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Aliases for EFL1 Gene

Aliases for EFL1 Gene

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

Promoters for EFL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EFL1 on UCSC Golden Path with GeneCards custom track

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.
    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

Proteomics data for EFL1 Gene at MOPED

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

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 :
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family.
Domain:
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
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:0005525 GTP binding IEA --
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

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS 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 NOT translation IBA --
genes like me logo Genes that share ontologies with EFL1: view

Drugs & Compounds for EFL1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0
(3ALPHA,5BETA,12ALPHA)-3,12-DIHYDROXYCHOLAN-24-OIC ACID Experimental Pharma Target 0
S-(Methylmercury)-L-Cysteine Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma 0

(2) 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
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with EFL1: view

Transcripts for EFL1 Gene

mRNA/cDNA for EFL1 Gene

(7) REFSEQ mRNAs :
(2) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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

No Expression Related Data Available

In Situ Assay 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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia EFTUD1 35
  • 88.1 (n)
  • 92.59 (a)
EFTUD1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFTUD1 35
  • 89.35 (n)
  • 92.59 (a)
EFTUD1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eftud1 35
  • 87.85 (n)
  • 90.88 (a)
Efl1 16
Eftud1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EFTUD1 35
  • 99.46 (n)
  • 99.37 (a)
EFTUD1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eftud1 35
  • 88.03 (n)
  • 90.62 (a)
oppossum
(Monodelphis domestica)
Mammalia EFTUD1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 78 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
chicken
(Gallus gallus)
Aves EFTUD1 35
  • 74.96 (n)
  • 79.59 (a)
EFTUD1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFTUD1 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eftud1 35
  • 72.07 (n)
  • 75.65 (a)
Str.18864 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.6773 35
zebrafish
(Danio rerio)
Actinopterygii eftud1 35
  • 66 (n)
  • 71.21 (a)
EFTUD1 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003001 35
  • 52.56 (n)
  • 51.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG33158 35
  • 54.19 (n)
  • 50.4 (a)
CG33158 36
  • 47 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K10C3.5 36
  • 38 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR031C 35
  • 52.42 (n)
  • 49.41 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D07898g 35
  • 54.76 (n)
  • 49.13 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIA1 35
  • 53.62 (n)
  • 49.14 (a)
RIA1 36
  • 40 (a)
OneToOne
RIA1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G22980 35
  • 52.59 (n)
  • 47.31 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2227 35
rice
(Oryza sativa)
Liliopsida Os03g0650700 35
  • 50.88 (n)
  • 45.53 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6799 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06278 35
  • 50.81 (n)
  • 45.96 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC553.08c 35
  • 53.39 (n)
  • 47.68 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for EFL1:
  • 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
rs2292189 - 82,220,088(-) GGAGA(C/G)GAGCC nc-transcript-variant, reference, missense
rs1128431 - 82,163,886(-) CTCCT(A/C/G)TTGTG nc-transcript-variant, reference, missense
rs2292071 - 82,152,322(+) GCTGT(C/T)TGCCT nc-transcript-variant, reference, missense
rs4725 -- 82,151,598(-) ACTGA(C/G/T)TGCTA nc-transcript-variant, reference, synonymous-codon
rs905450 -- 82,152,096(+) TTTTC(A/G)CCCTC nc-transcript-variant, reference, synonymous-codon

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

HapMap Linkage Disequilibrium report
EFL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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
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 67
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 3
  3. 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
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for EFL1 Gene

Sources for EFL1 Gene

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