RPL7L1
Ribosomal Protein L7 Like 1
Gene Information Card
| Symbol | RPL7L1 |
|---|---|
| Full Name | Ribosomal Protein L7 Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 285855 ncbi.nlm.nih.gov/gene/285855 |
| Ensembl ID | ENSG00000146216 |
| UniProt ID | Q6DKI1 |
| OMIM ID | 618309 |
| HGNC ID | 19887 |
| Aliases | bA3J10.3, dJ475N16.2, L7-like, RPL7L |
Description
RPL7L1 encodes a protein similar to ribosomal protein L7, a component of the 60S ribosomal subunit. The encoded protein may play a role in ribosome biogenesis or translation regulation. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated in OMIM or ClinVar | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.5 | Medium |
| Spleen | 9.8 | Low |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 8.5 | Low expression |
| K562 | 7.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data:
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • ribosome (GO:0005840) |
| • translation (GO:0006412) |
Pathways
• Ribosome (KEGG: hsa03010)
Protein Summary
The RPL7L1 protein is a 244-amino acid component of the large 60S ribosomal subunit, predicted to be involved in protein synthesis. It shares sequence similarity with ribosomal protein L7 but its exact function in ribosome assembly or translation remains to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL7L1 Knockout HEK293 Cell Line | EDJ-KQ52218 | Human | 285855 | Details Get a Quote |
| RPL7L1 Knockout HeLa Cell Line | EDJ-KQ59535 | Human | 285855 | Details Get a Quote |
| RPL7L1 Knockout A-549 Cell Line | EDJ-KQ68003 | Human | 285855 | Details Get a Quote |
| RPL7L1 Knockout HCT 116 Cell Line | EDJ-KQ76381 | Human | 285855 | Details Get a Quote |