Identity
HGNC
LOCATION
15q25.2
LOCUSID
ALIAS
EFTUD1,FAM42A,HsT19294,RIA1,SDS2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79631
MIM: 617538
HGNC: 25789
Ensembl: ENSG00000140598
Variants:
dbSNP: 79631
ClinVar: 79631
TCGA: ENSG00000140598
COSMIC: EFL1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Ribosome biogenesis in eukaryotes | KEGG | ko03008 |
| Ribosome biogenesis in eukaryotes | KEGG | hsa03008 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34115847 | 2021 | Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. | 9 |
| 34115847 | 2021 | Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. | 9 |
| 31838967 | 2020 | Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics. | 3 |
| 31838967 | 2020 | Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics. | 3 |
| 30198570 | 2019 | Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations. | 9 |
| 31151987 | 2019 | EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome. | 27 |
| 30198570 | 2019 | Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations. | 9 |
| 31151987 | 2019 | EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome. | 27 |
| 30545121 | 2018 | Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations. | 7 |
| 30545121 | 2018 | Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations. | 7 |
| 28331068 | 2017 | Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome. | 54 |
| 28331068 | 2017 | Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome. | 54 |
| 25991726 | 2015 | Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein. | 8 |
| 26479198 | 2015 | Mechanism of eIF6 release from the nascent 60S ribosomal subunit. | 107 |
| 25991726 | 2015 | Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein. | 8 |
Citation
Dessen P
EFL1 (elongation factor like GTPase 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-01-01
Online version: http://atlasgeneticsoncology.org/gene/55587
