GTPBP8: GTP-Binding Protein 8
A mitochondrial GTPase involved in translation and cellular homeostasis
Gene Information Card
| Symbol | GTPBP8 |
|---|---|
| Full Name | GTP-Binding Protein 8 (Putative) |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.2 |
| NCBI Gene ID | 29083 ncbi.nlm.nih.gov/gene/29083 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q8N5M9 |
| OMIM ID | 618531 |
| HGNC ID | 25526 |
| Aliases | FLJ11184, MGC138290 |
Description
GTPBP8 encodes a putative GTP-binding protein localized to the mitochondria. It is involved in mitochondrial translation and ribosome assembly, playing a role in cellular energy metabolism and protein synthesis. The protein contains a conserved GTPase domain characteristic of the GTP-binding protein family.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency | Impaired mitochondrial translation due to GTPBP8 dysfunction | ClinVar |
| Mitochondrial respiratory chain disorders | Disrupted GTPase activity affecting mitochondrial ribosome function | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Brain | 8.1 | Low |
| Kidney | 9.8 | Medium |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Potential loss of function |
| c.100C>T | Nonsense | <0.01% | Truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations predicted to cause loss of GTPase activity and mitochondrial dysfunction.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • mitochondrion | • mitochondrial translation |
| • ribosome assembly |
Pathways
• Mitochondrial translation
• GTPase signaling
Protein Summary
GTPBP8 is a 366-amino acid protein with a molecular weight of approximately 41 kDa. It contains a GTP-binding domain and localizes to the mitochondrial matrix. The protein is essential for mitochondrial ribosome biogenesis and translation, impacting oxidative phosphorylation and cellular energy production.
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