AMPD1 (adenosine monophosphate deaminase 1)

2006-10-01 Affiliation

Identity

HGNC

AMPD1

LOCATION

1p13.2

LOCUSID

270

ALIAS

MAD,MADA,MMDD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000116748	ENST00000369538	P23109
ENSG00000116748	ENST00000520113	P23109
ENSG00000116748	ENST00000637080	A0A1B0GTL6

Expression (GTEx)

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

Pathway	Source	External ID
Purine metabolism	KEGG	ko00230
Purine metabolism	KEGG	hsa00230
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Metabolism of nucleotides	REACTOME	R-HSA-15869
Purine metabolism	REACTOME	R-HSA-73847
Purine salvage	REACTOME	R-HSA-74217

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA166129536	regadenoson	Chemical	ClinicalAnnotation	associated	PD	26554440
PA443434	Arthritis, Rheumatoid	Disease	ClinicalAnnotation	associated	PD	16947783, 20386493, 27217051, 27992285, 29520081
PA450428	methotrexate	Chemical	ClinicalAnnotation	associated	PD	16947783, 20386493, 27217051, 27992285, 29520081

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
17530705	2007	A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis.	47
16671104	2006	Genetic risk factors associated with lipid-lowering drug-induced myopathies.	45
16947783	2006	Relationship between genetic variants in the adenosine pathway and outcome of methotrexate treatment in patients with recent-onset rheumatoid arthritis.	27
16947783	2006	Relationship between genetic variants in the adenosine pathway and outcome of methotrexate treatment in patients with recent-onset rheumatoid arthritis.	27
19237423	2009	Is there an optimum endurance polygenic profile?	26
15793265	2005	Variation in the gene for muscle-specific AMP deaminase is associated with insulin clearance, a highly heritable trait.	22
15793265	2005	Variation in the gene for muscle-specific AMP deaminase is associated with insulin clearance, a highly heritable trait.	22
18801770	2010	World-class performance in lightweight rowing: is it genetically influenced? A comparison with cyclists, runners and non-athletes.	18
19845893	2009	Plasma concentrations of TNF-alpha and its soluble receptors sTNFR1 and sTNFR2 in patients with coronary artery disease.	15

Citation

Dessen P

AMPD1 (adenosine monophosphate deaminase 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43118/ampd1