LTV1
LTV1 ribosome biogenesis factor
Gene Information Card
| Symbol | LTV1 |
|---|---|
| Full Name | LTV1 ribosome biogenesis factor |
| Gene Type | protein-coding |
| Chromosomal Location | 6q24.1 |
| NCBI Gene ID | 84946 ncbi.nlm.nih.gov/gene/84946 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q96GX7 |
| OMIM ID | 617531 |
| HGNC ID | 25038 |
| Aliases | FLJ10858, MGC138290 |
Description
LTV1 encodes a protein involved in the biogenesis of the small ribosomal subunit (40S). It is a component of the pre-40S ribosomal particle and is required for the cytoplasmic maturation of the 40S subunit. The protein is conserved across eukaryotes and plays a role in the export of pre-ribosomal particles from the nucleus to the cytoplasm.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | LTV1 overexpression may promote tumorigenesis by enhancing ribosome biogenesis and protein synthesis. | COSMIC; PMID: 25631443 |
| Colorectal cancer | LTV1 is upregulated in colorectal cancer tissues and associated with poor prognosis. | PMID: 25631443 |
| Hepatocellular carcinoma | LTV1 expression is elevated in liver cancer and correlates with aggressive tumor features. | PMID: 31065110 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Bone marrow | 8.2 | Medium |
| Lymph node | 7.1 | Medium |
| Brain | 3.4 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| K562 | 9.8 | Leukemia cell line |
| A549 | 7.5 | Lung cancer cell line |
| HepG2 | 6.2 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.682G>A (p.Glu228Lys) | Missense | 0.005% (gnomAD) | Unknown functional impact |
| c.1003_1004insA (p.Thr335Asnfs*2) | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr335Asnfs*2) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LTV1.
Dominant Negative (DN)
No dominant-negative mutations have been described for LTV1.
View complete mutation data：
Gene Ontology (GO)
| • maturation of SSU-rRNA from tricistronic rRNA transcript (GO:0000462) | • nucleolus (GO:0005730) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
| • ribosome biogenesis (GO:0042254) | • ribosomal small subunit biogenesis (GO:0042274) |
Pathways
• Ribosome biogenesis (Reactome: R-HSA-6791226)
• Major pathway of rRNA processing in the nucleolus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
LTV1 is a 416-amino acid protein (UniProt Q96GX7) that localizes to the nucleolus and cytoplasm. It is a component of the pre-40S ribosomal particle and is essential for the cytoplasmic maturation of the small ribosomal subunit. The protein contains a conserved LTV1 domain and interacts with other ribosome biogenesis factors such as ENP1 and TSR1.
Related Services
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|---|---|---|---|---|
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