GTPBP10 Gene - GTP-Binding Protein 10
Essential regulator of mitochondrial ribosome assembly and translation
Gene Information Card
| Symbol | GTPBP10 |
|---|---|
| Full Name | GTP-binding protein 10 (putative) |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.13 |
| NCBI Gene ID | 100288332 ncbi.nlm.nih.gov/gene/100288332 |
| Ensembl ID | ENSG00000204310 |
| UniProt ID | A6NNA5 |
| OMIM ID | 618869 |
| HGNC ID | 28238 |
| Aliases | OBGH2, GTPBP10, bA421M1.4 |
Description
GTPBP10 encodes a putative GTP-binding protein localized to the mitochondria. It is involved in the assembly of the mitochondrial large ribosomal subunit (mtLSU) and is essential for efficient mitochondrial translation. The protein binds GTP and is required for proper mitochondrial function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 53 | Loss-of-function mutations impair mitochondrial ribosome assembly, leading to defective oxidative phosphorylation | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Disrupted mitochondrial translation reduces complex I assembly and activity | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal muscle | 10.1 | Medium |
| Liver | 8.5 | Medium |
| Brain | 6.2 | Low |
| Kidney | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression |
| HeLa | 11.2 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
| K562 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98*) | Nonsense | Rare | Premature stop, loss of protein function |
| c.464G>A (p.Arg155Gln) | Missense | Rare | Impaired GTP binding and ribosome assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing mitochondrial ribosome assembly and translation.
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)
| • GTP binding | • GTPase activity |
| • mitochondrial large ribosomal subunit assembly | • mitochondrial translation |
| • mitochondrion |
Pathways
• Mitochondrial ribosome assembly
• Mitochondrial translation
Protein Summary
GTPBP10 is a mitochondrial GTP-binding protein that plays a critical role in the assembly of the large ribosomal subunit (mtLSU). It binds GTP and likely acts as a GTPase to facilitate proper ribosome biogenesis. Loss of function leads to impaired mitochondrial translation and oxidative phosphorylation defects, associated with combined oxidative phosphorylation deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GTPBP10 Knockout HEK293 Cell Line | EDJ-KQ10394 | Human | 85865 | Details Get a Quote |
| GTPBP10 Knockout A-549 Cell Line | EDJ-KQ36453 | Human | 85865 | Details Get a Quote |
| GTPBP10 Knockout HCT 116 Cell Line | EDJ-KQ37736 | Human | 85865 | Details Get a Quote |
| GTPBP10 Knockout HeLa Cell Line | EDJ-KQ37737 | Human | 85865 | Details Get a Quote |
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