GTPBP1: GTP-Binding Protein 1
A member of the GTPase superfamily involved in ribosome biogenesis and translational regulation
Gene Information Card
| Symbol | GTPBP1 |
|---|---|
| Full Name | GTP-binding protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 9567 ncbi.nlm.nih.gov/gene/9567 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | O00178 |
| OMIM ID | 608134 |
| HGNC ID | 4670 |
| Aliases | GP1, HSPC018, FLJ10656 |
Description
GTPBP1 encodes a member of the GTPase superfamily that binds GTP and is involved in ribosome biogenesis, translational regulation, and cellular stress responses. The protein localizes to the cytoplasm and nucleus, and its expression is regulated during cell cycle progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of GTPBP1 expression may alter ribosome assembly and translation, promoting uncontrolled cell proliferation. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodegenerative disorders | Impaired GTPBP1 function may disrupt protein synthesis in neurons, contributing to neurodegeneration. | ClinVar lists variants associated with neurological phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 10.2 | Medium |
| Kidney | 9.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Cervical cancer cell line; high expression |
| HEK293 | 11.2 | Embryonic kidney; moderate expression |
| A549 | 7.8 | Lung carcinoma; low expression |
| K562 | 13.1 | Leukemia; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.02% | Alters GTP-binding domain; potential loss of function |
| c.205G>A (p.Glu69Lys) | Missense | 0.01% | May affect protein stability |
| c.457_459del (p.Lys153del) | In-frame deletion | 0.005% | Deletion in conserved region; likely damaging |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the GTP-binding domain (e.g., p.Thr34Met) reduce GTPase activity and impair ribosome biogenesis.
Gain of Function (GOF)
No documented gain-of-function mutations for GTPBP1.
Dominant Negative (DN)
No evidence of dominant-negative effects reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
| • ribosome biogenesis (GO:0042254) | • translation (GO:0006412) |
Pathways
• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)
• GTPase cycle (Reactome: R-HSA-983168)
Protein Summary
GTPBP1 is a 45 kDa GTP-binding protein that cycles between GTP- and GDP-bound states to regulate ribosome assembly and translation. It contains a conserved GTPase domain and is ubiquitously expressed, with highest levels in brain and hematopoietic cells. Mutations in GTPBP1 are rare but associated with altered cellular proliferation and neurological phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GTPBP1 Knockout HEK293 Cell Line | EDJ-KQ6641 | Human | 9567 | Details Get a Quote |
| GTPBP10 Knockout HEK293 Cell Line | EDJ-KQ10394 | Human | 85865 | Details Get a Quote |
| GTPBP1 Knockout A-549 Cell Line | EDJ-KQ30911 | Human | 9567 | Details Get a Quote |
| GTPBP1 Knockout HCT 116 Cell Line | EDJ-KQ30912 | Human | 9567 | Details Get a Quote |
| GTPBP1 Knockout HeLa Cell Line | EDJ-KQ30913 | Human | 9567 | 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 |
