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Aliases for EIF4A3 Gene

Aliases for EIF4A3 Gene

  • Eukaryotic Translation Initiation Factor 4A3 2 3
  • DDX48 3 4 6
  • Eukaryotic Initiation Factor 4A-Like NUK-34 3 4
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 48 2 3
  • ATP-Dependent RNA Helicase EIF4A-3 3 4
  • ATP-Dependent RNA Helicase DDX48 3 4
  • Nuclear Matrix Protein 265 3 4
  • DEAD Box Protein 48 3 4
  • EIF-4A-III 3 4
  • EIF4A-III 3 4
  • HNMP 265 3 4
  • KIAA0111 4 6
  • NMP 265 3 4
  • NMP265 3 6
  • MUK34 3 6
  • RCPS 3 6
  • Eukaryotic Translation Initiation Factor 4A, Isoform 3 2
  • Eukaryotic Translation Initiation Factor 4A Isoform 3 4
  • Eukaryotic Translation Initiation Factor 4A 3
  • Eukaryotic Initiation Factor 4A-III 3
  • EC 3.6.4.13 4
  • EIF4AIII 3
  • EC 3.6.1 63
  • NUK34 3

External Ids for EIF4A3 Gene

Previous HGNC Symbols for EIF4A3 Gene

  • DDX48

Previous GeneCards Identifiers for EIF4A3 Gene

  • GC17M075724
  • GC17M078109
  • GC17M073549

Summaries for EIF4A3 Gene

Entrez Gene Summary for EIF4A3 Gene

  • This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008]

GeneCards Summary for EIF4A3 Gene

EIF4A3 (Eukaryotic Translation Initiation Factor 4A3) is a Protein Coding gene. Diseases associated with EIF4A3 include robin sequence with cleft mandible and limb anomalies and vaginal cancer. Among its related pathways are Translational Control and Interferon Signaling. GO annotations related to this gene include mRNA binding and poly(A) binding. An important paralog of this gene is EIF4A2.

UniProtKB/Swiss-Prot for EIF4A3 Gene

  • ATP-dependent RNA helicase. Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Its RNA-dependent ATPase and RNA-helicase activities are induced by CASC3, but abolished in presence of the MAGOH-RBM8A heterodimer, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The inhibition of ATPase activity by the MAGOH-RBM8A heterodimer increases the RNA-binding affinity of the EJC. Involved in translational enhancement of spliced mRNAs after formation of the 80S ribosome complex. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Shows higher affinity for single-stranded RNA in an ATP-bound core EJC complex than after the ATP is hydrolyzed. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly. Involved in craniofacial development.

Gene Wiki entry for EIF4A3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF4A3 Gene

Genomics for EIF4A3 Gene

Regulatory Elements for EIF4A3 Gene

Genomic Location for EIF4A3 Gene

Start:
80,135,214 bp from pter
End:
80,147,183 bp from pter
Size:
11,970 bases
Orientation:
Minus strand

Genomic View for EIF4A3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EIF4A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF4A3 Gene

Proteins for EIF4A3 Gene

  • Protein details for EIF4A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P38919-IF4A3_HUMAN
    Recommended name:
    Eukaryotic initiation factor 4A-III
    Protein Accession:
    P38919
    Secondary Accessions:
    • Q15033
    • Q6IBQ2
    • Q96A18

    Protein attributes for EIF4A3 Gene

    Size:
    411 amino acids
    Molecular mass:
    46871 Da
    Quaternary structure:
    • Part of the mRNA splicing-dependent exon junction complex (EJC) complex; the core complex contains CASC3, EIF4A3, MAGOH and RBM8A. Interacts with CASC3, MAGOH, NXF1, RBM8A and ALYREF/THOC4. Identified in the spliceosome C complex. May interact with NOM1. Interacts with POLDIP3. Interacts with CWC22 and PRPF19 in an RNA-independent manner. Direct interaction with CWC22 is mediated by the helicase C-terminal domain. Full interaction with CWC22 occurs only when EIF4A3 is not part of the EJC and prevents EIF4A3 binding to RNA.
    SequenceCaution:
    • Sequence=BAA04879.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EIF4A3 Gene

neXtProt entry for EIF4A3 Gene

Proteomics data for EIF4A3 Gene at MOPED

Post-translational modifications for EIF4A3 Gene

  • Ubiquitination at Lys60, Lys152, Lys198, Lys289, Lys314, Lys374, and Lys382
  • Modification sites at PhosphoSitePlus

Other Protein References for EIF4A3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for EIF4A3 Gene

Gene Families for EIF4A3 Gene

HGNC:
  • DDX :DEAD-boxes

Suggested Antigen Peptide Sequences for EIF4A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P38919

UniProtKB/Swiss-Prot:

IF4A3_HUMAN :
  • P38919
Domain:
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
Family:
  • Belongs to the DEAD box helicase family. eIF4A subfamily.
genes like me logo Genes that share domains with EIF4A3: view

Function for EIF4A3 Gene

Molecular function for EIF4A3 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot EnzymeRegulation: The ATPase activity is increased some 4-fold in the presence of RNA.
UniProtKB/Swiss-Prot Function: ATP-dependent RNA helicase. Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Its RNA-dependent ATPase and RNA-helicase activities are induced by CASC3, but abolished in presence of the MAGOH-RBM8A heterodimer, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The inhibition of ATPase activity by the MAGOH-RBM8A heterodimer increases the RNA-binding affinity of the EJC. Involved in translational enhancement of spliced mRNAs after formation of the 80S ribosome complex. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Shows higher affinity for single-stranded RNA in an ATP-bound core EJC complex than after the ATP is hydrolyzed. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly. Involved in craniofacial development.

Enzyme Numbers (IUBMB) for EIF4A3 Gene

Gene Ontology (GO) - Molecular Function for EIF4A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003729 mRNA binding IDA 22961380
GO:0004004 ATP-dependent RNA helicase activity IDA 10523622
GO:0005515 protein binding IPI 10523622
GO:0005524 ATP binding IDA 10523622
genes like me logo Genes that share ontologies with EIF4A3: view
genes like me logo Genes that share phenotypes with EIF4A3: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for EIF4A3 Gene

Localization for EIF4A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EIF4A3 Gene

Nucleus. Nucleus speckle. Cytoplasm. Note=Nucleocytoplasmic shuttling protein. Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. Detected in dendritic layer as well as the nuclear and cytoplasmic (somatic) compartments of neurons. Colocalizes with STAU1 and FMR1 in dendrites (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EIF4A3 Gene COMPARTMENTS Subcellular localization image for EIF4A3 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for EIF4A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IBA --
GO:0005737 cytoplasm IDA 10523622
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with EIF4A3: view

Pathways for EIF4A3 Gene

genes like me logo Genes that share pathways with EIF4A3: view

Pathways by source for EIF4A3 Gene

1 Cell Signaling Technology pathway for EIF4A3 Gene
1 BioSystems pathway for EIF4A3 Gene

Gene Ontology (GO) - Biological Process for EIF4A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0000288 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay TAS --
GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening TAS --
GO:0000398 mRNA splicing, via spliceosome IC 11991638
GO:0006200 obsolete ATP catabolic process --
genes like me logo Genes that share ontologies with EIF4A3: view

Compounds for EIF4A3 Gene

(1) Novoseek inferred chemical compound relationships for EIF4A3 Gene

Compound -log(P) Hits PubMed IDs
atp 30.2 5
genes like me logo Genes that share compounds with EIF4A3: view

Transcripts for EIF4A3 Gene

Unigene Clusters for EIF4A3 Gene

Eukaryotic translation initiation factor 4A3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EIF4A3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - - - -
SP5: -
SP6:
SP7:

Relevant External Links for EIF4A3 Gene

GeneLoc Exon Structure for
EIF4A3
ECgene alternative splicing isoforms for
EIF4A3

Expression for EIF4A3 Gene

mRNA expression in normal human tissues for EIF4A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EIF4A3 Gene

SOURCE GeneReport for Unigene cluster for EIF4A3 Gene Hs.389649

mRNA Expression by UniProt/SwissProt for EIF4A3 Gene

P38919-IF4A3_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expressions with EIF4A3: view

No data available for mRNA differential expression in normal tissues for EIF4A3 Gene

