Property Summary

NCBI Gene PubMed Count 85
Grant Count 24
R01 Count 14
Funding $1,199,301.74
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 0.001
colon cancer -1.500 0.000
lung cancer -2.300 0.000
Breast cancer -3.800 0.022
interstitial cystitis 2.500 0.006
mucosa-associated lymphoid tissue lympho... 1.516 0.018
psoriasis -1.100 0.001

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
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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.
More...