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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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GUK1
guanylate kinase 1
Chromosome 1 Β· 1q42.13
NCBI Gene: 2987Ensembl: ENSG00000143774.19HGNC: HGNC:4693UniProt: Q16774
34PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneKinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
purine nucleotide metabolic processdGDP biosynthetic processxenobiotic metabolic processmitochondrionneurodegenerative diseasemitochondrial dna depletion syndrome 21transient myeloproliferative syndromepulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
✦AI Summary

GUK1 (guanylate kinase 1) catalyzes phosphorylation of GMP to GDP, serving as an essential enzyme in guanine nucleotide metabolism 1. The gene encodes two isoforms: a mitochondrial long form and a cytosolic short form 2. In photoreceptors, GUK1 participates in cGMP recycling and regeneration 1, while it also regulates cellular guanosine triphosphate (GTP) pools critical for MAPK signaling 3. Clinically, GUK1 deficiency causes mitochondrial DNA depletion syndrome (MDDS), characterized by ptosis, ophthalmoparesis, proximal weakness, and variable hepatopathy 2. The mitochondrial isoform maintains dNTP pools essential for mtDNA replication, while the cytosolic form affects T-lymphocyte function 2. Notably, pharmacological interventions with deoxyguanosine and forodesine can ameliorate mtDNA depletion, offering therapeutic potential 2. Beyond metabolism, GUK1 plays unexpected roles in cancer biology. In ALK-rearranged lung cancer, ALK phosphorylates GUK1 at tyrosine 74, increasing GDP biosynthesis to support oncogenic signaling 3. GUK1 is also overexpressed in GH-secreting pituitary adenomas 4 and linked to purine metabolism dysregulation in breast cancer 5. Additionally, GUK1 converts prodrugs including acyclovir and ganciclovir into active metabolites for antiviral and anticancer therapy.

Sources cited
1
GUK1 catalyzes conversion of GMP to GTP in cGMP cycle essential for phototransduction
PMID: 8647247
2
GUK1 has mitochondrial and cytosolic isoforms; deficiency causes mtDNA depletion syndrome with specific clinical features; amenable to deoxyguanosine/forodesine treatment
PMID: 39230499
3
ALK phosphorylates GUK1 at Y74 to increase GDP biosynthesis supporting lung cancer proliferation via MAPK/Ras-GTP signaling
PMID: 39919745
4
GUK1 is overexpressed in GH-secreting pituitary adenomas
PMID: 16832584
5
GUK1 is involved in purine metabolism regulation in breast cancer
PMID: 35351580
Disease Associationsβ“˜21
neurodegenerative diseaseOpen Targets
0.53Moderate
mitochondrial dna depletion syndrome 21Open Targets
0.47Moderate
transient myeloproliferative syndromeOpen Targets
0.05Suggestive
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9Open Targets
0.04Suggestive
reticular dysgenesisOpen Targets
0.03Suggestive
agingOpen Targets
0.03Suggestive
adenomaOpen Targets
0.03Suggestive
ovarian carcinomaOpen Targets
0.02Suggestive
SepsisOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
myxosarcomaOpen Targets
0.01Suggestive
LeishmaniasisOpen Targets
0.01Suggestive
Aarskog-Scott syndrome, X-linkedOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
pituitary adenocarcinomaOpen Targets
0.01Suggestive
systemic inflammatory response syndromeOpen Targets
0.01Suggestive
atrial fibrillationOpen Targets
0.01Suggestive
Hepatic fibrosisOpen Targets
0.01Suggestive
Mitochondrial DNA depletion syndrome 21UniProt
Pathogenic Variants4
NM_001159390.2(GUK1):c.61+1G>TLikely pathogenic
Mitochondrial dna depletion syndrome 21
β˜…β˜†β˜†β˜†2025
NM_001159390.2(GUK1):c.94G>A (p.Gly32Arg)Pathogenic
Mitochondrial dna depletion syndrome 21
β˜†β˜†β˜†β˜†2025β†’ Residue 32
NM_001159390.2(GUK1):c.139C>T (p.Gln47Ter)Pathogenic
Mitochondrial dna depletion syndrome 21
β˜†β˜†β˜†β˜†2025β†’ Residue 47
NM_001159390.2(GUK1):c.2T>G (p.Met1Arg)Pathogenic
Mitochondrial dna depletion syndrome 21
β˜†β˜†β˜†β˜†2025β†’ Residue 1
View on ClinVar β†—
Related Genes
PDE6GProtein interaction100%NME1Protein interaction99%PDE6BProtein interaction98%NME2Protein interaction97%NT5C2Protein interaction97%NT5CProtein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
77%
Liver
72%
Ovary
53%
Heart
49%
Brain
35%
Gene Interaction Network
Click a node to explore
GUK1PDE6GNME1PDE6BNME2NT5C2NT5C
PROTEIN STRUCTURE
Preparing viewer…
PDB9LO3 Β· 1.75 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.73 [0.48–1.12]
RankingsWhere GUK1 stands among ~20K protein-coding genes
  • #11,163of 20,598
    Most Researched34
  • #3,828of 5,498
    Most Pathogenic Variants4
  • #11,527of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedGUK1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
GUK1 activation is a metabolic liability in lung cancer.
PMID: 39919745
Cell Β· 2025
1.00
2
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.
PMID: 39230499
Ann Neurol Β· 2024
0.90
3
Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation.
PMID: 8647247
FEBS Lett Β· 1996
0.80
4
Identification of four mitochondria-related genes in sepsis based on RNA sequencing technology.
PMID: 38755528
BMC Immunol Β· 2024
0.70
5
Yeast GMP kinase mutants constitutively express AMP biosynthesis genes by phenocopying a hypoxanthine-guanine phosphoribosyltransferase defect.
PMID: 11063676
Genetics Β· 2000
0.60