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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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AK1
adenylate kinase 1
Chromosome 9 Β· 9q34.11
NCBI Gene: 203Ensembl: ENSG00000106992.19HGNC: HGNC:361UniProt: P00568
71PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
AMP kinase activitynucleoside diphosphate kinase activityextracellular exosomecytosolhemolytic anemia due to adenylate kinase deficiencymyeloid leukemiaacute myeloid leukemialung adenocarcinoma
✦AI Summary

AK1 (adenylate kinase 1) is a phosphotransferase that catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP, producing two ADP molecules 1. The enzyme also displays broad nucleoside diphosphate kinase activity and plays a critical role in cellular energy homeostasis and adenine nucleotide metabolism 2. AK1 belongs to a family of nine human adenylate kinase isoenzymes that regulate adenine nucleotide ratios in different intracellular compartments 2. The enzyme contains a central CORE region, nucleoside monophosphate and triphosphate binding domains, and a LID domain, with substrate specificity primarily for AMP and ATP 3. Clinically, AK1 has significant disease relevance. High AK1 expression predicts inferior prognosis in acute myeloid leukemia (AML) patients undergoing chemotherapy, suggesting it functions as an independent unfavorable prognostic factor 4. During colorectal polyp formation, AK1 downregulation correlates with metabolic reprogramming and appears relevant to colorectal cancer development 5. AK1 dysregulation has also been implicated in hemolytic anemia and other metabolic disorders 3. Recent studies identify dinucleoside polyphosphates as potential AK1 inhibitors, with some compounds showing IC50 values below 1 Β΅M, suggesting therapeutic development opportunities 1. These findings support AK1's potential as both a diagnostic biomarker and therapeutic target for malignancies and metabolic diseases.

Sources cited
1
AK1 catalyzes reversible phosphate transfer between ATP and AMP; identified as disease modifier and potential therapeutic target; dinucleoside polyphosphates inhibit AK1 with potent IC50 values
PMID: 38744169
2
AK1 is one of nine adenylate kinase isoenzymes in humans; regulates adenine nucleotide ratios; displays nucleoside diphosphate kinase activity
PMID: 24495878
3
AK1 contains CORE region, NMPbd, NTPbd, and LID domains; involved in nucleotide homeostasis; implicated in hemolytic anemia and other pathological conditions
PMID: 26400880
4
High AK1 expression predicts inferior prognosis in AML patients undergoing chemotherapy; serves as independent unfavorable prognostic factor
PMID: 32519744
5
AK1 downregulation occurs during colorectal polyp formation and correlates with metabolic reprogramming in colorectal cancer development
PMID: 37342183
Disease Associationsβ“˜21
hemolytic anemia due to adenylate kinase deficiencyOpen Targets
0.76Strong
myeloid leukemiaOpen Targets
0.16Weak
acute myeloid leukemiaOpen Targets
0.05Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
alcohol drinkingOpen Targets
0.04Suggestive
ocular hypotensionOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
ThalassemiaOpen Targets
0.02Suggestive
nasopharyngeal carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
papillary thyroid carcinomaOpen Targets
0.02Suggestive
acute lung injuryOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
colon carcinomaOpen Targets
0.01Suggestive
tauopathyOpen Targets
0.01Suggestive
anemia, nonspherocytic hemolyticOpen Targets
0.01Suggestive
chronic myelogenous leukemiaOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
Anemia, congenital, non-spherocytic hemolytic, 3UniProt
Pathogenic Variants11
NM_000476.3(AK1):c.319C>T (p.Arg107Ter)Likely pathogenic
Hemolytic anemia due to adenylate kinase deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 107
NM_000476.3(AK1):c.166A>T (p.Lys56Ter)Likely pathogenic
Hemolytic anemia due to adenylate kinase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 56
NM_000476.3(AK1):c.44-5_48delinsCLikely pathogenic
Hemolytic anemia due to adenylate kinase deficiency
β˜…β˜†β˜†β˜†2023
NM_000476.3(AK1):c.395G>A (p.Arg132His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 132
NM_000476.3(AK1):c.301C>A (p.Gln101Lys)Pathogenic
Hemolytic anemia due to adenylate kinase deficiency|Adenylate kinase deficiency
β˜…β˜†β˜†β˜†2021β†’ Residue 101
NM_000476.3(AK1):c.139del (p.Val47fs)Pathogenic
Hemolytic anemia due to adenylate kinase deficiency
β˜†β˜†β˜†β˜†2004β†’ Residue 47
NM_000476.3(AK1):c.118G>A (p.Gly40Arg)Pathogenic
Hemolytic anemia due to adenylate kinase deficiency
β˜†β˜†β˜†β˜†2003β†’ Residue 40
NM_000476.3(AK1):c.190G>A (p.Gly64Arg)Pathogenic
Hemolytic anemia due to adenylate kinase deficiency
β˜†β˜†β˜†β˜†2003β†’ Residue 64
NM_000476.3(AK1):c.418GAC[1] (p.Asp141del)Pathogenic
Hemolytic anemia due to adenylate kinase deficiency
β˜†β˜†β˜†β˜†2003β†’ Residue 141
NM_000476.3(AK1):c.491A>G (p.Tyr164Cys)Pathogenic
Hemolytic anemia due to adenylate kinase deficiency|Hepatocellular carcinoma
β˜†β˜†β˜†β˜†1997β†’ Residue 164
NM_000476.3(AK1):c.382C>T (p.Arg128Trp)Pathogenic
Hemolytic anemia due to adenylate kinase deficiency
β˜†β˜†β˜†β˜†1989β†’ Residue 128
View on ClinVar β†—
Related Genes
NME1Protein interaction99%ADSLProtein interaction97%NME2Protein interaction97%ADKProtein interaction97%APRTProtein interaction97%NME1-NME2Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Lung
53%
Brain
47%
Ovary
47%
Liver
42%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
AK1NME1ADSLNME2ADKAPRTNME1-NME2
PROTEIN STRUCTURE
Preparing viewer…
PDB2C95 Β· 1.71 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.55 [0.36–0.87]
RankingsWhere AK1 stands among ~20K protein-coding genes
  • #6,607of 20,598
    Most Researched71
  • #2,765of 5,498
    Most Pathogenic Variants11
  • #7,710of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedAK1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Synthesis, kinetic studies, and QSAR of dinucleoside polyphosphate derivatives as human AK1 inhibitors.
PMID: 38744169
Bioorg Chem Β· 2024
1.00
2
Sirtuins: Research advances on the therapeutic role in acute kidney injury.
PMID: 35490494
Phytomedicine Β· 2022
0.90
3
High expression of AK1 predicts inferior prognosis in acute myeloid leukemia patients undergoing chemotherapy.
PMID: 32519744
Biosci Rep Β· 2020
0.80
4
Colorectal polyps increase the glycolytic activity.
PMID: 37342183
Front Oncol Β· 2023
0.70
5
The many isoforms of human adenylate kinases.
PMID: 24495878
Int J Biochem Cell Biol Β· 2014
0.60