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Aliases for EFL1 Gene

Aliases for EFL1 Gene

  • Elongation Factor Like GTPase 1 2 3 5
  • Elongation Factor Tu GTP-Binding Domain-Containing Protein 1 3 4
  • Elongation Factor Tu GTP Binding Domain Containing 1 2 3
  • Elongation Factor-Like 1 3 4
  • EFTUD1 3 4
  • FAM42A 3 4
  • Ribosome Assembly 1 Homolog (Yeast) 2
  • Elongation Factor-Like GTPase 1 3
  • Ribosome Assembly 1 Homolog 3
  • Protein FAM42A 4
  • HsT19294 3
  • RIA1 3
  • SDS2 3

External Ids for EFL1 Gene

Previous HGNC Symbols for EFL1 Gene

  • EFTUD1

Summaries for EFL1 Gene

GeneCards Summary for EFL1 Gene

EFL1 (Elongation Factor Like GTPase 1) is a Protein Coding gene. Diseases associated with EFL1 include Shwachman-Diamond Syndrome 2 and Shwachman-Diamond Syndrome 1. Among its related pathways are Ribosome biogenesis in eukaryotes.

UniProtKB/Swiss-Prot for EFL1 Gene

  • Involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Has low intrinsic GTPase activity. GTPase activity is increased by contact with 60S ribosome subunits.

Additional gene information for EFL1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFL1 Gene

Genomics for EFL1 Gene

GeneHancer (GH) Regulatory Elements for EFL1 Gene

Promoters and enhancers for EFL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J082260 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.4 409 3.1 HDGF PKNOX1 CLOCK FOXA2 MLX ARID4B NEUROD1 SIN3A DMAP1 YY1 SAXO2 EFL1 CSPG4P10 HDGFL3 CPEB1 AP3B2 GC15M082251
GH15J083010 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.9 -748.7 -748697 2.8 HDGF CLOCK ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B C15orf40 HOMER2 PIR34182 GC15M083024 ENSG00000260608 RAMMET WHAMM EFL1 ENSG00000260579 BTBD1
GH15J082803 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 -545.8 -545849 9.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 WHAMM FSD2 AP3B2 RAMMET SCARNA15 ENSG00000252690 EFL1 GOLGA6L9 C15orf40 GC15M082841
GH15J082749 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.7 -488.1 -488073 3.3 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SNHG21 WHAMM AP3B2 FSD2 EFL1 HOMER2 C15orf40 HDGFL3 GOLGA6L10 ENSG00000252690
GH15J083204 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11 -944.0 -944035 4.3 HDGF SIN3A GLI4 ZNF2 ZBTB7B YY1 GTF3C2 GLIS2 ZNF213 KLF7 HDGFL3 WHAMM C15orf40 RAMMET RPL9P9 GOLGA6L9 EFL1 CSPG4P11 BTBD1 FABP5P8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EFL1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EFL1 Gene

Genomic Locations for EFL1 Gene
chr15:82,130,220-82,262,763
(GRCh38/hg38)
Size:
132,544 bases
Orientation:
Minus strand
chr15:82,422,561-82,555,104
(GRCh37/hg19)
Size:
132,544 bases
Orientation:
Minus strand

Genomic View for EFL1 Gene

Genes around EFL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFL1 Gene

Proteins for EFL1 Gene

  • Protein details for EFL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z2Z2-EFL1_HUMAN
    Recommended name:
    Elongation factor-like GTPase 1
    Protein Accession:
    Q7Z2Z2
    Secondary Accessions:
    • A6NKY5
    • B7Z6I0
    • Q9H8Z6

    Protein attributes for EFL1 Gene

    Size:
    1120 amino acids
    Molecular mass:
    125430 Da
    Quaternary structure:
    • Associates with the 60S ribosomal subunit (PubMed:21536732). Found in a complex consisting of the 60S ribosomal subunit, SBDS and EFL1 (PubMed:22814378). Interacts with SBDS and binds to GTP and GDP; the interaction with SBDS decreases EFL1 affinity for GDP and facilitates GDP release (PubMed:25991726).
    SequenceCaution:
    • Sequence=BAB14450.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EFL1 Gene

    Alternative splice isoforms for EFL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFL1 Gene

Post-translational modifications for EFL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EFL1 Gene

Domains & Families for EFL1 Gene

Gene Families for EFL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EFL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z2Z2

UniProtKB/Swiss-Prot:

EFL1_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family.
genes like me logo Genes that share domains with EFL1: view

Function for EFL1 Gene

Molecular function for EFL1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Has low intrinsic GTPase activity. GTPase activity is increased by contact with 60S ribosome subunits.

