HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GOLPH3
golgi phosphoprotein 3
Chromosome 5 · 5p13.3
NCBI Gene: 64083Ensembl: ENSG00000113384.15HGNC: HGNC:15452UniProt: Q9H4A6
146PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingenzyme bindingphosphatidylinositol-4-phosphate bindingcargo adaptor activitybenign neoplasm of adrenal glandbreast diseasehepatocellular carcinomaurinary bladder carcinoma
✦AI Summary

GOLPH3 is a phosphatidylinositol-4-phosphate-binding protein that localizes to the trans-Golgi network and serves as a cargo adaptor for COPI-coated vesicles 1. Its primary function involves maintaining Golgi architecture and regulating vesicular trafficking between Golgi compartments and the plasma membrane 2. Mechanistically, GOLPH3 links Golgi membranes to the cytoskeleton, facilitating membrane dynamics required for vesicle budding and Golgi ribbon formation 1. It maintains proper Golgi localization of glycosylation enzymes and the LYSET-GNPT complex, essential for mannose-6-phosphate tagging and lysosomal enzyme trafficking 3. Clinically, GOLPH3 is frequently amplified in multiple solid tumors including breast cancer, glioblastoma, colorectal cancer, and lung cancer, where overexpression correlates with poor prognosis and tumor metastasis 24. Its oncogenic activity involves enhanced mTOR signaling; Drosophila studies demonstrate GOLPH3 physically interacts with mTOR pathway components (Tctp and 14-3-3 proteins) and regulates Golgi localization of Rheb, promoting mTORC1 activation and organ growth 5. Additionally, GOLPH3 influences cancer phenotypes through controlling exosome content and loading of oncogenic molecules 4, and participates in DNA damage response and genomic stability maintenance 2. These multifaceted roles make GOLPH3 a promising therapeutic target for cancer intervention.

Sources cited
1
GOLPH3 localizes to Golgi through PI4P interaction, functions as COPI-coated vesicle cargo adaptor, and regulates glycosylation pathways involved in cancer progression
PMID: 40136688
2
GOLPH3 and GOLPH3L maintain Golgi localization of LYSET and GNPT complex, essential for mannose-6-phosphate tagging machinery and lysosomal enzyme homeostasis
PMID: 39587297
3
GOLPH3 is frequently amplified in solid tumors with poor prognosis; regulates Golgi-to-plasma membrane trafficking, glycosylation, DNA damage response, and genomic stability
PMID: 32023813
4
GOLPH3 overexpression reported in multiple cancer types; regulates exosome content and loading of oncogenic molecules contributing to tumor malignancy and metastasis
PMID: 36320176
5
GOLPH3 physically interacts with mTOR signaling proteins (Tctp, 14-3-3ζ) and regulates Rheb Golgi localization, promoting mTORC1 activation and organ growth in Drosophila
PMID: 36435842
6
GOLPH3 is a PI4P-binding protein localized at trans-Golgi network; regulates vesicular trafficking, glycosylation, mitochondrial cardiolipin production, and DNA damage response
PMID: 27378035
Disease Associationsⓘ20
benign neoplasm of adrenal glandOpen Targets
0.30Weak
breast diseaseOpen Targets
0.29Weak
hepatocellular carcinomaOpen Targets
0.21Weak
urinary bladder carcinomaOpen Targets
0.21Weak
lung adenocarcinomaOpen Targets
0.21Weak
esophageal squamous cell carcinomaOpen Targets
0.21Weak
melanomaOpen Targets
0.20Weak
cutaneous melanomaOpen Targets
0.19Weak
pancreatic ductal adenocarcinomaOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.19Weak
bladder transitional cell carcinomaOpen Targets
0.19Weak
colon adenocarcinomaOpen Targets
0.19Weak
colorectal adenocarcinomaOpen Targets
0.19Weak
prostate carcinomaOpen Targets
0.19Weak
gastric carcinomaOpen Targets
0.19Weak
HER2 Positive Breast CarcinomaOpen Targets
0.18Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.18Weak
pancreatic neuroendocrine tumorOpen Targets
0.18Weak
soft tissue sarcomaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARCN1Protein interaction92%ARF1Protein interaction92%COPAProtein interaction92%COPB1Protein interaction92%GOLGA2Protein interaction92%LMAN1Protein interaction92%
Tissue Expression6 tissues
Liver
100%
Brain
55%
Lung
51%
Heart
51%
Ovary
46%
Bone Marrow
23%
Gene Interaction Network
Click a node to explore
GOLPH3ARCN1ARF1COPACOPB1GOLGA2LMAN1
PROTEIN STRUCTURE
Preparing viewer…
PDB3KN1 · 2.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.63 [0.38–1.10]
RankingsWhere GOLPH3 stands among ~20K protein-coding genes
  • #3,108of 20,598
    Most Researched146 · top quartile
  • #11,241of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedGOLPH3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GOLPH3-mTOR Crosstalk and Glycosylation: A Molecular Driver of Cancer Progression.
PMID: 40136688
Cells · 2025
1.00
2
GOLPH3 and GOLPH3L maintain Golgi localization of LYSET and a functional mannose 6-phosphate transport pathway.
PMID: 39587297
EMBO J · 2024
0.90
3
GOLPH3 and oncogenesis: What is the molecular link?
PMID: 27378035
Tissue Cell · 2017
0.80
4
Myosin XVIII.
PMID: 32451870
Adv Exp Med Biol · 2020
0.70
5
Linking GOLPH3 and Extracellular Vesicles Content-a Potential New Route in Cancer Physiopathology and a Promising Therapeutic Target is in Sight?
PMID: 36320176
Technol Cancer Res Treat · 2022
0.60