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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

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. 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.

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

Regulatory Elements for EFL1 Gene

Enhancers for EFL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G082803 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -545.8 -545849 9.8 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 WHAMM AP3B2 FAM103A1 SCARNA15 EFL1 GOLGA6L9 C15orf40 GC15M082841
GH15G083010 1.1 ENCODE 11 -748.7 -748697 2.8 HDGF CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B FAM103A1 SNHG21 C15orf40 CPEB1 CPEB1-AS1 AP3B2 WHAMM ENSG00000260579 HOMER2 BTBD1
GH15G083204 1 ENCODE 11 -944.0 -944036 4.3 HDGF SIN3A GLI4 ZNF2 ZBTB7B GTF3C2 GLIS2 GATA2 KLF7 FOS WHAMM FAM103A1 C15orf40 EFL1 BTBD1 AP3B2 GOLGA6L9 HDGFL3 ENSG00000259986
GH15G082121 1.3 Ensembl ENCODE dbSUPER 7.7 +139.7 139742 2.6 FOXA2 SIN3A RFX5 RCOR1 FOS CREM NFIL3 ZFP69B GLIS1 CEBPA CSPG4P10 EFL1 GOLGA6L9 GC15P082104 GC15P082150
GH15G082127 1.2 Ensembl ENCODE dbSUPER 8.3 +133.1 133051 3.7 PKNOX1 BHLHE40 SIN3A JUNB MAX CEBPG FOXA1 YY1 JUND ATF3 SAXO2 EFL1 CSPG4P10 MEX3B GOLGA6L9 GOLGA2P10 AP3B2 GC15P082150 GC15P082104
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EFL1 on UCSC Golden Path with GeneCards custom track

Promoters for EFL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080177 63 1801 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF143 ZNF207 FOS

Genomic Location for EFL1 Gene

Chromosome:
15
Start:
82,130,220 bp from pter
End:
82,262,763 bp from pter
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).
    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

Antibody Products

  • Abcam antibodies for EFL1

No data available for DME Specific Peptides for EFL1 Gene

Domains & Families for EFL1 Gene

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

No data available for Gene Families for EFL1 Gene

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.

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

Animal Model Products

miRNA for EFL1 Gene

miRTarBase miRNAs that target EFL1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

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
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, Target 40
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
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with EFL1: view

Transcripts for EFL1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Evidence on tissue expression from TISSUES for EFL1 Gene

  • Nervous system(4.4)
No Expression Related Data Available

Primer Products

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 , mRNA Expression by UniProt/SwissProt 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 35
  • 99.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
dog
(Canis familiaris)
Mammalia EFTUD1 34 35
  • 89.35 (n)
cow
(Bos Taurus)
Mammalia EFTUD1 34 35
  • 88.1 (n)
rat
(Rattus norvegicus)
Mammalia Eftud1 34
  • 88.03 (n)
mouse
(Mus musculus)
Mammalia Eftud1 34 35
  • 87.85 (n)
Efl1 16
oppossum
(Monodelphis domestica)
Mammalia EFTUD1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFTUD1 34 35
  • 74.96 (n)
lizard
(Anolis carolinensis)
Reptilia EFTUD1 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eftud1 34
  • 72.07 (n)
Str.18864 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6773 34
zebrafish
(Danio rerio)
Actinopterygii EFTUD1 35
  • 70 (a)
OneToOne
eftud1 34
  • 66 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG33158 34 35
  • 54.19 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003001 34
  • 52.56 (n)
worm
(Caenorhabditis elegans)
Secernentea K10C3.5 35
  • 38 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D07898g 34
  • 54.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIA1 34 35 37
  • 53.62 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR031C 34
  • 52.42 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G22980 34
  • 52.59 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2227 34
rice
(Oryza sativa)
Liliopsida Os03g0650700 34
  • 50.88 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC553.08c 34
  • 53.39 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06278 34
  • 50.81 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6799 34
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)

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 Sequence Context AA Info Type
rs1000021396 -- 82,212,348(+) AGTAT(C/T)AGTAA intron-variant
rs1000022419 -- 82,136,766(+) AAATT(A/T)CTACC intron-variant
rs1000027458 -- 82,185,359(+) ACTAT(-/TAAATAAAA)TTAAA intron-variant
rs1000072581 -- 82,218,777(+) GCAGC(A/T)CTGCA intron-variant
rs1000128691 -- 82,182,361(+) TTTGG(C/T)GTGAG intron-variant

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

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

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)

Relevant External Links for EFL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFL1

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

Disorders for EFL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EFL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
shwachman-diamond syndrome
  • pancreatic insufficiency and bone marrow dysfunction
- elite association - COSMIC cancer census association via MalaCards
Search EFL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EFL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 A.J. … Warren A.J. (Genes Dev. 2011) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3 4 64
  3. Mechanism of eIF6 release from the nascent 60S ribosomal subunit. (PMID: 26479198) Weis F. … Warren A.J. (Nat. Struct. Mol. Biol. 2015) 3 4 64
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for EFL1 Gene

Sources for EFL1 Gene

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