RPL32: Ribosomal Protein L32 - A Core Component of the 60S Ribosomal Subunit
Essential for protein synthesis and implicated in ribosomopathies and cancer
Gene Information Card
| Symbol | RPL32 |
|---|---|
| Full Name | Ribosomal Protein L32 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3p25.2 |
| NCBI Gene ID | 6161 ncbi.nlm.nih.gov/gene/6161 |
| Ensembl ID | ENSG00000144713 |
| UniProt ID | P62910 |
| OMIM ID | 180525 |
| HGNC ID | 10336 |
| Aliases | L32, MGC88692 |
Description
RPL32 encodes ribosomal protein L32, a component of the 60S large ribosomal subunit. This protein is essential for ribosome assembly and translation initiation/elongation. RPL32 is ubiquitously expressed and plays a critical role in cellular protein synthesis. Mutations or dysregulation of RPL32 have been linked to Diamond-Blackfan anemia (DBA) and various cancers, including colorectal and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPL32 impair ribosome biogenesis, leading to erythroid progenitor cell apoptosis | ClinVar, OMIM |
| Colorectal cancer | RPL32 overexpression promotes translation of oncogenic mRNAs, enhancing tumor growth | COSMIC, PubMed |
| Breast cancer | RPL32 amplification correlates with poor prognosis and increased proliferation | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 15.2 | Medium |
| Brain cortex | 12.8 | Medium |
| Colon | 18.5 | High |
| Heart muscle | 14.1 | Medium |
| Liver | 20.3 | High |
| Lung | 16.7 | High |
| Pancreas | 13.9 | Medium |
| Skeletal muscle | 11.5 | Medium |
| Spleen | 19.8 | High |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.1 | Cervical cancer cell line |
| MCF7 | 21.3 | Breast cancer cell line |
| HCT116 | 23.8 | Colorectal cancer cell line |
| A549 | 19.6 | Lung cancer cell line |
| K562 | 27.4 | Leukemia cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.95_96delAG | Frameshift deletion | <0.1% | Loss of function; associated with Diamond-Blackfan anemia |
| c.157C>T | Nonsense | <0.1% | Premature stop; loss of function |
| c.3G>A | Missense | <0.1% | p.Met1Ile; start codon loss; loss of function |
| c.214A>G | Missense | 0.2% | p.Thr72Ala; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in RPL32 cause haploinsufficiency, impairing ribosome assembly and leading to Diamond-Blackfan anemia.
Gain of Function (GOF)
Not reported for RPL32.
Dominant Negative (DN)
Not reported for RPL32.
View complete mutation data:
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic large ribosomal subunit (GO:0022625) | • cytoplasmic translation (GO:0002181) |
| • ribosome biogenesis (GO:0042254) |
Pathways
• KEGG hsa03010 - Ribosome
• Reactome R-HSA-156902 - Peptide chain elongation
• Reactome R-HSA-927802 - Nonsense-mediated decay (NMD)
Protein Summary
Ribosomal protein L32 (RPL32) is a 135-amino-acid protein (15.5 kDa) that localizes to the 60S ribosomal subunit. It contains a conserved ribosomal protein L32e domain. RPL32 interacts with rRNA and other ribosomal proteins to stabilize the large subunit structure. Post-translational modifications include N-terminal acetylation. The protein is highly conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL32 Knockout HEK293 Cell Line | EDJ-KQ50582 | Human | 6161 | Details Get a Quote |
| MRPL32 Knockout HEK293 Cell Line | EDJ-KQ51636 | Human | 64983 | Details Get a Quote |
| RPL32 Knockout HeLa Cell Line | EDJ-KQ54350 | Human | 6161 | Details Get a Quote |
| MRPL32 Knockout HeLa Cell Line | EDJ-KQ57097 | Human | 64983 | Details Get a Quote |
| RPL32 Knockout A-549 Cell Line | EDJ-KQ62846 | Human | 6161 | Details Get a Quote |
| MRPL32 Knockout A-549 Cell Line | EDJ-KQ65610 | Human | 64983 | Details Get a Quote |
| RPL32 Knockout HCT 116 Cell Line | EDJ-KQ71312 | Human | 6161 | Details Get a Quote |
| MRPL32 Knockout HCT 116 Cell Line | EDJ-KQ74037 | Human | 64983 | Details Get a Quote |
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