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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GTPBP10
GTP binding protein 10
Chromosome 7 · 7q21.13
NCBI Gene: 85865Ensembl: ENSG00000105793.17HGNC: HGNC:25106UniProt: A4D1E9
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial matrixRNA bindingmitochondrial large ribosomal subunit assemblymitochondrionneurodegenerative diseaseAbnormality of the skeletal systemosteitis deformansBlackfan-Diamond anemia
✦AI Summary

GTPBP10 is a GTPase involved in late-stage mitochondrial ribosomal large subunit (mtLSU) biogenesis 1. The protein associates with mtLSU precursors and functions as a ribosome maturation factor, forming complexes with other biogenesis factors including MALSU1, SMCR7L, MTERF4, and NSUN4 1. Structurally, GTPBP10 maintains immature conformations of 16S rRNA domains during assembly 2. GTPBP10 deficiency severely impairs 55S monosome formation, resulting in defective mitochondrial DNA expression and reduced cell growth 1. In disease contexts, GTPBP10 downregulation has been implicated in Huntington's disease progression, where edited microRNAs suppress GTPBP10 expression and contribute to mitochondrial dysfunction 3. Clinically, GTPBP10 exhibits differential expression across multiple cancer types and serves as a potential prognostic biomarker associated with immune microenvironment composition 4. Additionally, GTPBP10 shows cancer-associated alternative splicing patterns in leukemia 5. The protein coordinates with other GTPases like GTPBP5, GTPBP6, and GTPBP7 in ribosomal assembly pathways 67, suggesting functional interdependence among mitochondrial GTPases.

Sources cited
1
GTPBP10 is an Obg protein that associates with mtLSU late maturation states, forms complexes with biogenesis factors (MALSU1, SMCR7L, MTERF4, NSUN4), and its deficiency reduces 55S monosome formation
PMID: 30085210
2
GTPBP10 is identified as an assembly factor that maintains immature conformations of 16S rRNA domains during late 39S pre-mitoribosome assembly
PMID: 34315873
3
Edited hsa-mir-10b-5p represses GTPBP10 in Huntington's disease, and GTPBP10 downregulation contributes to disease progression through mitochondrial dysfunction
PMID: 35210471
4
GTPBP10 is differentially expressed across multiple cancer types and has prognostic value associated with tumor immune microenvironment
PMID: 35320117
5
GTPBP10 exhibits alternative splicing in mutually exclusive exons shared across leukemia subtypes
PMID: 36595475
6
GTPBP10 accumulates in late assembly intermediates when GTPBP6 is ablated, indicating coordination among GTPases in mtLSU biogenesis
PMID: 33264405
7
GTPBP10 accumulates as an assembly factor in GTPBP5-knockout mitochondria, demonstrating functional interdependence among GTPases in mtLSU maturation
PMID: 32652011
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
Abnormality of the skeletal systemOpen Targets
0.40Moderate
osteitis deformansOpen Targets
0.27Weak
Blackfan-Diamond anemiaOpen Targets
0.07Suggestive
MODYOpen Targets
0.06Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
inosine triphosphatase deficiencyOpen Targets
0.06Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.06Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.05Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.05Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.05Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GTPBP6Shared pathway100%MRPL11Protein interaction95%MRPL20Protein interaction94%MRPL27Protein interaction93%MRPL58Protein interaction93%MRPL21Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Heart
94%
Liver
87%
Ovary
55%
Lung
40%
Bone Marrow
36%
Gene Interaction Network
Click a node to explore
GTPBP10GTPBP6MRPL11MRPL20MRPL27MRPL58MRPL21
PROTEIN STRUCTURE
Preparing viewer…
PDB8PK0 · 3.03 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.46–1.28]
RankingsWhere GTPBP10 stands among ~20K protein-coding genes
  • #8,203of 20,598
    Most Researched55
  • #13,448of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedGTPBP10
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MicroRNA editing patterns in Huntington's disease.
PMID: 35210471
Sci Rep · 2022
1.00
2
The human Obg protein GTPBP10 is involved in mitoribosomal biogenesis.
PMID: 30085210
Nucleic Acids Res · 2018
0.90
3
Pan-cancer analysis revealed the significance of the GTPBP family in cancer.
PMID: 35320117
Aging (Albany NY) · 2022
0.80
4
A distinct assembly pathway of the human 39S late pre-mitoribosome.
PMID: 34315873
Nat Commun · 2021
0.70
5
RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases.
PMID: 32735630
PLoS Genet · 2020
0.60