RPL37: Ribosomal Protein L37
A component of the large ribosomal subunit involved in protein synthesis and implicated in Diamond-Blackfan anemia
Gene Information Card
| Symbol | RPL37 |
|---|---|
| Full Name | Ribosomal Protein L37 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.1 |
| NCBI Gene ID | 6167 ncbi.nlm.nih.gov/gene/6167 |
| Ensembl ID | ENSG00000145592 |
| UniProt ID | P61927 |
| OMIM ID | 604181 |
| HGNC ID | 10360 |
| Aliases | L37, MGC117267 |
Description
RPL37 encodes a ribosomal protein that is a component of the 60S large ribosomal subunit. The protein belongs to the L37E family of ribosomal proteins and is involved in the initiation of protein synthesis. Mutations in RPL37 have been associated with Diamond-Blackfan anemia, a rare congenital bone marrow failure syndrome characterized by erythroid aplasia and increased risk of malignancy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPL37 impair ribosome biogenesis, leading to defective erythropoiesis and bone marrow failure. | ClinVar; PMID: 24675577 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 15.2 | Medium |
| Lymph Node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Testis | 10.9 | Medium |
| Brain | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 18.5 | High expression; relevant to erythroid lineage |
| HeLa (cervical carcinoma) | 14.2 | Medium expression |
| HEK293 (embryonic kidney) | 12.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon; predicted loss of function |
| c.175C>T (p.Arg59Trp) | missense | Rare | Impaired ribosome assembly; associated with Diamond-Blackfan anemia |
Mutation functional classification
Loss of Function (LOF)
Mutations in RPL37, such as start codon loss or missense variants, reduce functional ribosomal protein L37, impairing ribosome biogenesis and causing Diamond-Blackfan anemia.
Gain of Function (GOF)
No gain-of-function mutations reported for RPL37.
Dominant Negative (DN)
Haploinsufficiency is the proposed mechanism; no dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • ribosome biogenesis (GO:0042254) | • cytoplasmic large ribosomal subunit (GO:0022625) |
Pathways
• Eukaryotic Translation Initiation (Reactome: R-HSA-72649)
• Formation of the 60S ribosomal subunit (Reactome: R-HSA-6791226)
Protein Summary
Ribosomal protein L37 is a 97-amino-acid protein that localizes to the large 60S ribosomal subunit. It contains a zinc finger-like domain and is essential for ribosome assembly and translation. The protein is highly conserved across eukaryotes and is expressed in all tissues, with highest levels in bone marrow and lymphoid organs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL37 Knockout HEK293 Cell Line | EDJ-KQ50585 | Human | 6167 | Details Get a Quote |
| RPL37 Knockout HeLa Cell Line | EDJ-KQ54353 | Human | 6167 | Details Get a Quote |
| RPL37 Knockout A-549 Cell Line | EDJ-KQ62849 | Human | 6167 | Details Get a Quote |
| RPL37 Knockout HCT 116 Cell Line | EDJ-KQ71315 | Human | 6167 | Details Get a Quote |
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