Property Summary

NCBI Gene PubMed Count 85
PubMed Score 216.91
PubTator Score 224.87

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
osteosarcoma -3.598 6.1e-04
colon cancer -1.500 5.2e-06
lung cancer -2.300 5.3e-05
Breast cancer -3.800 2.2e-02
interstitial cystitis 2.500 5.6e-03
mucosa-associated lymphoid tissue lympho... 1.516 1.8e-02
psoriasis -1.100 7.3e-04

Protein-protein Interaction (2)

Gene RIF (68)

PMID Text
26529652 AMPD1 34C>T variant is associated with higher infection susceptibility to community acquired pneumonia but not to ventilator associated pneumonia in sepsis pateints
26439223 AMPD1 could have a profound influence on cholinergic neurotransmission and sleep; further studies are mandatory
25665401 The best response to creatine in terms of physical performance was presented by AMPD1 CC genotype.
25155876 Mutational variants in AMPD1 contribute to autism risk in Han Chinese population, via mitochondria dysfunction and cell necrosis.
24508110 The present study demonstrated a positive effect of C34T AMPD1 gene polymorphism in aortic stiffness and in inflammatory status in a high risk population of CAD subjects.
24431031 Our other studies on the metabolic impact of AMPD1 C34T mutation revealed decrease in AMPD activity.
24058088 Alpinists show significantly higher frequencies of T allele compared to controls.
23486588 AMPD1 gene polymorphism C34T can be considered as a marker of liability to the high-speed and strength muscular activity.
22324844 In a study of a Spanish and 2 North African cohorts, frequency of the AMPD1 C34T mutation was lower in Berbers compared with the Alpujarra cohort. The GDF8 K153R substitution showed little variability among the three cohorts.
22105616 The researchers found evidence that the T allele polymorphism of the AMPD1 gene is associated with negative factor in athletic performance
22017426 There was a lower frequency of the AMPD1 exon 2 T34 allele in elite Polish power-oriented athletes. The data suggested that the C allele may help athletes to attain elite status in power-oriented sports.
21108053 AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.
20952631 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20544536 some physico-chemical properties of AMP-deaminase isolated from cardiac muscle of a 10-year-old boy heterozygote for this mutation
20044476 Observational study of gene-disease association. (HuGE Navigator)
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19902562 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19845893 Observational study of gene-disease association. (HuGE Navigator)
19427446 Possession of AMPD1 T allele is associated with decreased inotropic requirements before heart donation. Incidence of graft dysfunction was significantly higher in recipients who received AMPD1 T-allele-possessing organs resulting in worse 1-year survival.
19427446 Observational study of gene-disease association. (HuGE Navigator)
19422651 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19353846 Observational study of gene-disease association. (HuGE Navigator)
19277943 We found statistical significance for ACE ID and II genotypes in soccer players than in runners; Statistical significance was also reached for AMPD1 (with higher frequency of CT genotype in soccer players than in runners [chi(2)((2))=7.538, P=0.006])
19277943 Observational study of gene-disease association. (HuGE Navigator)
19237423 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18855224 C34T AMPD1 polymorphism may be associated with reduced frequency of obesity in coronary artery disease(CAD) patients and of hyperglycaemia and diabetes in both CAD and heart failure patients.
18855224 Observational study of gene-disease association. (HuGE Navigator)
18801770 Observational study of gene-disease association. (HuGE Navigator)
18493842 This is a first report evidencing the pattern of AMPD genes expression in neoplastic human liver.
18409530 may control the systemic metabolic status by changing AMPK activity through the AMP level.
18338202 Observational study of gene-disease association. (HuGE Navigator)
18224333 Results suggest a better circulatory adaptation to exercise in individuals with diminished AMPD1 activity, probably due to an AMPD1 genotype-dependent increase in adenosine formation.
17687759 Observational study of gene-disease association. (HuGE Navigator)
17630210 Observational study of gene-disease association. (HuGE Navigator)
17565237 Observational study of gene-disease association. (HuGE Navigator)
