AMPD1 Gene

Name	adenosine monophosphate deaminase 1
Description	Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n AMP deaminase 1 (AMPD1) is a skeletal muscle‐specific enzyme that catalyzes the deamination of adenosine monophosphate (AMP) to inosine monophosphate (IMP), a critical step in purine nucleotide metabolism and energy homeostasis. Genetic variants in AMPD1—most notably the common C34T mutation that yields a truncated, inactive protein—have been implicated in a diverse array of physiological and clinical phenotypes. In the exercise setting, deficient AMPD1 activity has been associated with reduced high‐intensity performance, as shown by lower mean power output and a more rapid decline in power during sprint tests, while concomitantly favoring circulatory adaptations; increased AMP levels enhance adenosine production, which in turn promotes post‐exercise vasodilation and improved hyperemic responses."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " In athletic populations, a lower prevalence of the deleterious T allele has been observed among elite power and endurance athletes, suggesting that intact AMPD1 function confers a performance advantage."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In cardiovascular disease, paradoxically, carriers of the dysfunctional AMPD1 allele may benefit from increased adenosine availability; such a mechanism has been proposed to underlie improved outcomes in patients with coronary artery disease and heart failure, as enhanced vasodilation and cardioprotection during ischemic events are observed."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "9"}]}, {"type": "t", "text": " Furthermore, AMPD1 influences metabolic regulation; studies have demonstrated that reduced enzyme activity leads to higher intracellular AMP, thereby activating AMP‐activated protein kinase and ultimately improving insulin sensitivity and glucose clearance, which raises the possibility of targeting AMPD1 in insulin resistance and type 2 diabetes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "12"}]}, {"type": "t", "text": " Additionally, in muscular disorders such as inflammatory myositis and metabolic myopathies (e.g., McArdle disease), not only do acquired reductions in AMPD1 expression correlate with muscle weakness and altered fiber characteristics, but the genetic deficiency itself may further impair energy metabolism."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "13", "end_ref": "15"}]}, {"type": "t", "text": " Collectively, these findings underscore the multifaceted role of AMPD1 in modulating energy metabolism, exercise performance, cardiovascular protection, and metabolic regulation. Genetic variability in AMPD1 thus holds significant implications for personalized medicine across athletic, cardiovascular, and metabolic health disciplines"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "16"}]}, {"type": "t", "text": "–."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "J Rico-Sanz, T Rankinen, D R Joanisse, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Physiol Genomics (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/physiolgenomics.00165.2002"}], "href": "https://doi.org/10.1152/physiolgenomics.00165.2002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12783984"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12783984"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Heléne Fischer, Mona Esbjörnsson, Richard L Sabina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "AMP deaminase deficiency is associated with lower sprint cycling performance in healthy subjects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Appl Physiol (1985) (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/japplphysiol.00185.2007"}], "href": "https://doi.org/10.1152/japplphysiol.00185.2007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17463303"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17463303"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Barbara Norman, Anders T Nygren, Jacek Nowak, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The effect of AMPD1 genotype on blood flow response to sprint exercise."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Appl Physiol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00421-008-0683-0"}], "href": "https://doi.org/10.1007/s00421-008-0683-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18224333"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18224333"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Nir Eynon, Erik D Hanson, Alejandro Lucia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genes for elite power and sprint performance: ACTN3 leads the way."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sports Med (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s40279-013-0059-4"}], "href": "https://doi.org/10.1007/s40279-013-0059-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23681449"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23681449"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "O N Fedotovskaya, A A Danilova, I I Akhmetov "}, {"type": "b", "children": [{"type": "t", "text": "Effect of AMPD1 gene polymorphism on muscle activity in humans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Bull Exp Biol Med (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10517-013-1984-9"}], "href": "https://doi.org/10.1007/s10517-013-1984-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23486588"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23486588"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "J L Anderson, J Habashi, J F Carlquist, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Am Coll Cardiol (2000)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0735-1097(00)00850-0"}], "href": "https://doi.org/10.1016/s0735-1097(00"}, {"type": "t", "text": "00850-0) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11028479"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11028479"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Niels P Riksen, Barbara Franke, Wim J G Oyen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Augmented hyperaemia and reduced tissue injury in response to ischaemia in subjects with the 34C > T variant of the AMPD1 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur Heart J (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/eurheartj/ehm032"}], "href": "https://doi.org/10.1093/eurheartj/ehm032"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17376785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17376785"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yoshikazu Yazaki, Joseph B Muhlestein, John F Carlquist, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A common variant of the AMPD1 gene predicts improved survival in patients with ischemic left ventricular dysfunction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Card Fail (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cardfail.2003.10.008"}], "href": "https://doi.org/10.1016/j.cardfail.2003.10.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15309698"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15309698"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Anja Gastmann, Holger H Sigusch, Andreas Henke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Cardiol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.amjcard.2004.02.011"}], "href": "https://doi.org/10.1016/j.amjcard.2004.02.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15135700"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15135700"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Mark O Goodarzi, Kent D Taylor, Xiuqing Guo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variation in the gene for muscle-specific AMP deaminase is associated with insulin clearance, a highly heritable trait."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetes (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2337/diabetes.54.4.1222"}], "href": "https://doi.org/10.2337/diabetes.54.4.1222"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15793265"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15793265"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Jidong Cheng, Hiroko Morisaki, Keiko Toyama, et al. "}, {"type": "b", "children": [{"type": "t", "text": "AMPD1: a novel therapeutic target for reversing insulin resistance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Endocr Disord (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1472-6823-14-96"}], "href": "https://doi.org/10.1186/1472-6823-14-96"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25511531"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25511531"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Krzysztof Safranow, Edyta Czyzycka, Agnieszka Binczak-Kuleta, et al. 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Synonyms	MADA, MAD, MMDD
Proteins	AMPD1_HUMAN
NCBI Gene ID	270
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

AMPD1 has 4,538 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 112 datasets.

Click the + buttons to view associations for AMPD1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

AMPD1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of AMPD1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of AMPD1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of AMPD1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of AMPD1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of AMPD1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of AMPD1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of AMPD1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of AMPD1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of AMPD1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with AMPD1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of AMPD1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of AMPD1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of AMPD1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with AMPD1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with AMPD1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of AMPD1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing AMPD1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with AMPD1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with AMPD1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of AMPD1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with AMPD1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with AMPD1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with AMPD1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of AMPD1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by AMPD1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving AMPD1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with AMPD1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with AMPD1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with AMPD1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with AMPD1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with AMPD1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for AMPD1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at AMPD1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of AMPD1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of AMPD1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing AMPD1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with AMPD1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with AMPD1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of AMPD1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with AMPD1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.