LSM5 Gene - U6 snRNA-Associated Sm-Like Protein
Essential component of the spliceosomal U6 snRNP and mRNA degradation pathways
Gene Information Card
| Symbol | LSM5 |
|---|---|
| Full Name | LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated |
| Gene Type | Protein coding |
| Chromosomal Location | 7p14.3 |
| NCBI Gene ID | 23658 ncbi.nlm.nih.gov/gene/23658 |
| Ensembl ID | ENSG00000106355 |
| UniProt ID | Q9Y4Y9 |
| OMIM ID | 607285 |
| HGNC ID | 20462 |
| Aliases | YER146W, SMD7, LSm5 |
Description
LSM5 encodes a member of the Sm-like protein family that forms heptameric ring complexes involved in RNA processing. The protein is a core component of the U6 snRNP spliceosomal complex and the cytoplasmic LSm1-7 complex, which mediates mRNA decapping and degradation. LSM5 is essential for pre-mRNA splicing and mRNA turnover.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered splicing and mRNA stability due to LSM5 dysregulation | COSMIC; TCGA expression data |
| Developmental disorders | Potential role in spliceosome dysfunction | OMIM #607285; limited case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Lymph node | 22.1 | High |
| Spleen | 20.5 | High |
| Brain | 15.3 | Medium |
| Liver | 12.0 | Medium |
| Heart | 10.4 | Medium |
| Kidney | 9.8 | Medium |
| Lung | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 25.3 | Leukemia cell line |
| HeLa | 22.0 | Cervical carcinoma |
| HEK293 | 19.7 | Embryonic kidney |
| HepG2 | 17.4 | Hepatocellular carcinoma |
| A549 | 15.1 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; COSMIC |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown functional impact; ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Spliceosome (KEGG: hsa03040)
• mRNA surveillance pathway (KEGG: hsa03015)
• RNA degradation (KEGG: hsa03018)
Protein Summary
LSM5 is a 92-amino-acid protein (10.5 kDa) belonging to the Sm-like family. It contains a conserved Sm domain that mediates RNA binding and protein-protein interactions. LSM5 assembles into the U6 snRNP heptameric ring (LSM2-8) in the nucleus and the LSm1-7 complex in the cytoplasm. The protein is ubiquitously expressed and essential for cell viability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LSM5 Knockout HEK293 Cell Line | EDJ-KQ51126 | Human | 23658 | Details Get a Quote |
| LSM5 Knockout HeLa Cell Line | EDJ-KQ55792 | Human | 23658 | Details Get a Quote |
| LSM5 Knockout A-549 Cell Line | EDJ-KQ64288 | Human | 23658 | Details Get a Quote |
| LSM5 Knockout HCT 116 Cell Line | EDJ-KQ72736 | Human | 23658 | Details Get a Quote |