Orthologs for EIF4A3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIF4A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EIF4A3 35
  • 99.43 (n)
  • 99.76 (a)
EIF4A3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EIF4A3 35
  • 90.19 (n)
  • 99.76 (a)
EIF4A3 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EIF4A3 35
  • 89.05 (n)
  • 99.51 (a)
EIF4A3 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eif4a3 35
  • 86.94 (n)
  • 99.27 (a)
Eif4a3 16
Eif4a3 36
  • 99 (a)
OneToMany
Gm8994 36
  • 97 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 100 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia EIF4A3 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eif4a3 35
  • 88.4 (n)
  • 99.76 (a)
chicken
(Gallus gallus)
Aves EIF4A3 35
  • 83.09 (n)
  • 97.56 (a)
EIF4A3 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EIF4A3 36
  • 93 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.755 35
tropical clawed frog
(Silurana tropicalis)
Amphibia eif4a3 35
  • 82.08 (n)
  • 97.32 (a)
Str.1107 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1301 35
zebrafish
(Danio rerio)
Actinopterygii eif4a3 35
  • 82.72 (n)
  • 97.04 (a)
eif4a3 36
  • 97 (a)
OneToOne
zgc56139 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003089 35
  • 74.06 (n)
  • 88.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta eIF4AIII 35
  • 74.2 (n)
  • 87.94 (a)
eIF4AIII 36
  • 88 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F33D11.10 36
  • 87 (a)
OneToMany
Y65B4A.6 35
  • 72.94 (n)
  • 87.53 (a)
Y65B4A.6 36
  • 86 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER408W 35
  • 61.66 (n)
  • 62.18 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAL1 35
  • 60.27 (n)
  • 62.4 (a)
FAL1 36
  • 61 (a)
OneToMany
FAL1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10659g 35
  • 59.15 (n)
  • 61.28 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1139 35
thale cress
(Arabidopsis thaliana)
eudicotyledons EIF4A-III 35
  • 68.56 (n)
  • 75.56 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.6810 35
corn
(Zea mays)
Liliopsida Zm.16778 35
rice
(Oryza sativa)
Liliopsida Os.11991 35
Os03g0566800 35
  • 70.07 (n)
  • 79.6 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.4227 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01234 35
  • 70.28 (n)
  • 81.91 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1F5.10 35
  • 65.82 (n)
  • 77.66 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2350 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7891 36
  • 92 (a)
OneToOne
Species with no ortholog for EIF4A3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • 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)

Evolution for EIF4A3 Gene

ENSEMBL:
Gene Tree for EIF4A3 (if available)
TreeFam:
Gene Tree for EIF4A3 (if available)

Paralogs for EIF4A3 Gene

Paralogs for EIF4A3 Gene

Pseudogenes.org Pseudogenes for EIF4A3 Gene

genes like me logo Genes that share paralogs with EIF4A3: view

Variants for EIF4A3 Gene

Sequence variations from dbSNP and Humsavar for EIF4A3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs935117 -- 80,141,685(+) TAGAA(A/C)ATTTT intron-variant
rs1804078 -- 80,137,496(-) GTGGA(C/T)TGGCT reference, synonymous-codon
rs1804079 -- 80,136,115(-) CAGGT(C/G)GATAC reference, missense
rs2028551 -- 80,137,100(-) TTCAT(C/T)GTTTC intron-variant
rs2241886 -- 80,140,033(-) GTTGT(C/T)GCGGG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for EIF4A3 Gene

Variant ID Type Subtype PubMed ID
nsv833561 CNV Loss 17160897
nsv469591 CNV Loss 16826518
nsv833562 CNV Loss 17160897

Relevant External Links for EIF4A3 Gene

HapMap Linkage Disequilibrium report
EIF4A3
Human Gene Mutation Database (HGMD)
EIF4A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF4A3 Gene

Disorders for EIF4A3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for EIF4A3 Gene including...

Search for EIF4A3 Gene in MalaCards »

(1) OMIM Diseases for EIF4A3 Gene (608546)

UniProtKB/Swiss-Prot

IF4A3_HUMAN
  • Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305]: A syndrome characterized by a unique pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of mandible, cleft palate/Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. Learning disability is also a common finding. {ECO:0000269 PubMed:24360810}. Note=The disease is caused by mutations affecting the gene represented in this entry. EIF4A3 mutations resulting in Richieri-Costa-Pereira syndrome include a repeat expansion of 18 or 20 nucleotides in the 5 untranslated region. Affected individuals have 14 to 16 repeats, while healthy individuals have 3 to 12 repeats (PubMed:24360810). {ECO:0000269 PubMed:24360810}.

(1) University of Copenhagen DISEASES for EIF4A3 Gene

genes like me logo Genes that share disorders with EIF4A3: view

Publications for EIF4A3 Gene

  1. A human common nuclear matrix protein homologous to eukaryotic translation initiation factor 4A. (PMID: 10623621) Holzmann K. … Sauermann G. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 23
  2. eIF4AIII binds spliced mRNA in the exon junction complex and is essential for nonsense-mediated decay. (PMID: 15034551) Shibuya T. … Moore M.J. (Nat. Struct. Mol. Biol. 2004) 3 4 23
  3. The exon junction core complex is locked onto RNA by inhibition of eIF4AIII ATPase activity. (PMID: 16170325) Ballut L. … Le Hir H. (Nat. Struct. Mol. Biol. 2005) 3 4 23
  4. eIF4A3 is a novel component of the exon junction complex. (PMID: 14730019) Chan C.C. … Dreyfuss G. (RNA 2004) 2 3 4
  5. The crystal structure of the exon junction complex reveals how it maintains a stable grip on mRNA. (PMID: 16923391) Bono F. … Conti E. (Cell 2006) 3 4 23

Products for EIF4A3 Gene

Sources for EIF4A3 Gene

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