LSM8 Gene - LSM8 Homolog, U6 Small Nuclear RNA Associated
A core component of the spliceosomal U6 snRNP and the LSM1-7 complex involved in mRNA degradation.
Gene Information Card
| Symbol | LSM8 |
|---|---|
| Full Name | LSM8 homolog, U6 small nuclear RNA associated |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.31 |
| NCBI Gene ID | 51691 ncbi.nlm.nih.gov/gene/51691 |
| Ensembl ID | ENSG00000106355 |
| UniProt ID | O95777 |
| OMIM ID | 607262 |
| HGNC ID | 29865 |
| Aliases | LSM8, YJR022W, LSM8 homolog |
Description
LSM8 encodes a member of the LSM (Like Sm) family of proteins, which form heptameric rings that bind RNA. LSM8 is a core component of the U6 small nuclear ribonucleoprotein (snRNP) complex essential for pre-mRNA splicing. It also participates in the cytoplasmic LSM1-7 complex involved in mRNA decapping and degradation. The protein is highly conserved across eukaryotes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spliceosomal disease (general) | Defects in U6 snRNP assembly or stability due to LSM8 mutations may impair splicing fidelity. | ClinVar, OMIM |
| Cancer (pan-cancer) | Somatic mutations in LSM8 have been observed in various cancers, potentially affecting RNA processing and cell cycle regulation. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain (cerebellum) | 11.5 | Medium |
| Liver | 9.3 | Low |
| Heart | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | Embryonic kidney cell line |
| HeLa | 13.2 | Cervical cancer cell line |
| K562 | 11.0 | Leukemia cell line |
| HepG2 | 9.8 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214A>G (p.Thr72Ala) | Missense | <0.01% | Unknown; reported in COSMIC |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Unknown; reported in COSMIC |
| c.448_449del (p.Leu150fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function, impairing U6 snRNP assembly.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the Sm domain may act as dominant-negative by disrupting heptamer formation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Spliceosome (KEGG hsa03040)
• mRNA surveillance pathway (KEGG hsa03015)
• RNA degradation (KEGG hsa03018)
Protein Summary
LSM8 is a 96-amino acid protein (10.9 kDa) containing a Sm domain that mediates RNA binding and protein-protein interactions. It assembles into a heptameric ring with other LSM proteins (LSM2-7) to form the U6 snRNP core, stabilizing U6 snRNA and facilitating spliceosome activation. In the cytoplasm, LSM8 is part of the LSM1-7 complex that promotes mRNA decapping and degradation. The protein is ubiquitously expressed with higher levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LSM8 Knockout HEK293 Cell Line | EDJ-KQ51341 | Human | 51691 | Details Get a Quote |
| LSM8 Knockout HeLa Cell Line | EDJ-KQ56347 | Human | 51691 | Details Get a Quote |
| LSM8 Knockout A-549 Cell Line | EDJ-KQ64836 | Human | 51691 | Details Get a Quote |
| LSM8 Knockout HCT 116 Cell Line | EDJ-KQ73281 | Human | 51691 | Details Get a Quote |
