LSM7 Gene - LSM7 Homolog, U6 Small Nuclear RNA and mRNA Degradation Associated
A core component of the spliceosomal U6 snRNP and the cytoplasmic LSM1-7 complex involved in mRNA decay.
Gene Information Card
| Symbol | LSM7 |
|---|---|
| Full Name | LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 51690 ncbi.nlm.nih.gov/gene/51690 |
| Ensembl ID | ENSG00000130309 |
| UniProt ID | Q9UK45 |
| OMIM ID | 607262 |
| HGNC ID | 20462 |
| Aliases | YNL147W, LSM7, MDS006 |
Description
LSM7 encodes a member of the LSM (Like Sm) family of proteins, which form heptameric rings that bind RNA. LSM7 is a core component of the U6 snRNP in the nucleus, essential for pre-mRNA splicing, and also part of the cytoplasmic LSM1-7 complex that mediates mRNA decapping and degradation. The protein is highly conserved from yeast to humans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered LSM7 expression may disrupt splicing fidelity and mRNA turnover, contributing to oncogenesis. | COSMIC; literature review |
| Neurodevelopmental disorders | Rare variants in LSM7 have been implicated in intellectual disability and microcephaly. | ClinVar; OMIM |
| Spliceosomopathies | Mutations in LSM7 can impair U6 snRNP assembly, leading to global splicing defects. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Lymph node | 12.8 | High |
| Bone marrow | 11.5 | High |
| Brain | 8.3 | Medium |
| Liver | 6.1 | Medium |
| Heart | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 14.1 | High expression |
| HeLa (cervical) | 12.3 | High expression |
| HepG2 (liver) | 7.8 | Medium expression |
| A549 (lung) | 6.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Potential loss of RNA binding; reported in ClinVar |
| c.301_302del (p.Leu101fs) | Frameshift | <0.01% | Predicted loss of function; associated with neurodevelopmental phenotype |
| c.88G>A (p.Gly30Ser) | Missense | <0.01% | Uncertain significance; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in LSM7 are predicted to cause loss of function, impairing snRNP assembly and mRNA decay.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LSM7.
Dominant Negative (DN)
Missense mutations in the Sm domain may exert dominant-negative effects 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
LSM7 is a 103-amino-acid protein (11.6 kDa) containing a Sm domain that mediates RNA binding and protein-protein interactions. It assembles into two distinct heptameric rings: the nuclear LSM2-8 complex (with LSM2-8) that binds U6 snRNA, and the cytoplasmic LSM1-7 complex (with LSM1-6) that targets mRNAs for decapping. The protein is ubiquitously expressed and essential for cell viability.
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