PGGHG
Protein Geranylgeranyltransferase Type I Subunit Beta
Gene Information Card
| Symbol | PGGHG |
|---|---|
| Full Name | Protein Geranylgeranyltransferase Type I Subunit Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 129285 ncbi.nlm.nih.gov/gene/129285 |
| Ensembl ID | ENSG00000162521 |
| UniProt ID | Q9H6S3 |
| OMIM ID | 618233 |
| HGNC ID | 28710 |
| Aliases | GGTase-I-beta, GGTB, GGTI-B |
Description
PGGHG encodes the beta subunit of geranylgeranyltransferase type I (GGTase-I), an enzyme that catalyzes the addition of a geranylgeranyl isoprenoid group to cysteine residues in proteins containing a CAAX motif. This prenylation is critical for membrane localization and function of small GTPases such as Rho and Rac. The gene is located on chromosome 1p31.1 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Gingival Fibromatosis | Loss of function in PGGHG leads to dysregulation of Rho GTPase signaling, causing excessive connective tissue growth. | PMID: 26073779, OMIM 618233 |
| Cancer (general) | Altered expression of PGGHG may affect prenylation of oncogenic GTPases, contributing to tumor progression. | COSMIC, PMID: 29127120 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Lung | 9.8 | Low |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HeLa | 11.2 | Moderate expression |
| K562 | 7.8 | Low expression |
| HepG2 | 13.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35Ter) | Nonsense | <0.01% | Loss of function; associated with hereditary gingival fibromatosis |
| c.497G>A (p.Arg166Gln) | Missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg35Ter) result in truncated protein and loss of GGTase-I activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Rab geranylgeranyltransferase activity (GO:0004663) | • protein geranylgeranyltransferase complex (GO:0005961) |
| • protein geranylgeranylation (GO:0018344) | • intracellular anatomical structure (GO:0005622) |
Pathways
• Protein prenylation (Reactome R-HSA-597592)
• Signaling by Rho GTPases (Reactome R-HSA-194315)
Protein Summary
PGGHG encodes the beta subunit of geranylgeranyltransferase type I (GGTase-I). The protein forms a heterodimer with the alpha subunit (FNTA) to catalyze the transfer of a geranylgeranyl group from geranylgeranyl diphosphate to target proteins containing a C-terminal CAAX motif. This modification is essential for the membrane anchoring and biological activity of small GTPases such as Rho, Rac, and Cdc42. Mutations in PGGHG cause hereditary gingival fibromatosis type 6 (HGF6).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGGHG Knockout HEK293 Cell Line | EDJ-KQ9467 | Human | 80162 | Details Get a Quote |
| PGGHG Knockout A-549 Cell Line | EDJ-KQ36173 | Human | 80162 | Details Get a Quote |
| PGGHG Knockout HCT 116 Cell Line | EDJ-KQ36174 | Human | 80162 | Details Get a Quote |
| PGGHG Knockout HeLa Cell Line | EDJ-KQ36175 | Human | 80162 | Details Get a Quote |
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