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Article

Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.

Protein science : a publication of the Protein Society - 1 Apr 2026

Zúñiga-Domínguez Jonathan A, Jain Rohit, González-Andrade Martín, Farquhar Erik R, Chance Mark R, Gijsbers Abril, Sánchez-Puig Nuria

Abstract excerpt

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder characterized by pancreatic insufficiency and neutropenia. While most cases are linked to mutations in the SBDS gene, some involve mutations in the GTPase EFL1. This protein works with SBDS to release the anti-association factor eIF6 from the 60S ribosomal subunit during ribosome biogenesis. The pathogenic EFL1 R1095Q mutant (R1086Q in yeast) exhibits...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Peptide Elongation Factors

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Share to Ribonucleoprotein, U5 Small Nuclear

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Source

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Identifiers

PMID: 41848393
DOI: 10.1002/pro.70504
PMCID: PMC13140721

Genes

EFL1
SBDS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.PMID 41848393Read ↗

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.Semantic proximity Read ↗

Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome.Semantic proximity Read ↗

Dynamic states of eIF6 and SDS variants modulate interactions with uL14 of the 60S ribosomal subunitSemantic proximity Read ↗

Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.Semantic proximity Read ↗

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndromeSemantic proximity Read ↗

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.Semantic proximity Read ↗

Site-specific labeling of SBDS to monitor interactions with the 60S ribosomal subunit.Semantic proximity Read ↗

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast.Semantic proximity Read ↗

DPH1 Gene Mutations Identify a Candidate SAM Pocket in Radical Enzyme Dph1•Dph2 for Diphthamide Synthesis on EF2.Semantic proximity Read ↗

A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.Semantic proximity Read ↗

<em>DPH1 </em>Gene Mutations Identify a Candidate SAM Pocket in Radical Enzyme Dph1•Dph2 for Diphthamide Synthesis on EF2Semantic proximity Read ↗

The yeast ribosome synthesis factor Emg1 is a novel member of the superfamily of alpha/beta knot fold methyltransferases.Semantic proximity Read ↗

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