17565237 C34T and G468T variations in the adenosine monophosphate deaminase-1 (AMPD1) gene were associated with intima-media thickness of the carotid and brachial artery, endothelial function of the brachial artery in patients with coronary heart disease.
17530705 Observational study of gene-disease association, pharmacogenomic / toxicogenomic, and genetic testing. (HuGE Navigator)
17463303 Reveals a functional role for skeletal muscle AMPD1 enzyme in sprint exercise.
17376785 The 34C > T variant of AMPD1 augments vasodilation and reduces tissue injury in response to forearm ischaemia. These mechanisms could contribute to the survival benefit of cardiovascular patients with this variant allele.
16996850 Observational study of gene-disease association. (HuGE Navigator)
16996850 We did not demonstrate any effect of the C34T polymorphism of the AMPD1 gene on major congestive heart failure parameters and on survival.
16947783 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16947783 Genes are associated with good clinical response of rheumatoid arthritis to methotrexate treatment.
16875916 Observational study of gene-disease association. (HuGE Navigator)
16767606 Observational study of gene-disease association. (HuGE Navigator)
16707139 Observational study of gene-disease association. (HuGE Navigator)
16671104 Observational study of gene-disease association. (HuGE Navigator)
16570231 The interpretation of the significance of these observations suggests a physiological mutual dependence between skeletal muscle HPRG and AMPD polypeptides with regard to their stability.
16360962 Observational study of gene-disease association. (HuGE Navigator)
16021918 the AMPD1 mutation decreases the activity of AMP-deaminase in the heart without changing the activity of any other enzymes of adenine nucleotide metabolism
16021915 Observational study of gene-disease association. (HuGE Navigator)
16021915 a C34T mutation in AMP deaminase is found more frequently in healthy donor hearts than in healthy controls or donors with failing hearts
15882662 Observational study of gene-disease association. (HuGE Navigator)
15793265 Observational study of gene-disease association. (HuGE Navigator)
15793265 In this study, the metabolic clearance rate of insulin was associated with AMPD1 SNPs and haplotypes.
15677729 Observational study of gene-disease association. (HuGE Navigator)
15677729 In conclusion, although the frequency distribution of the mutant T allele of the AMPD1 genotype is lower in Caucasian elite endurance athletes than in controls, the C34T mutation does not significantly impair endurance performance.
15368811 Primary myoadenylate-deaminase deficiency was diagnosed based upon elevated creatine-kinase, absent staining for MAD on muscle biopsy, markedly reduced MAD activity in the muscle homogenate, and C34T mutation within exon 2 of AMPD1 gene.
15309698 Observational study of gene-disease association. (HuGE Navigator)
15309698 The AMPD1 C34T polymorphism influences transplant-free cardiovascular survival in the setting of ischemic left ventricular dysfunction.
15239633 Observational study of gene-disease association. (HuGE Navigator)
15239633 Significantly higher frequency of mutation among donors with healthy hearts used for transplantation. Lower frequency in dysfunctional donor hearts. Frequency of C34T mutation in chronic heart failure was not different. (Review)
15135700 Observational study of gene-disease association. (HuGE Navigator)
12783984 Observational study of gene-disease association. (HuGE Navigator)
12117480 A G468T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.
11028479 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MNVRIFYSVSQSPHSLLSLLFYCAILESRISATMPLFKLPAEEKQIDDAMRNFAEKVFASEVKDEGGRQE      1 - 70
ISPFDVDEICPISHHEMQAHIFHLETLSTSTEARRKKRFQGRKTVNLSIPLSETSSTKLSHIDEYISSSP     71 - 140
TYQTVPDFQRVQITGDYASGVTVEDFEIVCKGLYRALCIREKYMQKSFQRFPKTPSKYLRNIDGEAWVAN    141 - 210
ESFYPVFTPPVKKGEDPFRTDNLPENLGYHLKMKDGVVYVYPNEAAVSKDEPKPLPYPNLDTFLDDMNFL    211 - 280
LALIAQGPVKTYTHRRLKFLSSKFQVHQMLNEMDELKELKNNPHRDFYNCRKVDTHIHAAACMNQKHLLR    281 - 350
FIKKSYQIDADRVVYSTKEKNLTLKELFAKLKMHPYDLTVDSLDVHAGRQTFQRFDKFNDKYNPVGASEL    351 - 420
RDLYLKTDNYINGEYFATIIKEVGADLVEAKYQHAEPRLSIYGRSPDEWSKLSSWFVCNRIHCPNMTWMI    421 - 490
QVPRIYDVFRSKNFLPHFGKMLENIFMPVFEATINPQADPELSVFLKHITGFDSVDDESKHSGHMFSSKS    491 - 560
PKPQEWTLEKNPSYTYYAYYMYANIMVLNSLRKERGMNTFLFRPHCGEAGALTHLMTAFMIADDISHGLN    561 - 630
LKKSPVLQYLFFLAQIPIAMSPLSNNSLFLEYAKNPFLDFLQKGLMISLSTDDPMQFHFTKEPLMEEYAI    631 - 700
AAQVFKLSTCDMCEVARNSVLQCGISHEEKVKFLGDNYLEEGPAGNDIRRTNVAQIRMAYRYETWCYELN    701 - 770
LIAEGLKSTE                                                                771 - 780
//

