RABGGTA
Rab Geranylgeranyltransferase Subunit Alpha
Gene Information Card
| Symbol | RABGGTA |
|---|---|
| Full Name | Rab geranylgeranyltransferase subunit alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 5875 ncbi.nlm.nih.gov/gene/5875 |
| Ensembl ID | ENSG00000100884 |
| UniProt ID | Q92696 |
| OMIM ID | 601905 |
| HGNC ID | 9792 |
| Aliases | GGTase-II-alpha, GGTI, RABGGTase-alpha |
Description
RABGGTA encodes the alpha subunit of Rab geranylgeranyltransferase (GGTase-II), an enzyme that catalyzes the addition of geranylgeranyl groups to Rab GTPases. This prenylation is essential for Rab protein membrane localization and function in vesicular trafficking. Mutations in RABGGTA are associated with choroideremia-like retinal degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Choroideremia | Loss of RABGGTA function impairs Rab prenylation, disrupting retinal pigment epithelium and photoreceptor vesicle trafficking. | ClinVar, OMIM |
| Retinitis pigmentosa | Defective Rab geranylgeranylation leads to progressive photoreceptor degeneration. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Retina | 15.3 | High |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Moderate expression |
| HeLa | 7.4 | Moderate expression |
| ARPE-19 | 14.2 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.120G>A (p.Trp40*) | Nonsense | <0.01% | Loss of function, associated with choroideremia |
| c.244C>T (p.Arg82Cys) | Missense | <0.01% | Impaired enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause complete loss of prenylation activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Rab geranylgeranyltransferase activity (GO:0004662) | • Rab geranylgeranyltransferase complex (GO:0005961) |
| • protein geranylgeranylation (GO:0018344) | • intracellular protein transport (GO:0006886) |
Pathways
• ['Rab geranylgeranylation'
• 'Reactome R-HSA-8873719']
• ['Vesicle-mediated transport'
• 'Reactome R-HSA-5653656']
Protein Summary
The alpha subunit of Rab geranylgeranyltransferase (GGTase-II) forms a heterodimer with the beta subunit (RABGGTB). It binds Rab proteins and facilitates the transfer of geranylgeranyl groups from geranylgeranyl diphosphate. The enzyme is critical for Rab GTPase membrane anchoring and function in endocytosis and exocytosis.
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