Target intelligence / Profile preview

Elongation factor-like GTPase 1 (EFL1)

Target
EFL1
Molecular classification
Enzyme (GTPase), Ribosome biogenesis protein, Ribonucleoprotein complex component, Ribosome assembly factor
01

Overview

Elongation factor-like GTPase 1 (EFL1) is an essential cytosolic protein that catalyzes GTP hydrolysis and is crucial for the final maturation step of the 60S ribosomal subunit. Working in concert with the SBDS protein, EFL1 mediates the release of the ribosome anti-association factor eIF6 from pre-60S subunits, enabling functional 80S ribosome assembly and protein synthesis. Loss-of-function mutations in EFL1 result in Shwachman-Diamond syndrome, characterized by bone marrow failure, pancreatic insufficiency, and increased risk of hematologic malignancy. EFL1 is highly conserved across eukaryotes, belongs to the ribosome biogenesis/assembly protein family, and plays no direct known role in drug pharmacology or as a drug target as of 2025[2][3][4][5].

Other names
EFTUD1FAM42ARIA1HsT19294FLJ13119Protein FAM42AElongation factor Tu GTP-binding domain-containing protein 1Ribosome assembly 1 homolog (yeast), SDS2
02

Mechanism of action

Not applicable (no drugs known targeting EFL1 specifically). Theoretically, inhibition or modulation of EFL1 would impair ribosome assembly and protein synthesis, which may be undesirable in most contexts due to essential cellular functions[2].

03

Biological functions

Ribosome biogenesis (specifically 60S subunit maturation)GTP hydrolysisRelease of eIF6 from 60S ribosomal subunitActivation of protein translation
04

Disease associations

Shwachman-Diamond syndrome (SDS), a ribosomopathy characterized by bone marrow failure and predisposition to hematologic malignanciesOther possible links: genetic causes of porto-sinusoidal vascular diseaseLeukemia predisposition disorderRibosomal disorders (“ribosomopathies”)
05

Safety considerations

Therapeutic targeting of EFL1 is likely unsafe due to its essential role in cell viability; loss-of-function mutations cause serious bone marrow failure and predispose to cancerAny pharmacologic inhibition could lead to global translational defects, cytopenias, and impaired cell proliferation.
06

Biomarkers

Mutations in EFL1 serve as genetic biomarkers for Shwachman-Diamond syndromeLevels of eIF6 and its ribosomal localization patterns may act as mechanistic biomarkers in research settingsRibosomal subunit ratios (60S:80S) in cells—used experimentally for diagnosis and functional studies

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