Text Mined References (86)

PMID Year Title
26529652 2015 Effects of the 34C>T Variant of the AMPD1 Gene on Immune Function, Multi-Organ Dysfunction, and Mortality in Sepsis Patients.
26439223 2016 Possible influence of AMPD1 on cholinergic neurotransmission and sleep.
25665401 2014 Effect of creatine supplementation on physical performance are related to the AMPD1 and PPARG genes polymorphisms in football players.
25155876 2015 AMPD1 functional variants associated with autism in Han Chinese population.
24508110 2014 The impact of AMPD1 gene polymorphism on vascular function and inflammation in patients with coronary artery disease.
24431031 2014 AMP deaminase 1 gene polymorphism and heart disease-a genetic association that highlights new treatment.
24189344 2014 Common genetic variants on 1p13.2 associate with risk of autism.
24058088 2013 Performance enhancing genetic variants, oxygen uptake, heart rate, blood pressure and body mass index of elite high altitude mountaineers.
23486588 2013 Effect of AMPD1 gene polymorphism on muscle activity in humans.
22324844 2012 Polymorphisms influencing muscle phenotypes in North-African and Spanish populations.
22105616 2011 Is the C34T polymorphism of the AMPD1 gene associated with athlete performance in rowing?
22017426 2012 Distribution of the AMPD1 C34T polymorphism in Polish power-oriented athletes.
21108053 2011 AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.
20952631 2010 Association of single-nucleotide polymorphisms from 17 candidate genes with baseline symptom-limited exercise test duration and decrease in duration over 20 years: the Coronary Artery Risk Development in Young Adults (CARDIA) fitness study.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20544536 2010 Cardiac muscle AMP-deaminase from a 10-year-old male heterozygous for the AMPD1 C34T mutation.
20044476 2010 Associations of polymorphisms of eight muscle- or metabolism-related genes with performance in Mount Olympus marathon runners.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19902562 2009 Purine biosynthetic pathway genes and methotrexate response in rheumatoid arthritis patients among north Indians.
19845893 2009 Plasma concentrations of TNF-alpha and its soluble receptors sTNFR1 and sTNFR2 in patients with coronary artery disease.
19427446 2009 Effect of adenosine monophosphate deaminase-1 C34T allele on the requirement for donor inotropic support and on the incidence of early graft dysfunction after cardiac transplantation.
19422651 2010 Does the polygenic profile determine the potential for becoming a world-class athlete? Insights from the sport of rowing.
19353846 Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.
19277943 2009 Genotype distributions in top-level soccer players: a role for ACE?
19237423 2009 Is there an optimum endurance polygenic profile?
18855224 2009 Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure.
18801770 2010 World-class performance in lightweight rowing: is it genetically influenced? A comparison with cyclists, runners and non-athletes.
18493842 2008 Expression patterns of AMP-deaminase isozymes in human hepatocellular carcinoma (HCC).
18409530 2008 [AMPD genes and urate metabolism].
18338202 2008 AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance.
18224333 2008 The effect of AMPD1 genotype on blood flow response to sprint exercise.
17687759 2008 AMPD1 genotypes and exercise capacity in McArdle patients.
17630210 2007 Genotype modulators of clinical severity in McArdle disease.
17565237 2006 Association between AMPD1 gene polymorphism and coagulation factors in patients with coronary heart disease.
17530705 2007 A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis.
17463303 2007 AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects.
17376785 2007 Augmented hyperaemia and reduced tissue injury in response to ischaemia in subjects with the 34C > T variant of the AMPD1 gene.
