AK1 Gene

HGNC Family	Adenylate kinases (AK)
Name	adenylate kinase 1
Description	This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nAdenylate kinase 1 (AK1) is a pivotal member of the adenylate kinase family that catalyzes the reversible transfer of phosphate groups between AMP, ADP, and ATP, thereby maintaining cellular energy homeostasis. This enzyme not only ensures the proper balance of adenine nucleotides for nucleic acid synthesis, coenzyme formation, and metabolic regulation but also plays a critical role in the activation of nucleoside analogue prodrugs. In addition, soluble AK1 in the circulation facilitates the interconversion of ADP into ATP and AMP, a process that is central to extracellular nucleotide cycling and may modulate platelet‐recruiting signals and vascular functions."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the central nervous system, AK1 has been implicated in neurodegenerative processes. Its expression is markedly increased upon exposure to amyloid‐β, and overexpression of AK1 exacerbates abnormal tau phosphorylation by perturbing the AMPK–GSK3β signaling cascade. This leads to enhanced tau aggregation and neurodegeneration, thereby positioning AK1 as a novel upstream modulator in Alzheimer’s disease pathology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAK1 expression also bears significant clinical implications in oncology. In lung adenocarcinoma, elevated AK1 levels are correlated with improved overall survival, suggesting a protective prognostic role. Similarly, in acute myeloid leukemia, differential expression of AK1 provides prognostic insights that may guide therapeutic decision‐making—highlighting its potential as a biomarker in cancer management."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nGenetic variability at the AK1 locus further influences reproductive and developmental outcomes. Polymorphisms in AK1 have been associated with the balance between birth weight and placental weight and may affect intrauterine selection processes that are linked to the risk of spontaneous abortion, underscoring a broader role in fetal growth and reproductive success."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn red blood cells, AK1 is essential for sustaining energy metabolism. Mutations in the AK1 gene have been identified in patients suffering from chronic nonspherocytic hemolytic anemia, with structural disruptions in the enzyme leading to profound deficiencies in red cell function and viability."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFinally, emerging studies also point to a role for AK1 in the reproductive system, with early investigations in sperm suggesting that its expression may be pertinent to normal sperm function and potentially linked to asthenospermia."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Christakis Panayiotou, Nicola Solaroli, Anna Karlsson "}, {"type": "b", "children": [{"type": "t", "text": "The many isoforms of human adenylate kinases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biochem Cell Biol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.biocel.2014.01.014"}], "href": "https://doi.org/10.1016/j.biocel.2014.01.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24495878"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24495878"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Gennady G Yegutkin, Bé Wieringa, Simon C Robson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Metabolism of circulating ADP in the bloodstream is mediated via integrated actions of soluble adenylate kinase-1 and NTPDase1/CD39 activities."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FASEB J (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1096/fj.12-205658"}], "href": "https://doi.org/10.1096/fj.12-205658"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22637533"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22637533"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "D Topalis, K Alvarez, K Barral, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Acyclic phosphonate nucleotides and human adenylate kinases: impact of a borano group on alpha-P position."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleosides Nucleotides Nucleic Acids (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/15257770801941952"}], "href": "https://doi.org/10.1080/15257770801941952"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18404568"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18404568"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Hyejin Park, Tae-In Kam, Youngdoo Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Neuropathogenic role of adenylate kinase-1 in Aβ-mediated tau phosphorylation via AMPK and GSK3β."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/dds100"}], "href": "https://doi.org/10.1093/hmg/dds100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22419736"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22419736"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yi-Hua Jan, Tsung-Ching Lai, Chih-Jen Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A co-expressed gene status of adenylate kinase 1/4 reveals prognostic gene signature associated with prognosis and sensitivity to EGFR targeted therapy in lung adenocarcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-019-48243-9"}], "href": "https://doi.org/10.1038/s41598-019-48243-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31444368"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31444368"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Tong Qin, Hongmian Zhao, Yunli Shao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "High expression of AK1 predicts inferior prognosis in acute myeloid leukemia patients undergoing chemotherapy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biosci Rep (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BSR20200097"}], "href": "https://doi.org/10.1042/BSR20200097"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32519744"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32519744"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Gloria-Bottini Fulvia, Pietroiusti Antonio, Neri Anna, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Adenylate kinase locus 1 polymorphism and feto-placental development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Obstet Gynecol Reprod Biol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejogrb.2011.07.043"}], "href": "https://doi.org/10.1016/j.ejogrb.2011.07.043"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21831515"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21831515"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Fulvia Gloria-Bottini, Maria Nicotra, Ada Amante, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Adenylate kinase genetic polymorphism and spontaneous abortion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Biol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajhb.22211"}], "href": "https://doi.org/10.1002/ajhb.22211"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22287021"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22287021"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Bernard Robaye, Esam Ghanem, Françoise Wilkin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of nucleotide regulation of epithelial chloride transport in the jejunum of P2Y4-null mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Pharmacol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1124/mol.63.4.777"}], "href": "https://doi.org/10.1124/mol.63.4.777"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12644577"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12644577"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Rashmi Dongerdiye, Pranoti Kamat, Punit Jain, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Pathol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jclinpath-2019-205718"}], "href": "https://doi.org/10.1136/jclinpath-2019-205718"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30918013"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30918013"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Han-Shu Wang, Yu Zhu, Fei Sun "}, {"type": "b", "children": [{"type": "t", "text": "[Expressions of the adenylate kinase family in asthenospermia]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Nan Ke Xue (2019)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32251557"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32251557"}]}]}]}
Synonyms	HTL-S-58J
Proteins	KAD1_HUMAN
NCBI Gene ID	203
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

AK1 has 8,196 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 123 datasets.

Click the + buttons to view associations for AK1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

AK1 Gene

Functional Associations

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

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by AK1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of AK1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of AK1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of AK1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of AK1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of AK1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of AK1 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 AK1 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 AK1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of AK1 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 AK1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with AK1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with AK1 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 AK1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of AK1 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 AK1 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 AK1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of AK1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing AK1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing AK1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with AK1 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 AK1 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 AK1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with AK1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with AK1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with AK1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of AK1 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 AK1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving AK1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving AK1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with AK1 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 AK1 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 AK1 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 AK1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with AK1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for AK1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at AK1 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 AK1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of AK1 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 AK1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.