LTN1: Listerin E3 Ubiquitin Protein Ligase 1
Key regulator of ribosome-associated protein quality control and neurodegeneration
Gene Information Card
| Symbol | LTN1 |
|---|---|
| Full Name | Listerin E3 Ubiquitin Protein Ligase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 26046 ncbi.nlm.nih.gov/gene/26046 |
| Ensembl ID | ENSG00000154719 |
| UniProt ID | O94822 |
| OMIM ID | 617461 |
| HGNC ID | 28982 |
| Aliases | C21orf10, DKFZp434B0328, listerin, RNF160 |
Description
LTN1 encodes listerin, a RING-type E3 ubiquitin ligase that functions in ribosome-associated protein quality control (RQC). It ubiquitinates nascent polypeptides stalled on ribosomes, targeting them for proteasomal degradation. LTN1 is critical for maintaining cellular protein homeostasis and preventing neurodegeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegeneration (mouse model) | Loss of LTN1 leads to accumulation of defective nascent proteins, causing motor neuron degeneration. | PMID: 18535668 |
| Spinocerebellar ataxia (potential) | LTN1 mutations may impair RQC, leading to toxic protein aggregates in Purkinje cells. | PMID: 29754768 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.3 | Medium |
| Heart | 8.1 | Low |
| Liver | 6.4 | Low |
| Kidney | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| SH-SY5Y | 11.2 | Neuronal cell line |
| HeLa | 9.8 | Moderate expression |
| HepG2 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) result in truncated, non-functional listerin, impairing RQC and leading to neurodegeneration.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • signal transduction involved in DNA integrity checkpoint (GO:0072422) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Ribosome-associated quality control (RQC)
• Ubiquitin-proteasome system
• Protein degradation
Protein Summary
Listerin is a 1,256-amino acid RING-type E3 ubiquitin ligase that localizes to the cytoplasm. It recognizes stalled ribosomes and ubiquitinates the nascent polypeptide chain, facilitating its extraction and degradation by the proteasome. This process is essential for preventing the accumulation of defective proteins, particularly in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LTN1 Knockout HEK293 Cell Line | EDJ-KQ14153 | Human | 26046 | Details Get a Quote |
| LTN1 Knockout A-549 Cell Line | EDJ-KQ44076 | Human | 26046 | Details Get a Quote |
| LTN1 Knockout HCT 116 Cell Line | EDJ-KQ44077 | Human | 26046 | Details Get a Quote |
| LTN1 Knockout HeLa Cell Line | EDJ-KQ18358 | Human | 26046 | Details Get a Quote |
