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.

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 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
Displaying Records 1 To 8 Of 8 Records
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