Phenotypes From GWAS Catalog for EFL1 Gene

Gene Ontology (GO) - Molecular Function for EFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003746 translation elongation factor activity IEA --
GO:0003924 GTPase activity IDA,IEA 21536732
GO:0005525 GTP binding IEA --
GO:0043022 ribosome binding IMP 21536732
genes like me logo Genes that share ontologies with EFL1: view
genes like me logo Genes that share phenotypes with EFL1: view

Human Phenotype Ontology for EFL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for EFL1 Gene

miRTarBase miRNAs that target EFL1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EFL1 Gene

Localization for EFL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EFL1 gene
Compartment Confidence
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EFL1 Gene

Pathways & Interactions for EFL1 Gene

genes like me logo Genes that share pathways with EFL1: view

Pathways by source for EFL1 Gene

1 KEGG pathway for EFL1 Gene

SIGNOR curated interactions for EFL1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for EFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006414 translational elongation IEA --
GO:0042254 ribosome biogenesis IEA --
GO:0042256 mature ribosome assembly IMP 21536732
GO:0046039 GTP metabolic process IDA 21536732
genes like me logo Genes that share ontologies with EFL1: view

Drugs & Compounds for EFL1 Gene

(5) Drugs for EFL1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
deoxycholic acid Approved Pharma Antagonist, Full agonist, Agonist, Target 43
Water Approved Pharma 0
Guanosine diphosphate Experimental Pharma Target 0
S-(Methylmercury)-L-Cysteine Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for EFL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with EFL1: view

Transcripts for EFL1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFL1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFL1 Gene

No ASD Table

Relevant External Links for EFL1 Gene

GeneLoc Exon Structure for
EFL1
ECgene alternative splicing isoforms for
EFL1

Expression for EFL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EFL1 Gene:

EFL1

mRNA Expression by UniProt/SwissProt for EFL1 Gene:

Q7Z2Z2-EFL1_HUMAN
Tissue specificity: Expressed at low levels in brain. Expression is highly increased in glioma tissues.

Evidence on tissue expression from TISSUES for EFL1 Gene

  • Nervous system(4.4)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFL1 Gene

Orthologs for EFL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EFL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFTUD1 34 33
  • 99.46 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
dog
(Canis familiaris)
Mammalia EFTUD1 34 33
  • 89.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EFTUD1 34 33
  • 88.1 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eftud1 33
  • 88.03 (n)
mouse
(Mus musculus)
Mammalia Eftud1 34 33
  • 87.85 (n)
OneToOne
Efl1 16
oppossum
(Monodelphis domestica)
Mammalia EFTUD1 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFTUD1 34 33
  • 74.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFTUD1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eftud1 33
  • 72.07 (n)
Str.18864 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6773 33
zebrafish
(Danio rerio)
Actinopterygii EFTUD1 34
  • 70 (a)
OneToOne
eftud1 33
  • 66 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG33158 34 33
  • 54.19 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003001 33
  • 52.56 (n)
worm
(Caenorhabditis elegans)
Secernentea K10C3.5 34
  • 38 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D07898g 33
  • 54.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIA1 36 34 33
  • 53.62 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR031C 33
  • 52.42 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G22980 33
  • 52.59 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2227 33
rice
(Oryza sativa)
Liliopsida Os03g0650700 33
  • 50.88 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC553.08c 33
  • 53.39 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
Cin.6799 33
bread mold
(Neurospora crassa)
Ascomycetes NCU06278 33
  • 50.81 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6799 33
Species where no ortholog for EFL1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EFL1 Gene

ENSEMBL:
Gene Tree for EFL1 (if available)
TreeFam:
Gene Tree for EFL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EFL1: view image

Paralogs for EFL1 Gene

Pseudogenes.org Pseudogenes for EFL1 Gene

genes like me logo Genes that share paralogs with EFL1: view

No data available for Paralogs for EFL1 Gene

Variants for EFL1 Gene

Sequence variations from dbSNP and Humsavar for EFL1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000021396 -- 82,212,348(-) T/C intron_variant
rs1000022419 -- 82,136,766(-) A/T intron_variant
rs1000027458 -- 82,185,359(-) TAAATAAAAT/T intron_variant
rs1000072581 -- 82,218,777(-) T/A intron_variant
rs1000128691 -- 82,182,361(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EFL1 Gene

Variant ID Type Subtype PubMed ID
nsv984099 CNV duplication 23825009
nsv976956 CNV duplication 23825009
nsv833067 CNV gain+loss 17160897
nsv570247 CNV loss 21841781
nsv516603 CNV loss 19592680
nsv457214 CNV loss 19166990
nsv1124715 CNV duplication 24896259
nsv1116091 CNV deletion 24896259
nsv1041506 CNV loss 25217958
nsv1041040 CNV gain 25217958
esv3637053 CNV loss 21293372
esv2422504 CNV duplication 17116639
esv21471 CNV loss 19812545
dgv4682n54 CNV gain 21841781
dgv457e214 CNV gain 21293372
dgv321n27 CNV gain 19166990

Variation tolerance for EFL1 Gene

Residual Variation Intolerance Score: 86.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.91; 93.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFL1 Gene

Human Gene Mutation Database (HGMD)
EFL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFL1 Gene

Disorders for EFL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EFL1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search EFL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EFL1

genes like me logo Genes that share disorders with EFL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EFL1 Gene

Publications for EFL1 Gene

  1. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. (PMID: 21536732) Finch AJ … Warren AJ (Genes & development 2011) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 58
  3. Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein. (PMID: 25991726) García-Márquez A … Sánchez-Puig N (The Journal of biological chemistry 2015) 3 4 58
  4. Mechanism of eIF6 release from the nascent 60S ribosomal subunit. (PMID: 26479198) Weis F … Warren AJ (Nature structural & molecular biology 2015) 3 4 58
  5. Functional analysis of a novel glioma antigen, EFTUD1. (PMID: 25015090) Saito K … Toda M (Neuro-oncology 2014) 3 4 58

Products for EFL1 Gene

Sources for EFL1 Gene

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