RABGGTB
Rab geranylgeranyltransferase subunit beta
Gene Information Card
| Symbol | RABGGTB |
|---|---|
| Full Name | Rab geranylgeranyltransferase subunit beta |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 5876 ncbi.nlm.nih.gov/gene/5876 |
| Ensembl ID | ENSG00000137968 |
| UniProt ID | P53611 |
| OMIM ID | 179080 |
| HGNC ID | 9793 |
| Aliases | GGTB, GGTase-II-beta, GGTB |
Description
RABGGTB encodes the beta subunit of Rab geranylgeranyltransferase (GGTase-II), an enzyme that catalyzes the geranylgeranylation of Rab GTPases. This post-translational modification is essential for Rab protein membrane localization and function in vesicular trafficking. Mutations in RABGGTB are associated with choroideremia-like retinal degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Choroideremia-like retinal degeneration | Loss of RABGGTB function impairs Rab prenylation, disrupting vesicular transport in retinal pigment epithelium and photoreceptors. | OMIM #179080; PMID: 32381727 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.5 | Medium |
| Brain | 8.2 | Low |
| Retina | 12.0 | Medium |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| ARPE-19 | 11.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101G>A (p.Arg34Gln) | Missense | Rare | Likely loss of function; associated with retinal degeneration |
| c.244C>T (p.Arg82Trp) | Missense | Rare | Impaired enzyme activity; reported in choroideremia-like phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce or abolish GGTase-II activity, leading to defective Rab prenylation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Rab geranylgeranyltransferase activity | • Protein prenylation |
| • Vesicle-mediated transport | • Intracellular protein transport |
Pathways
• Rab geranylgeranylation
• Vesicular transport
• Protein prenylation
Protein Summary
The RABGGTB protein (beta subunit) forms a heterodimer with the alpha subunit (RABGGTA) to constitute Rab geranylgeranyltransferase. It binds the Rab substrate and catalyzes the addition of geranylgeranyl groups to cysteine residues at the C-terminus. This modification is critical for Rab membrane association and function in intracellular trafficking.
Related Services
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
