AMPD1 (adenosine monophosphate deaminase 1)

2006-10-01  

Identity

HGNC
AMPD1
LOCATION
1p13.2
LOCUSID
270
ALIAS
MAD,MADA,MMDD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 270
MIM: 102770
HGNC: 468
Ensembl: ENSG00000116748

Variants:

dbSNP: 270
ClinVar: 270
TCGA: ENSG00000116748
COSMIC: AMPD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116748ENST00000369538P23109
ENSG00000116748ENST00000520113P23109
ENSG00000116748ENST00000637080A0A1B0GTL6

Expression (GTEx)

0
50
100
150
200
250
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
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine salvageREACTOMER-HSA-74217

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166129536regadenosonChemicalClinicalAnnotationassociatedPD26554440
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD16947783, 20386493, 27217051, 27992285, 29520081
PA450428methotrexateChemicalClinicalAnnotationassociatedPD16947783, 20386493, 27217051, 27992285, 29520081

References

Pubmed IDYearTitleCitations
318801882020Ultrastructural Localization of Histidine-rich Glycoprotein in Skeletal Muscle Fibers: Colocalization With AMP Deaminase.4
324294602020AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females.1
318801882020Ultrastructural Localization of Histidine-rich Glycoprotein in Skeletal Muscle Fibers: Colocalization With AMP Deaminase.4
324294602020AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females.1
286732462017Effects of AMPD1 gene C34T polymorphism on cardiac index, blood pressure and prognosis in patients with cardiovascular diseases: a meta-analysis.6
290958742017Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.4
286732462017Effects of AMPD1 gene C34T polymorphism on cardiac index, blood pressure and prognosis in patients with cardiovascular diseases: a meta-analysis.6
290958742017Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.4
264392232016Possible influence of AMPD1 on cholinergic neurotransmission and sleep.0
273232042016Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients.3
275259002016Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.3
264392232016Possible influence of AMPD1 on cholinergic neurotransmission and sleep.0
273232042016Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients.3
275259002016Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.3
251558762015AMPD1 functional variants associated with autism in Han Chinese population.4

Citation

Dessen P

AMPD1 (adenosine monophosphate deaminase 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43118/ampd1-(adenosine-monophosphate-deaminase-1)