RPL39L

Ribosomal Protein L39 Like

Gene Information Card

Symbol RPL39L
Full Name Ribosomal Protein L39 Like
Gene Type protein-coding
Chromosomal Location 3q27.3
NCBI Gene ID 116517 ncbi.nlm.nih.gov/gene/116517
Ensembl ID ENSG00000163923
UniProt ID Q96EH5
OMIM ID 617951
HGNC ID 16628
Aliases L39-2, RPL39_2_1041

Description

RPL39L encodes a ribosomal protein that is a component of the 60S ribosomal subunit. This gene is a paralog of RPL39 and is involved in ribosome biogenesis and protein synthesis. RPL39L expression is enriched in testis and certain cancers, suggesting a role in specialized translation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various) Overexpression of RPL39L in tumors may alter ribosome composition and promote translation of oncogenic mRNAs. COSMIC; PMID: 25691885
Male infertility Reduced RPL39L expression in testis may impair spermatogenesis. UniProt; PMID: 22922874

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 38.2 High
Brain 1.5 Low
Liver 0.8 Not detected
Heart 0.6 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK293 12.3 Moderate expression
HeLa 8.7 Moderate expression
K562 2.1 Low expression
MCF7 15.4 High expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.94C>T (p.Arg32Cys) Missense 0.01% (gnomAD) Unknown functional impact
c.148G>A (p.Gly50Ser) Missense 0.005% (gnomAD) Unknown functional impact
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 for dominant-negative effects.

Gene Ontology (GO)

• structural constituent of ribosome • ribosome biogenesis
• translation • cytoplasmic translation
• ribosomal large subunit assembly

Pathways

Eukaryotic Translation Elongation
Ribosome (KEGG hsa03010)

Protein Summary

RPL39L is a 51-amino acid protein that belongs to the L39E family of ribosomal proteins. It localizes to the large ribosomal subunit and is thought to play a role in translational regulation. The protein shares high sequence similarity with RPL39 but shows tissue-specific expression, particularly in testis and certain cancers.

Related Products

Product name Cat.No. Species Gene ID
RPL39L Knockout HEK293 Cell Line EDJ-KQ6917 Human 116832 Details Get a Quote
RPL39L Knockout A-549 Cell Line EDJ-KQ32896 Human 116832 Details Get a Quote
RPL39L Knockout HeLa Cell Line EDJ-KQ32898 Human 116832 Details Get a Quote
RPL39L Knockout HCT 116 Cell Line EDJ-KQ74907 Human 116832 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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