LARP6: La Ribonucleoprotein Domain Family Member 6
A key regulator of collagen type I mRNA translation and fibrosis
Gene Information Card
| Symbol | LARP6 |
|---|---|
| Full Name | La Ribonucleoprotein Domain Family Member 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q23 |
| NCBI Gene ID | 55323 ncbi.nlm.nih.gov/gene/55323 |
| Ensembl ID | ENSG00000169621 |
| UniProt ID | Q9BRS8 |
| OMIM ID | 611300 |
| HGNC ID | 24079 |
| Aliases | FLJ11193, La-related protein 6, acheron |
Description
LARP6 encodes a member of the La-related protein family that specifically binds to the 5' stem-loop structure of collagen type I (COL1A1 and COL1A2) mRNAs. This binding is essential for efficient translation of collagen type I, a major extracellular matrix component. LARP6 also plays roles in cell migration, cytoskeletal organization, and embryonic development. Dysregulation of LARP6 is implicated in fibrotic diseases and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fibrosis (liver, lung, kidney) | LARP6 overexpression enhances collagen type I translation, leading to excessive extracellular matrix deposition. | PMID: 19801500 |
| Osteogenesis imperfecta (potential) | LARP6 mutations may disrupt collagen translation, affecting bone strength. | OMIM: 611300 |
| Breast cancer | LARP6 upregulation correlates with increased collagen production and tumor progression. | PMID: 25636800 |
| Colorectal cancer | LARP6 promotes cell proliferation and metastasis via collagen regulation. | PMID: 29150423 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Heart | 6.7 | Low |
| Skeletal muscle | 4.2 | Low |
| Pancreas | 9.8 | Low |
| Thyroid | 15.6 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 14.2 | High expression |
| A549 (lung cancer) | 9.5 | Moderate expression |
| MCF7 (breast cancer) | 11.8 | Moderate-high expression |
| HEK293 (embryonic kidney) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348Trp) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.1456G>A (p.Gly486Arg) | Missense | <0.01% | Potential loss of RNA-binding activity |
| c.1789_1790insA (p.Thr597Asnfs*2) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely cause loss of collagen translation regulation, potentially leading to reduced collagen production.
Gain of Function (GOF)
Not well characterized; overexpression in fibrosis suggests possible gain-of-function in pathological contexts.
Dominant Negative (DN)
Missense mutations in the RNA-binding domain may interfere with wild-type LARP6 function, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Collagen biosynthesis and modifying enzymes (Reactome: R-HSA-1650814)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• mRNA translation regulation (KEGG: hsa03013)
Protein Summary
LARP6 is a 597-amino acid protein containing an N-terminal La domain and a C-terminal RNA-binding domain. It specifically recognizes the 5' stem-loop structure of collagen type I mRNAs, recruiting them to the translation machinery. The protein also interacts with actin and microtubules, linking collagen translation to cytoskeletal dynamics. LARP6 is essential for proper collagen production during development and wound healing, and its dysregulation contributes to fibrosis and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LARP6 Knockout HEK293 Cell Line | EDJ-KQ14027 | Human | 55323 | Details Get a Quote |
| LARP6 Knockout HCT 116 Cell Line | EDJ-KQ43940 | Human | 55323 | Details Get a Quote |
| LARP6 Knockout HeLa Cell Line | EDJ-KQ43941 | Human | 55323 | Details Get a Quote |
| LARP6 Knockout A-549 Cell Line | EDJ-KQ42687 | Human | 55323 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
