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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RPL10L
ribosomal protein L10 like
Chromosome 14 · 14q21.2
NCBI Gene: 140801Ensembl: ENSG00000165496.5HGNC: HGNC:17976UniProt: Q96L21
52PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
structural constituent of ribosomespermatogenesisnucleusribosomespermatogenic failure 63influenzamale infertility with azoospermia or oligozoospermia due to single gene mutationcentral nervous system cancer
✦AI Summary

RPL10L (ribosomal protein L10 like) is a testis-specific ribosomal protein component derived from retrotransposition of the X-linked RPL10 gene 1. During male spermatogenesis, RPL10L compensates for the transcriptional inactivation of RPL10 through meiotic sex chromosome 14 (MSCI), enabling the transition from prophase to metaphase during meiosis I 2. As a structural component of the male germ cell-specific ribosome, RPL10L regulates biosynthesis and folding of male germ cell-specific proteins essential for sperm formation, with distinct ribosomal properties compared to somatic ribosomes 3. Loss-of-function mutations in RPL10L cause severe male infertility phenotypes. Homozygous missense mutations impair protein stability and associate with severe oligozoospermia, while biallelic variants have been identified in azoospermia patients 45. RPL10L expression is conserved across species in male germ cells 6. Beyond reproductive function, RPL10L has been implicated as a prognostic biomarker in liposarcoma pathogenesis 7. These findings establish RPL10L as critical for male fertility through its compensatory role in meiotic ribosome function and identify mutations as a novel cause of heritable male factor infertility.

Sources cited
1
RPL10L is a retrotransposed autosomal copy of X-linked RPL10 with testis-specific expression
PMID: 12490704
2
RPL10L compensates for RPL10 during meiotic sex chromosome inactivation and is required for transition from prophase to metaphase in male meiosis I
PMID: 28502657
3
RPL10L is expressed in a tissue-specific manner with potential variation in ribosome structure
PMID: 24860015
4
Male germ cell-specific expression pattern of RPL10L is conserved between human and other model animals
PMID: 39380204
5
Homozygous missense RPL10L mutations associate with severe oligozoospermia and decreased protein levels
PMID: 32111475
6
Biallelic RPL10L missense substitutions identified in azoospermia patients with pathogenic relevance to male infertility
PMID: 39625557
7
RPL10L identified as hub gene associated with distant recurrence-free survival prognosis in liposarcoma
PMID: 30317246
Disease Associationsⓘ21
spermatogenic failure 63Open Targets
0.50Moderate
influenzaOpen Targets
0.46Moderate
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.39Weak
central nervous system cancerOpen Targets
0.32Weak
aortic diseaseOpen Targets
0.30Weak
response to bronchodilatorOpen Targets
0.30Weak
Spermatogenesis maturation arrestOpen Targets
0.27Weak
smoking initiationOpen Targets
0.25Weak
lower urinary tract calculusOpen Targets
0.23Weak
sleep apneaOpen Targets
0.23Weak
obesityOpen Targets
0.23Weak
breast cancerOpen Targets
0.22Weak
breast neoplasmOpen Targets
0.22Weak
type 2 diabetes mellitusOpen Targets
0.22Weak
Abnormality of the skeletal systemOpen Targets
0.20Weak
post-traumatic stress disorderOpen Targets
0.20Weak
chronic obstructive pulmonary diseaseOpen Targets
0.20Weak
placenta praeviaOpen Targets
0.19Weak
attention deficit hyperactivity disorderOpen Targets
0.19Weak
hypotensionOpen Targets
0.19Weak
Spermatogenic failure 63UniProt
Pathogenic Variants1
NM_080746.3(RPL10L):c.257A>C (p.His86Pro)Likely pathogenic
Spermatogenesis maturation arrest|Spermatogenic failure 63
★☆☆☆2020→ Residue 86
View on ClinVar ↗
Related Genes
RPS9Protein interaction100%RPS23Protein interaction100%RPL13AProtein interaction100%RPL38Protein interaction100%RPL27Protein interaction100%FAUProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
50%
Lung
0%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
RPL10LRPS9RPS23RPL13ARPL38RPL27FAU
PROTEIN STRUCTURE
Preparing viewer…
PDB8QYX · 1.78 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.54–1.36]
RankingsWhere RPL10L stands among ~20K protein-coding genes
  • #8,607of 20,598
    Most Researched52
  • #5,087of 5,498
    Most Pathogenic Variants1
  • #14,206of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedRPL10L
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Functional second genes generated by retrotransposition of the X-linked ribosomal protein genes.
PMID: 12490704
Nucleic Acids Res · 2002
1.00
2
Comprehensive Bioinformatic Analysis Genes Associated to the Prognosis of Liposarcoma.
PMID: 30317246
Med Sci Monit · 2018
0.89
3
Ribosome-omics of the human ribosome.
PMID: 24860015
RNA · 2014
0.78
4
SMARTdb: An Integrated Database for Exploring Single-cell Multi-omics Data of Reproductive Medicine.
PMID: 39380204
Genomics Proteomics Bioinformatics · 2024
0.67
5
A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia.
PMID: 32111475
Fertil Steril · 2020
0.56