GTPBP4: A Key Regulator of Ribosome Biogenesis and Cell Proliferation
Comprehensive genomic and functional analysis of GTP-binding protein 4 (GTPBP4), a nucleolar GTPase implicated in ribosome assembly, cell cycle control, and cancer.
Gene Information Card
| Symbol | GTPBP4 |
|---|---|
| Full Name | GTP binding protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p15.2 |
| NCBI Gene ID | 23560 ncbi.nlm.nih.gov/gene/23560 |
| Ensembl ID | ENSG00000107937 |
| UniProt ID | Q9BZE4 |
| OMIM ID | 602496 |
| HGNC ID | 4668 |
| Aliases | NOG1, CRFG, FLJ10656 |
Description
GTPBP4 (GTP binding protein 4) encodes a nucleolar GTPase that is essential for ribosome biogenesis, specifically the maturation of the 60S ribosomal subunit. The protein localizes to the nucleolus and is involved in pre-rRNA processing and cell cycle progression. Overexpression of GTPBP4 has been observed in various cancers, suggesting a role in tumorigenesis by promoting cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of GTPBP4 enhances ribosome biogenesis and cell cycle progression, promoting tumor growth. | PMID: 25944712 |
| Colorectal cancer | GTPBP4 upregulation correlates with poor prognosis and increased proliferation via mTOR signaling. | PMID: 29367642 |
| Breast cancer | GTPBP4 is overexpressed and associated with aggressive tumor features and reduced survival. | PMID: 31019283 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 22.3 | High |
| Bone marrow | 18.7 | Medium |
| Liver | 12.1 | Medium |
| Brain | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.2 | Cervical cancer cell line; high expression |
| HepG2 | 30.8 | Hepatocellular carcinoma cell line; high expression |
| MCF7 | 25.6 | Breast cancer cell line; moderate expression |
| A549 | 20.1 | Lung cancer cell line; moderate expression |
| K562 | 15.4 | Leukemia cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Glu349Lys) | Missense | 0.02% (COSMIC) | Unknown functional impact; observed in colorectal cancer |
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% (COSMIC) | Reported in lung adenocarcinoma; potential loss of function |
| c.789_790insA | Frameshift | <0.01% (COSMIC) | Predicted loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function, impairing ribosome biogenesis.
Gain of Function (GOF)
Missense mutations in the GTPase domain may lead to constitutive activation, enhancing cell proliferation.
Dominant Negative (DN)
No dominant-negative mutations have been reported for GTPBP4.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • nucleolus (GO:0005730) | • ribosome biogenesis (GO:0042254) |
| • maturation of LSU-rRNA (GO:0000470) | • cell cycle (GO:0007049) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• mTOR signaling pathway (Reactome: R-HSA-165159)
Protein Summary
GTPBP4 is a 635-amino acid nucleolar GTPase that belongs to the YlqF family. It contains a conserved GTP-binding domain and is essential for the maturation of the 60S ribosomal subunit. The protein interacts with ribosomal proteins and snoRNPs to facilitate pre-rRNA processing. Its expression is cell cycle-regulated, peaking in G2/M phase. Dysregulation of GTPBP4 contributes to oncogenesis by enhancing ribosome production and cell proliferation.
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