LSG1
Large 60S subunit nuclear export GTPase 1
Gene Information Card
| Symbol | LSG1 |
|---|---|
| Full Name | Large 60S subunit nuclear export GTPase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 55341 ncbi.nlm.nih.gov/gene/55341 |
| Ensembl ID | ENSG00000114739 |
| UniProt ID | Q9H089 |
| OMIM ID | 611338 |
| HGNC ID | 25679 |
| Aliases | FLJ10534, KIAA0182 |
Description
LSG1 encodes a GTPase that plays a critical role in the nuclear export of the large 60S ribosomal subunit. It is involved in ribosome biogenesis and translation regulation. The protein localizes to the nucleolus and is essential for cell growth and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered LSG1 expression may affect ribosome assembly and protein synthesis, contributing to tumorigenesis. | COSMIC; PMID: 23535729 |
| Breast cancer | Overexpression of LSG1 has been observed, potentially driving cell proliferation via enhanced ribosome export. | COSMIC; PMID: 25691885 |
| Hepatocellular carcinoma | LSG1 upregulation correlates with poor prognosis and may promote cell cycle progression. | COSMIC; PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 6.5 | Low |
| Liver | 5.2 | Low |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 11.7 | Medium expression |
| HepG2 | 8.9 | Medium expression |
| MCF7 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | <0.01% | Unknown functional effect |
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | Unknown functional effect |
| c.1456_1457insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1456_1457insA) are predicted to cause premature truncation and loss of GTPase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported in LSG1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for LSG1.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity (GO:0003924) | • GTP binding (GO:0005525) |
| • ribosome biogenesis (GO:0042254) | • nuclear export (GO:0051168) |
| • nucleolus (GO:0005730) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
LSG1 is a 60S ribosomal subunit nuclear export GTPase that facilitates the release of the large ribosomal subunit from the nuclear export complex. It contains a conserved GTP-binding domain and is essential for proper ribosome assembly and transport. The protein is widely expressed, with highest levels in testis and lymph node.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
