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Aliases for EFTUD1 Gene

Aliases for EFTUD1 Gene

  • Elongation Factor Tu GTP Binding Domain Containing 1 2 3
  • 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
  • EFL1 4

External Ids for EFTUD1 Gene

Previous GeneCards Identifiers for EFTUD1 Gene

  • GC15M080139
  • GC15M080210
  • GC15M082422
  • GC15M059180

Summaries for EFTUD1 Gene

GeneCards Summary for EFTUD1 Gene

EFTUD1 (Elongation Factor Tu GTP Binding Domain Containing 1) is a Protein Coding gene. Diseases associated with EFTUD1 include shwachman-diamond syndrome. Among its related pathways are Ribosome biogenesis in eukaryotes. GO annotations related to this gene include GTP binding and ribosome binding.

UniProtKB/Swiss-Prot for EFTUD1 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 EFTUD1 Gene

Genomics for EFTUD1 Gene

Regulatory Elements for EFTUD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EFTUD1 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 EFTUD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EFTUD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFTUD1 Gene

Proteins for EFTUD1 Gene

  • Protein details for EFTUD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z2Z2-ETUD1_HUMAN
    Recommended name:
    Elongation factor Tu GTP-binding domain-containing protein 1
    Protein Accession:
    Q7Z2Z2
    Secondary Accessions:
    • A6NKY5
    • B7Z6I0
    • Q9H8Z6

    Protein attributes for EFTUD1 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};

    Alternative splice isoforms for EFTUD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFTUD1 Gene

Proteomics data for EFTUD1 Gene at MOPED

Post-translational modifications for EFTUD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFTUD1 Gene

No data available for DME Specific Peptides for EFTUD1 Gene

Domains & Families for EFTUD1 Gene

Suggested Antigen Peptide Sequences for EFTUD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z2Z2

UniProtKB/Swiss-Prot:

ETUD1_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 EFTUD1: view

No data available for Gene Families for EFTUD1 Gene

Function for EFTUD1 Gene

Molecular function for EFTUD1 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 EFTUD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003746 NOT translation elongation factor activity IBA --
GO:0003924 GTPase activity IDA 21536732
GO:0005525 GTP binding IEA --
GO:0043022 ribosome binding IMP 21536732
genes like me logo Genes that share ontologies with EFTUD1: view
genes like me logo Genes that share phenotypes with EFTUD1: view

Animal Model Products

CRISPR Products

miRNA for EFTUD1 Gene

miRTarBase miRNAs that target EFTUD1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EFTUD1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EFTUD1 Gene

Localization for EFTUD1 Gene

Gene Ontology (GO) - Cellular Components for EFTUD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
genes like me logo Genes that share ontologies with EFTUD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for EFTUD1 Gene

Pathways & Interactions for EFTUD1 Gene

genes like me logo Genes that share pathways with EFTUD1: view

Pathways by source for EFTUD1 Gene

1 KEGG pathway for EFTUD1 Gene

SIGNOR curated interactions for EFTUD1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for EFTUD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006414 NOT translational elongation IBA --
GO:0008152 metabolic process --
GO:0042256 mature ribosome assembly IMP 21536732
genes like me logo Genes that share ontologies with EFTUD1: view

Drugs & Compounds for EFTUD1 Gene

(4) Drugs for EFTUD1 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 EFTUD1 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 EFTUD1: view

Transcripts for EFTUD1 Gene

mRNA/cDNA for EFTUD1 Gene

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

Unigene Clusters for EFTUD1 Gene

Elongation factor Tu GTP binding domain containing 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EFTUD1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFTUD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22
SP1: - -
SP2:
SP3:

Relevant External Links for EFTUD1 Gene

GeneLoc Exon Structure for
EFTUD1
ECgene alternative splicing isoforms for
EFTUD1

Expression for EFTUD1 Gene

mRNA expression in normal human tissues for EFTUD1 Gene

Protein differential expression in normal tissues from HIPED for EFTUD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.3), Urine (8.0), and Lymph node (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EFTUD1 Gene



SOURCE GeneReport for Unigene cluster for EFTUD1 Gene Hs.459114

genes like me logo Genes that share expression patterns with EFTUD1: view

Protein tissue co-expression partners for EFTUD1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EFTUD1 Gene

Orthologs for EFTUD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EFTUD1 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)
Eftud1 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 EFTUD1:
  • 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 EFTUD1 Gene

ENSEMBL:
Gene Tree for EFTUD1 (if available)
TreeFam:
Gene Tree for EFTUD1 (if available)

Paralogs for EFTUD1 Gene

Pseudogenes.org Pseudogenes for EFTUD1 Gene

genes like me logo Genes that share paralogs with EFTUD1: view

No data available for Paralogs for EFTUD1 Gene

Variants for EFTUD1 Gene

Sequence variations from dbSNP and Humsavar for EFTUD1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs4725 -- 82,151,598(-) ACTGA(C/G/T)TGCTA reference, missense, synonymous-codon, nc-transcript-variant
rs867370 -- 82,145,921(-) TGGTA(A/T)TAACC intron-variant
rs867371 -- 82,146,005(-) CCTGC(A/T)TGTCA intron-variant
rs881308 -- 82,183,456(-) TGCCC(C/T)TAAGT intron-variant
rs905450 -- 82,152,096(+) TTTTC(A/G)CCCTC synonymous-codon, reference, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for EFTUD1 Gene

Variant ID Type Subtype PubMed ID
nsv833067 CNV Gain+Loss 17160897
esv2422504 CNV Duplication 17116639
dgv321n27 CNV Gain 19166990
esv21471 CNV Loss 19812545
dgv2427n71 CNV Gain 21882294
nsv457214 CNV Loss 19166990
nsv516603 CNV Loss 19592680
nsv904442 CNV Loss 21882294
nsv904443 CNV Loss 21882294

Variation tolerance for EFTUD1 Gene

Residual Variation Intolerance Score: 86.33% 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 EFTUD1 Gene

HapMap Linkage Disequilibrium report
EFTUD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFTUD1 Gene

Disorders for EFTUD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EFTUD1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
shwachman-diamond syndrome
  • shwachman syndrome
- elite association

Relevant External Links for EFTUD1

Genetic Association Database (GAD)
EFTUD1
Human Genome Epidemiology (HuGE) Navigator
EFTUD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFTUD1
genes like me logo Genes that share disorders with EFTUD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EFTUD1 Gene

Publications for EFTUD1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  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) 67
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67
  5. Functional analysis of a novel glioma antigen, EFTUD1. (PMID: 25015090) Saito K. … Toda M. (Neuro-oncology 2014) 67

Products for EFTUD1 Gene

Sources for EFTUD1 Gene

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