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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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OSGEPL1
O-sialoglycoprotein endopeptidase like 1
Chromosome 2 · 2q32.2
NCBI Gene: 64172Ensembl: ENSG00000128694.13HGNC: HGNC:23075UniProt: Q9H4B0
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondriontRNA N(6)-L-threonylcarbamoyladenine synthase activitytRNA threonylcarbamoyladenosine modificationmitochondrial tRNA modificationneurodegenerative diseasehepatocellular carcinomametabolic diseaseopen-angle glaucoma
✦AI Summary

OSGEPL1 is a mitochondrial acyltransferase essential for synthesizing threonylcarbamoyladenosine (t6A37), a universal tRNA modification at position 37 of adenosine-decoding tRNAs 1. OSGEPL1 catalyzes transfer of the threonylcarbamoyl moiety from threonylcarbamoyl-AMP (TC-AMP), synthesized by YrdC, to five mitochondrial tRNAs including tRNAThr, tRNALys, tRNAIle, and tRNASer 2. The enzyme recognizes specific tRNA nucleotide sequences, utilizing C34 as an anti-determinant, and its activity is modulated by post-translational acetylation and CO2/bicarbonate availability 12. t6A37 modification stabilizes anticodon stem-loop structure and maintains translational accuracy 3. OSGEPL1 deletion impairs mitochondrial tRNA aminoacylation and causes codon misreading, triggering mitochondrial dysfunction and unfolded protein response, though remaining non-essential for baseline viability 4. Dysregulation associates with multiple pathologies including cancer (high OSGEPL1 expression predicts favorable ovarian cancer prognosis), neurodegenerative disease (FXTAS modifier), and lung transplant complications 567. OSGEPL1 mutations cause mitochondrial disease with translational defects 2.

Sources cited
1
OSGEPL1 transfers TC-moiety to five mitochondrial tRNAs; recognition mechanism uses C34 as anti-determinant; activity affected by acetylation
PMID: 32047918
2
OSGEPL1 and YRDC catalyze t6A37 formation; CO2/bicarbonate is rate-limiting; low t6A37 in MERRF patient cells; OSGEPL1-knockout causes respiratory defects
PMID: 29760464
3
OSGEPL1 deletion causes t6A37 hypomodification, reduced tRNA aminoacylation, translational infidelity, and mitochondrial dysfunction
PMID: 38227555
4
t6A stabilizes anticodon stem-loop, promotes codon pairing, safeguards translational fidelity; OSGEPL1 functions alone in mitochondria
PMID: 36362385
5
High OSGEPL1 expression is favorable prognostic factor for high-grade serous ovarian cancer; identified as predictive biomarker for chemoresistance
PMID: 38262243
6
OSGEPL1 identified as genetic modifier of CGG-associated neurodegeneration in Fragile X-associated tremor/ataxia syndrome
PMID: 35617426
7
OSGEPL1 identified as hub mitochondrial gene downregulated in ex vivo lung perfusion and ischemia-reperfusion injury
PMID: 39549776
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.33Weak
hepatocellular carcinomaOpen Targets
0.07Suggestive
metabolic diseaseOpen Targets
0.03Suggestive
glaucomaOpen Targets
0.02Suggestive
open-angle glaucomaOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
hypertrophic cardiomyopathyOpen Targets
0.02Suggestive
multiple myelomaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
liver cancerOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.00Suggestive
MERRFOpen Targets
0.00Suggestive
myoclonic epilepsyOpen Targets
0.00Suggestive
cervical carcinomaOpen Targets
0.00Suggestive
major depressive disorderOpen Targets
0.00Suggestive
nervous system diseaseOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TP53RKProtein interaction96%ANKARProtein interaction93%LAGE3Protein interaction90%ACP1Protein interaction82%YRDCProtein interaction81%TPRKBProtein interaction73%
Tissue Expression6 tissues
Heart
100%
Ovary
84%
Liver
58%
Brain
48%
Lung
33%
Bone Marrow
21%
Gene Interaction Network
Click a node to explore
OSGEPL1TP53RKANKARLAGE3ACP1YRDCTPRKB
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9H4B0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.48–0.94]
RankingsWhere OSGEPL1 stands among ~20K protein-coding genes
  • #14,764of 20,598
    Most Researched18
  • #8,809of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedOSGEPL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Molecular basis for t6A modification in human mitochondria.
PMID: 32047918
Nucleic Acids Res · 2020
1.00
2
5-Hydroxymethylcytosine signals in serum are a predictor of chemoresistance in high-grade serous ovarian cancer.
PMID: 38262243
Gynecol Oncol · 2024
0.90
3
Multifaceted roles of t6A biogenesis in efficiency and fidelity of mitochondrial gene expression.
PMID: 38227555
Nucleic Acids Res · 2024
0.80
4
Conservation and Diversification of tRNA t
PMID: 36362385
Int J Mol Sci · 2022
0.70
5
CO
PMID: 29760464
Nat Commun · 2018
0.60