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:0005615	extracellular space	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0097185	cellular response to azide	IDA	biological process
GO:0071420	cellular response to histamine	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0048038	quinone binding	IDA	molecular function
GO:0046677	response to antibiotic	IDA	biological process
GO:0046677	response to antibiotic	IDA	biological process
GO:0008131	primary amine oxidase activity	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005507	copper ion binding	IDA	molecular function
GO:0071280	cellular response to copper ion	IDA	biological process
GO:0042493	response to drug	IDA	biological process
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0008201	heparin binding	IDA	molecular function
GO:0008201	heparin binding	IDA	molecular function
GO:0008144	drug binding	IDA	molecular function
GO:0008144	drug binding	IDA	molecular function
GO:0052597	diamine oxidase activity	IDA	molecular function
GO:0052597	diamine oxidase activity	IDA	molecular function
GO:0052597	diamine oxidase activity	IDA	molecular function
GO:0052597	diamine oxidase activity	IDA	molecular function
GO:0048038	quinone binding	IDA	molecular function
GO:0035874	cellular response to copper ion starvation	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005507	copper ion binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0071504	cellular response to heparin	TAS	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005923	bicellular tight junction	ISS	cellular component
GO:0005777	peroxisome	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00330	Arginine and proline metabolism
hsa00380	Tryptophan metabolism
hsa00340	Histidine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R