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)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | 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 |
|---|---|---|---|
| 31880188 | 2020 | Ultrastructural Localization of Histidine-rich Glycoprotein in Skeletal Muscle Fibers: Colocalization With AMP Deaminase. | 4 |
| 32429460 | 2020 | AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females. | 1 |
| 31880188 | 2020 | Ultrastructural Localization of Histidine-rich Glycoprotein in Skeletal Muscle Fibers: Colocalization With AMP Deaminase. | 4 |
| 32429460 | 2020 | AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females. | 1 |
| 28673246 | 2017 | Effects of AMPD1 gene C34T polymorphism on cardiac index, blood pressure and prognosis in patients with cardiovascular diseases: a meta-analysis. | 6 |
| 29095874 | 2017 | Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency. | 4 |
| 28673246 | 2017 | Effects of AMPD1 gene C34T polymorphism on cardiac index, blood pressure and prognosis in patients with cardiovascular diseases: a meta-analysis. | 6 |
| 29095874 | 2017 | Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency. | 4 |
| 26439223 | 2016 | Possible influence of AMPD1 on cholinergic neurotransmission and sleep. | 0 |
| 27323204 | 2016 | Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients. | 3 |
| 27525900 | 2016 | Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome. | 3 |
| 26439223 | 2016 | Possible influence of AMPD1 on cholinergic neurotransmission and sleep. | 0 |
| 27323204 | 2016 | Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients. | 3 |
| 27525900 | 2016 | Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome. | 3 |
| 25155876 | 2015 | AMPD1 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)