16996850 2006 The impact of the AMPD1 gene polymorphism on exercise capacity, other prognostic parameters, and survival in patients with stable congestive heart failure: a study in 686 consecutive patients.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16947783 2006 Relationship between genetic variants in the adenosine pathway and outcome of methotrexate treatment in patients with recent-onset rheumatoid arthritis.
16875916 2006 Evaluation of AMPD1 C34T genotype as a predictor of mortality in heart failure and post-myocardial infarction patients.
16767606 2006 Does the C34T mutation in AMPD1 alter exercise capacity in the elderly?
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16707139 2006 AMPD1 gene polymorphism and the vasodilatory response to ischemia.
16671104 2006 Genetic risk factors associated with lipid-lowering drug-induced myopathies.
16570231 2006 Immunohistochemical analysis of human skeletal muscle AMP deaminase deficiency. Evidence of a correlation between the muscle HPRG content and the level of the residual AMP deaminase activity.
16360962 2005 The role of a common adenosine monophosphate deaminase (AMPD)-1 polymorphism in outcomes of ischemic and nonischemic heart failure.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16021918 2005 AMPD1 C34T mutation selectively affects AMP-deaminase activity in the human heart.
16021915 2005 Association of improved cardiac function in donors with C34T mutation of the AMP deaminase 1 gene.
15882662 2005 AMPD1 (C34T) polymorphism and clinical outcomes in patients undergoing myocardial revascularization.
15793265 2005 Variation in the gene for muscle-specific AMP deaminase is associated with insulin clearance, a highly heritable trait.
15677729 2005 Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance?
15368811 2004 Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction.
15309698 2004 A common variant of the AMPD1 gene predicts improved survival in patients with ischemic left ventricular dysfunction.
15239633 2004 C34T AMP deaminase 1 gene mutation protects cardiac function in donors.
15173240 2004 Haplotype analysis of human AMPD1 gene: origin of common mutant allele.
15135700 2004 Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12783984 2003 Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12213808 2002 N-terminal sequence and distal histidine residues are responsible for pH-regulated cytoplasmic membrane binding of human AMP deaminase isoform E.
12117480 2002 A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.
11102975 2000 First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.
11028479 2000 A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease.
10996775 2000 Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
10086964 1999 Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure.
9880040 Elevated adenosine monophosphate deaminase activity in Alzheimer's disease brain.
9857047 1998 Novel aspects of tetramer assembly and N-terminal domain structure and function are revealed by recombinant expression of human AMP deaminase isoforms.
9730972 1998 Control of AMP deaminase 1 binding to myosin heavy chain.
9443500 1998 Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
8355716 1993 Functionally distinct elements are required for expression of the AMPD1 gene in myocytes.
8335021 1993 Myoadenylate deaminase deficiency with severe rhabdomyolysis.
7287721 1981 Platelet AMP deaminase. Purification and kinetic studies.
7201581 1982 Familial myoadenylate deaminase deficiency and exertional myalgia.
6406772 1983 Enzymological studies in chronic lymphocytic leukemia.
6167680 1981 Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy.
2502331 1989 Radioisotopic assay for erythrocyte adenosine 5'-monophosphate deaminase.
2345176 1990 Characterization of the human and rat myoadenylate deaminase genes.
1631143 1992 Molecular basis of AMP deaminase deficiency in skeletal muscle.
1429593 1992 Molecular cloning of AMP deaminase isoform L. Sequence and bacterial expression of human AMPD2 cDNA.
1400401 1992 Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons.
1370861 1992 Molecular analysis of the myoadenylate deaminase deficiencies.
644316 1978 Myoadenylate deaminase deficiency: a new disease of muscle.