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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AK3
adenylate kinase 3
Chromosome 9 · 9p24.1
NCBI Gene: 50808Ensembl: ENSG00000147853.18HGNC: HGNC:17376UniProt: Q7Z4Y4
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
AMP metabolic processITP metabolic processUTP metabolic processprotein bindingneurodegenerative diseasehemorrhagic diseaseliver diseasethrombocytopenia 4
✦AI Summary

AK3 (adenylate kinase 3) is a mitochondrial enzyme that catalyzes nucleotide phosphoryl transfer reactions, specifically functioning as a GTP:AMP phosphotransferase and potentially using ITP as a phosphate donor 12. The enzyme is localized to the mitochondrial matrix and serves as a housekeeping gene expressed in all tissues except red blood cells 3. AK3 plays a crucial role in cellular energy metabolism by contributing to adenine nucleotide homeostasis and supporting high-energy phosphate transfer within mitochondrial compartments 3. The gene is mapped to chromosome 9, with multiple genomic loci including a processed pseudogene located within an intron of the NF1 gene on chromosome 9 4. Clinical relevance includes its involvement in 9p deletion syndromes, where AK3 is identified as one of 24 important genes affecting the majority of patients with this chr9 disorder 5. Additionally, AK3 demonstrates gene dosage effects in cases of 9p trisomy 6. In cancer research, AK3 has been identified as a target of miR-96-5p in breast cancer, where reduced AK3 expression correlates with decreased patient survival and increased cancer cell migration 7.

Sources cited
1
AK3 has GTP:AMP phosphotransferase activity and can use ITP as phosphate donor
PMID: 11485571
2
Confirms AK3's GTP:AMP phosphotransferase activity
PMID: 32822537
3
AK3 is mitochondrial matrix protein, housekeeping gene expressed in all tissues except RBCs, contributes to nucleotide homeostasis
PMID: 16167529
4
AK3 cDNA characterization and pseudogene mapping to NF1 intron
PMID: 1639383
5
Regional assignment of AK3 to chromosome 9p
PMID: 219990
6
AK3 identified as important gene in 9p deletion syndrome affecting 83% of patients
PMID: 40196253
7
Gene dosage effects for AK3 demonstrated in 9p trisomy
PMID: 6303943
8
AK3 is target of miR-96-5p in breast cancer, reduced expression correlates with poor survival
PMID: 32196830
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.39Weak
hemorrhagic diseaseOpen Targets
0.32Weak
liver diseaseOpen Targets
0.31Weak
thrombocytopenia 4Open Targets
0.31Weak
brain aneurysmOpen Targets
0.28Weak
multinodular goiterOpen Targets
0.27Weak
renal osteodystrophyOpen Targets
0.24Weak
type 2 diabetes mellitusOpen Targets
0.04Suggestive
retinopathyOpen Targets
0.04Suggestive
osteoarthritis, hipOpen Targets
0.04Suggestive
type 1 diabetes mellitusOpen Targets
0.04Suggestive
hypothyroidismOpen Targets
0.03Suggestive
Knee painOpen Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
lumbar disc herniationOpen Targets
0.03Suggestive
gestational diabetesOpen Targets
0.03Suggestive
osteoarthritis, kneeOpen Targets
0.03Suggestive
ThrombocytopeniaOpen Targets
0.03Suggestive
total joint arthroplastyOpen Targets
0.03Suggestive
Palmar FibromatosisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BRD10Co-mentioned in literature100%ZNG1ACo-mentioned in literature100%DGUOKProtein interaction98%NME1-NME2Protein interaction96%PKMProtein interaction95%NTPCRProtein interaction95%
Tissue Expression6 tissues
Heart
100%
Liver
75%
Brain
41%
Ovary
34%
Lung
25%
Bone Marrow
15%
Gene Interaction Network
Click a node to explore
AK3BRD10ZNG1ADGUOKNME1-NME2PKMNTPCR
PROTEIN STRUCTURE
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PDB1ZD8 · 1.48 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.60LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.15 [0.84–1.60]
RankingsWhere AK3 stands among ~20K protein-coding genes
  • #8,639of 20,598
    Most Researched51
  • #15,675of 17,882
    Most Constrained (LOEUF)1.60
Genes detectedAK3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Gene therapy: Comprehensive overview and therapeutic applications.
PMID: 35123997
Life Sci · 2022
1.00
2
Doxorubicin-induced cardiotoxicity: An update on the molecular mechanism and novel therapeutic strategies for effective management.
PMID: 34243633
Biomed Pharmacother · 2021
0.90
3
Characterization of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene.
PMID: 1639383
Genomics · 1992
0.80
4
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes.
PMID: 40196253
medRxiv · 2025
0.70
5
Regional asssignments of the loci AK3, ACONS, and ASS on human chromosome 9.
PMID: 219990
Cytogenet Cell Genet · 1979
0.60