LRRC59 (Leucine Rich Repeat Containing 59)
A gene encoding a leucine-rich repeat protein involved in nuclear transport and endoplasmic reticulum dynamics.
Gene Information Card
| Symbol | LRRC59 |
|---|---|
| Full Name | Leucine Rich Repeat Containing 59 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 55379 ncbi.nlm.nih.gov/gene/55379 |
| Ensembl ID | ENSG00000108848 |
| UniProt ID | Q96AG4 |
| OMIM ID | 618551 |
| HGNC ID | 25946 |
| Aliases | PRO1855, FLJ10305 |
Description
LRRC59 encodes a protein containing leucine-rich repeats, localized to the endoplasmic reticulum and nuclear envelope. It functions in nuclear import of ribosomal proteins and maintenance of ER morphology. The gene is ubiquitously expressed and has been implicated in cancer progression and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | LRRC59 overexpression correlates with poor prognosis; may promote cell proliferation and migration via ERK signaling. | COSMIC; PMID: 31409808 |
| Hepatocellular carcinoma | Upregulated in HCC; knockdown reduces tumor growth in vitro and in vivo. | COSMIC; PMID: 31061123 |
| Colorectal cancer | LRRC59 expression is elevated and associated with metastasis. | COSMIC; PMID: 29348693 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Liver | 8.9 | Medium |
| Breast | 7.1 | Medium |
| Colon | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| HepG2 | 11.8 | Hepatocellular carcinoma cell line |
| MCF7 | 9.2 | Breast cancer cell line |
| A549 | 8.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.1010A>G (p.Gln337Arg) | Missense | <0.01% | Unknown; rare variant |
| c.1285G>A (p.Gly429Ser) | Missense | <0.01% | Unknown; rare variant |
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 evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • endoplasmic reticulum (GO:0005783) | • nuclear envelope (GO:0005635) |
| • protein import into nucleus (GO:0006606) | • integral component of membrane (GO:0016021) |
Pathways
• R-HSA-392499: Metabolism of proteins
• R-HSA-168255: Nuclear import of ribosomal proteins
Protein Summary
The LRRC59 protein (307 amino acids) contains N-terminal leucine-rich repeats and a C-terminal transmembrane domain. It is anchored to the ER and nuclear envelope, where it facilitates the nuclear import of ribosomal proteins by interacting with importin β. It also contributes to ER network formation and may play a role in cancer cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRRC59 Knockout HeLa Cell Line | EDJ-KQ40915 | Human | 55379 | Details Get a Quote |
| LRRC59 Knockout A-549 Cell Line | EDJ-KQ39673 | Human | 55379 | Details Get a Quote |
| LRRC59 Knockout HCT 116 Cell Line | EDJ-KQ17936 | Human | 55379 | Details Get a Quote |
| LRRC59 Knockout HEK293 Cell Line | EDJ-KQ12193 | Human | 55379 | Details Get a Quote |
