AOC1 (amine oxidase copper containing 1)

2013-07-01  

Identity

HGNC
AOC1
LOCATION
7q36.1
LOCUSID
26
ALIAS
ABP,ABP1,DAO,DAO1,KAO

Other Information

Locus ID:

NCBI: 26
MIM: 104610
HGNC: 80
Ensembl: ENSG00000002726

Variants:

dbSNP: 26
ClinVar: 26
TCGA: ENSG00000002726
COSMIC: AOC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000002726ENST00000360937P19801
ENSG00000002726ENST00000416793P19801
ENSG00000002726ENST00000460213C9J0G8
ENSG00000002726ENST00000467291P19801
ENSG00000002726ENST00000483043C9J2J4
ENSG00000002726ENST00000493429P19801

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Arginine and proline metabolismKEGGko00330
Histidine metabolismKEGGko00340
Tryptophan metabolismKEGGko00380
Arginine and proline metabolismKEGGhsa00330
Histidine metabolismKEGGhsa00340
Tryptophan metabolismKEGGhsa00380
Metabolic pathwaysKEGGhsa01100
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
197648172009Structure and inhibition of human diamine oxidase.27
197019722009Soluble intercellular adhesion molecule-1, D-lactate and diamine oxidase in patients with inflammatory bowel disease.25
176511472007Polymorphisms of histamine-metabolizing enzymes and clinical manifestations of asthma and allergic rhinitis.14
214889032011Association of single nucleotide polymorphisms in the diamine oxidase gene with diamine oxidase serum activities.14
212259062011Clinical significance of serum diamine oxidase activity in inflammatory bowel disease: Importance of evaluation of small intestinal permeability.11
179852512008Nonsynonymous polymorphisms of histamine-metabolising enzymes in patients with Parkinson's disease.8
179852512008Nonsynonymous polymorphisms of histamine-metabolising enzymes in patients with Parkinson's disease.8
177003582007Genetic variability of human diamine oxidase: occurrence of three nonsynonymous polymorphisms and study of their effect on serum enzyme activity.7
177003582007Genetic variability of human diamine oxidase: occurrence of three nonsynonymous polymorphisms and study of their effect on serum enzyme activity.7
224332902012Plasma 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.7

Citation

Dessen P

AOC1 (amine oxidase copper containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-07-01

Online version: http://atlasgeneticsoncology.org/gene/53470/aoc1