LSM3 Gene - LSM3 Homolog, U6 Small Nuclear RNA and mRNA Degradation Associated
A core component of the spliceosomal U6 snRNP and mRNA decay machinery, LSM3 is essential for pre-mRNA splicing and RNA turnover.
Gene Information Card
| Symbol | LSM3 |
|---|---|
| Full Name | LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.1 |
| NCBI Gene ID | 25858 ncbi.nlm.nih.gov/gene/25858 |
| Ensembl ID | ENSG00000163932 |
| UniProt ID | P62310 |
| OMIM ID | 607262 |
| HGNC ID | 20458 |
| Aliases | USS2, YLR438C-A, SmX3 |
Description
LSM3 encodes a member of the LSm (Like Sm) family of proteins, which form heptameric rings that bind RNA. LSM3 is a core component of the U6 snRNP complex in the spliceosome, where it stabilizes U6 snRNA and facilitates pre-mRNA splicing. It also participates in cytoplasmic mRNA decay pathways, including the 5'-3' and 3'-5' degradation processes. The protein is highly conserved from yeast to humans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of LSM3 expression may alter splicing fidelity and RNA turnover, contributing to oncogenesis. | COSMIC; literature (PMID: 30894373) |
| Neurodevelopmental disorders | Rare variants in LSM3 have been associated with intellectual disability and developmental delay. | ClinVar; literature (PMID: 31911631) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 6.1 | Low |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.2 | Medium expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in LSM3 are rare and may impair spliceosome assembly or mRNA decay, potentially leading to RNA processing defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LSM3.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for LSM3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Spliceosome (KEGG: hsa03040)
• mRNA surveillance pathway (KEGG: hsa03015)
• RNA degradation (KEGG: hsa03018)
Protein Summary
LSM3 is a 103-amino-acid protein (11.5 kDa) that belongs to the Sm-like protein family. It adopts a conserved Sm fold and assembles into a heteroheptameric ring with other LSm proteins (LSM2-8) that binds the 3' end of U6 snRNA. This complex is essential for U6 snRNP stability and spliceosome activation. In the cytoplasm, LSM3 is part of the LSm1-7 complex that promotes decapping and 5'-3' mRNA decay. The protein is ubiquitously expressed with highest levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LSM3 Knockout HEK293 Cell Line | EDJ-KQ51211 | Human | 27258 | Details Get a Quote |
| LSM3 Knockout HeLa Cell Line | EDJ-KQ56042 | Human | 27258 | Details Get a Quote |
| LSM3 Knockout A-549 Cell Line | EDJ-KQ64528 | Human | 27258 | Details Get a Quote |
| LSM3 Knockout HCT 116 Cell Line | EDJ-KQ72987 | Human | 27258 | Details Get a Quote |
