| Name | elongation factor like GTPase 1 |
| Description | Enables GTPase activity and ribosome binding activity. Involved in GTP metabolic process and cytosolic ribosome assembly. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytosol. Implicated in Shwachman-Diamond syndrome. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Elongation factor-like 1 (EFL1) is an evolutionarily conserved GTPase that plays a critical role in the final cytoplasmic maturation of the 60S ribosomal subunit by catalyzing the release of the anti‐association factor eIF6. This removal, which is essential for converting nascent ribosomal subunits into actively translating ribosomes, depends on EFL1’s ability to bind and hydrolyze GTP. EFL1 functions in close cooperation with the Shwachman–Bodian–Diamond syndrome (SBDS) protein; together, they ensure that GTP hydrolysis is tightly coupled to conformational rearrangements within the ribosome that displace eIF6, thereby “activating” the ribosome for translation. Structural and biochemical studies have revealed that this cooperative mechanism involves dynamic rearrangements of EFL1 that mimic aspects of ribosomal translocation during elongation, and mutations in EFL1 that impair these conformational transitions lead to defects in ribosome maturation associated with Shwachman–Diamond syndrome. Moreover, kinetic analyses indicate that EFL1 normally exhibits a two‐step binding mechanism for guanine nucleotides and that SBDS can modulate nucleotide exchange to favor activation of EFL1, underscoring its pivotal regulatory role. In yeast, similar functional characteristics have been observed, further establishing the conservation of EFL1’s role in facilitating the release of eIF6 as a prerequisite for efficient subunit joining and productive translation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Andrew J Finch, Christine Hilcenko, Nicolas Basse, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Dev (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/gad.623011"}], "href": "https://doi.org/10.1101/gad.623011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21536732"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21536732"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Félix Weis, Emmanuel Giudice, Mark Churcher, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mechanism of eIF6 release from the nascent 60S ribosomal subunit."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Struct Mol Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nsmb.3112"}], "href": "https://doi.org/10.1038/nsmb.3112"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26479198"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26479198"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Shengjiang Tan, Laëtitia Kermasson, Angela Hoslin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood.2018893404"}], "href": "https://doi.org/10.1182/blood.2018893404"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31151987"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31151987"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Adrián García-Márquez, Abril Gijsbers, Eugenio de la Mora, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M114.626275"}], "href": "https://doi.org/10.1074/jbc.M114.626275"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25991726"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25991726"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "B Senger, D L Lafontaine, J S Graindorge, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The nucle(ol)ar Tif6p and Efl1p are required for a late cytoplasmic step of ribosome synthesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s1097-2765(01)00403-8"}], "href": "https://doi.org/10.1016/s1097-2765(01"}, {"type": "t", "text": "00403-8) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11779510"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11779510"}]}]}]}
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| NCBI Gene ID | 79631 |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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EFL1 has 1,464 functional associations with biological entities spanning 6 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 36 datasets.
Click the + buttons to view associations for EFL1 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of EFL1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of EFL1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with EFL1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of EFL1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| CM4AI U2OS Cell Map Protein Localization Assemblies | assemblies containing EFL1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing EFL1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with EFL1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of EFL1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving EFL1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with EFL1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with EFL1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with EFL1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving EFL1 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by EFL1 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of EFL1 gene from the GTEx eQTL 2025 dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with EFL1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of EFL1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of EFL1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| KEGG Pathways 2026 | pathways involving EFL1 protein from the KEGG Pathways 2026 dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by EFL1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of EFL1 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving EFL1 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving EFL1 protein from the Wikipathways PFOCR 2024 dataset. | |
| Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of EFL1 gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of EFL1 gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of EFL1 gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of EFL1 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of EFL1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of EFL1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with EFL1 protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of EFL1 gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of EFL1 gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of EFL1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of EFL1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with EFL1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving EFL1 protein from the WikiPathways Pathways 2024 dataset. | |
