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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PGGT1B
protein geranylgeranyltransferase type I subunit beta
Chromosome 5 · 5q22.3
NCBI Gene: 5229Ensembl: ENSG00000164219.10HGNC: HGNC:8895UniProt: P53609
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingCAAX-protein geranylgeranyltransferase complexprotein geranylgeranyltransferase activityprotein geranylgeranylationneurodegenerative diseasefacial painbrain diseaseatrial heart septal defect
✦AI Summary

PGGT1B (protein geranylgeranyltransferase type I subunit beta) catalyzes the transfer of geranyl-geranyl moieties from geranyl-geranyl pyrophosphate to cysteine residues in target proteins bearing the C-terminal CAAX motif 1. Known substrates include the small GTPases RAC1, RAC2, RAP1A, and RAP1B, making PGGT1B essential for protein prenylation-dependent signaling. Mechanistically, PGGT1B-mediated geranylgeranylation of RAC1 is critical for cytoskeletal dynamics and cell mechanics in intestinal epithelial cells. Deletion of Pggt1b in intestinal epithelial cells arrests epithelial cell shedding, causing cell overcrowding, tight junction redistribution, and ultimately epithelial leakage and spontaneous mucosal inflammation 2. In immune cells, PGGT1B deletion promotes myeloid-driven inflammation through CDC42 activation, leading to NF-κB pathway hyperactivation and increased proinflammatory cytokine secretion (IL-1β, IL-6, TNF-α) 3. Clinically, PGGT1B expression is significantly downregulated in psoriasis patients' peripheral blood mononuclear cells and correlates negatively with disease severity, suggesting diagnostic potential 4. Myeloid PGGT1B deficiency aggravates imiquimod-induced psoriasiform dermatitis in mice, while PGGT1B deletion in macrophages promotes keratinocyte proliferation and impairs differentiation 3. These findings identify PGGT1B as a key regulator of immune homeostasis and epithelial barrier integrity with implications for inflammatory bowel disease and psoriasis therapeutics.

Sources cited
1
PGGT1B catalyzes transfer of geranyl-geranyl moieties to CAAX-motif proteins including RAC1, RAC2, RAP1A, RAP1B
PMID: 12702202
2
Pggt1b deletion in intestinal epithelium impairs RAC1 geranylgeranylation, disrupting cytoskeleton dynamics, cell shedding, and barrier integrity leading to inflammation
PMID: 35241625
3
Myeloid PGGT1B deficiency activates CDC42 and NF-κB signaling, increasing proinflammatory cytokines and aggravating psoriasiform dermatitis
PMID: 40430037
4
PGGT1B expression is downregulated in psoriasis patients' PBMCs and negatively correlates with disease severity (PASI score)
PMID: 33548111
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
facial painOpen Targets
0.31Weak
brain diseaseOpen Targets
0.30Weak
atrial heart septal defectOpen Targets
0.27Weak
breast carcinomaOpen Targets
0.09Suggestive
psoriasisOpen Targets
0.08Suggestive
melanomaOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
generalised epilepsyOpen Targets
0.05Suggestive
atrial flutterOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.04Suggestive
Premature ovarian insufficiencyOpen Targets
0.04Suggestive
goutOpen Targets
0.04Suggestive
essential hypertensionOpen Targets
0.04Suggestive
post term pregnancyOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
ovarian dysfunctionOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HEYLProtein interaction77%CCDC112Protein interaction72%FNTAProtein interaction68%RABGGTAProtein interaction57%RABGGTBShared pathway25%CHMLShared pathway20%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
80%
Brain
78%
Liver
69%
Lung
59%
Ovary
57%
Gene Interaction Network
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PGGT1BHEYLCCDC112FNTARABGGTARABGGTBCHML
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P53609
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.50–1.37]
RankingsWhere PGGT1B stands among ~20K protein-coding genes
  • #10,668of 20,598
    Most Researched37
  • #14,303of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedPGGT1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epithelial RAC1-dependent cytoskeleton dynamics controls cell mechanics, cell shedding and barrier integrity in intestinal inflammation.
PMID: 35241625
Gut · 2023
1.00
2
Genetic and Epigenetic Regulation of the Innate Immune Response to Gout.
PMID: 36745138
Immunol Invest · 2023
0.90
3
Protein prenyltransferases.
PMID: 12702202
Genome Biol · 2003
0.80
4
The diagnostic significance of PGGT1B in psoriasis.
PMID: 33548109
Dermatol Ther · 2021
0.70
5
Myeloid PGGT1B Deficiency Promotes Psoriasiform Dermatitis by Promoting the Secretion of Inflammatory Factors.
PMID: 40430037
Int J Mol Sci · 2025
0.60