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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GPN1
GPN-loop GTPase 1
Chromosome 2 · 2p23.3
NCBI Gene: 11321Ensembl: ENSG00000198522.15HGNC: HGNC:17030UniProt: Q53RZ9
71PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II complex bindingGTPase activityprotein bindingprotein import into nucleusneurodegenerative diseasenon-alcoholic fatty liver diseaseasthmaobesity
✦AI Summary

GPN1 (GPN-loop GTPase 1) is a small GTPase that plays a critical role in RNA polymerase II (RNAPII) nuclear import and assembly. The protein functions as a homodimer stabilized by its C-terminal tail, with the GTPase domain mediating dimer formation 1. GPN1 associates tightly with GPN3, another GTPase, and their protein levels are mutually dependent, suggesting they function as a heterodimeric complex 2. This complex directly interacts with RNAPII subunits, particularly RPB7/RPB4 and the C-terminal domain, facilitating nuclear import of the polymerase 3. Mechanistically, GPN1 shuttles between cytoplasm and nucleus, and its depletion leads to cytoplasmic accumulation of RNAPII and decreased nuclear levels 3. The protein exhibits GTPase activity that is essential for its function, as mutations in GTP-binding motifs impair RNAPII nuclear localization 4. GPN1 also associates with RPAP2, another RNAPII-associated protein involved in nucleocytoplasmic shuttling 5. In disease contexts, GPN1 shows increased expression in various cancers, particularly hepatocellular carcinoma, where it promotes cell migration and correlates with poor prognosis 6. Additionally, GPN1 expression is radiation-responsive, suggesting involvement in DNA damage responses 7.

Sources cited
1
GPN1 functions as a homodimer stabilized by its C-terminal tail and exhibits GTPase activity
PMID: 28153773
2
GPN1 associates tightly with GPN3 and their protein levels are mutually dependent
PMID: 25241168
3
GPN1/GPN3 complex directly interacts with RNAPII subunits and mediates nuclear import
PMID: 21768307
4
GPN1 shuttles between nucleus and cytoplasm and GTP-binding motifs are essential for RNAPII nuclear localization
PMID: 20855544
5
GPN1 associates with RPAP2 in nucleocytoplasmic shuttling processes
PMID: 23723243
6
GPN1 shows increased expression in cancers, promotes HCC cell migration, and correlates with poor prognosis
PMID: 39524004
7
GPN1 expression is radiation-responsive, suggesting involvement in DNA damage responses
PMID: 40473848
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.39Weak
non-alcoholic fatty liver diseaseOpen Targets
0.10Weak
asthmaOpen Targets
0.10Weak
obesityOpen Targets
0.10Weak
type 2 diabetes mellitusOpen Targets
0.10Weak
prostate carcinomaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
Uterine leiomyomaOpen Targets
0.06Suggestive
MODYOpen Targets
0.06Suggestive
lower respiratory tract diseaseOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
Rh deficiency syndromeOpen Targets
0.05Suggestive
diverticular diseaseOpen Targets
0.05Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.05Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.04Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.04Suggestive
maturity-onset diabetes of the young type 13Open Targets
0.04Suggestive
diabetes mellitus, transient neonatal, 3Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPRNShared pathway100%FAM53AShared pathway100%RPAINShared pathway100%TMCO6Shared pathway100%FAM53CShared pathway100%RANBP6Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
92%
Heart
73%
Lung
68%
Ovary
60%
Liver
56%
Gene Interaction Network
Click a node to explore
GPN1SPRNFAM53ARPAINTMCO6FAM53CRANBP6
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q53RZ9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.43LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.73 [0.40–1.43]
RankingsWhere GPN1 stands among ~20K protein-coding genes
  • #6,632of 20,598
    Most Researched71
  • #14,714of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedGPN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human Gpn1 purified from bacteria binds guanine nucleotides and hydrolyzes GTP as a protein dimer stabilized by its C-terminal tail.
PMID: 28153773
Protein Expr Purif · 2017
1.00
2
Comprehensive analysis of GPN1 in human cancer and its effects on the migration of hepatocellular carcinoma cells.
PMID: 39524004
Biomol Biomed · 2025
0.90
3
Gpn1 and Gpn3 associate tightly and their protein levels are mutually dependent in mammalian cells.
PMID: 25241168
FEBS Lett · 2014
0.80
4
The protein interaction network of the human transcription machinery reveals a role for the conserved GTPase RPAP4/GPN1 and microtubule assembly in nuclear import and biogenesis of RNA polymerase II.
PMID: 20855544
Mol Cell Proteomics · 2010
0.70
5
Human GTPases associate with RNA polymerase II to mediate its nuclear import.
PMID: 21768307
Mol Cell Biol · 2011
0.60