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Aliases for EIF4A3 Gene

Aliases for EIF4A3 Gene

  • Eukaryotic Translation Initiation Factor 4A3 2 3 5
  • 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
  • NMP 265 3 4
  • DDX48 3 4
  • 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
  • KIAA0111 4
  • EC 3.6.1 61
  • NMP265 3
  • MUK34 3
  • NUK34 3
  • RCPS 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 Bowen-Conradi Syndrome. Among its related pathways are Interferon gamma signaling and Transport of Mature Transcript to Cytoplasm. GO annotations related to this gene include nucleic acid binding and mRNA binding. An important paralog of this gene is MIR1248.

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

Enhancers for EIF4A3 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
GH17F079984 1.3 FANTOM5 Ensembl ENCODE 29.2 +155.5 155520 14.3 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 EIF4A3 LOC100294362 CCDC40 LOC105371918 CBX2 TBC1D16 SGSH LOC105371920 ENGASE RNF213
GH17F080252 1.8 FANTOM5 Ensembl ENCODE 26.6 -112.5 -112517 14.2 CREB3L1 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 TBX21 MEF2D SSRP1 EIF4A3 CHMP6 LOC105371918 LOC105371920 CARD14 LOC100294362 RNF213 RPL12P37 SLC26A11 RBFOX3
GH17F080287 0.6 ENCODE 21.6 -141.9 -141861 2.2 PKNOX1 MLX CREB3L1 SIN3A ARID4B DMAP1 SLC30A9 ZNF766 KLF13 SMARCB1 EIF4A3 LOC100294362 CHMP6 RNF213 ENSG00000262979
GH17F081089 1.2 FANTOM5 Ensembl ENCODE 17.7 -947.1 -947127 8.8 HDGF PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A ZNF2 YY1 ZNF766 ENSG00000262049 LOC100294362 ARL16 HGS EIF4A3 CEP131 ALYREF TEPSIN GPS1 SLC38A10
GH17F079796 0.6 ENCODE 17.7 +350.1 350122 2.1 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS SP3 EIF4A3 CBX4 CBX8 LOC105371918 GC17P079785
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around EIF4A3 on UCSC Golden Path with GeneCards custom track

Promoters for EIF4A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001354843 83 3001 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143

Genomic Location for EIF4A3 Gene

Chromosome:
17
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

Genes around EIF4A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF4A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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. Interacts with NCBP3 (PubMed:26382858).
    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

Post-translational modifications for EIF4A3 Gene

  • Ubiquitination at Lys 198, Lys 314, Lys 374, and Lys 382
  • Modification sites at PhosphoSitePlus

Other Protein References for EIF4A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EIF4A3 (DDX48)

Domains & Families for EIF4A3 Gene

Gene Families for EIF4A3 Gene

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 :
  • Contains 1 helicase ATP-binding domain.
  • Belongs to the DEAD box helicase family. eIF4A subfamily.
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 IEA --
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IDA 22961380
GO:0004004 ATP-dependent RNA helicase activity IDA 10523622
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with EIF4A3: view
genes like me logo Genes that share phenotypes with EIF4A3: view

Human Phenotype Ontology for EIF4A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for EIF4A3 Gene

miRTarBase miRNAs that target EIF4A3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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
cytosol 5
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for EIF4A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005737 cytoplasm IDA 10523622
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with EIF4A3: view

Pathways & Interactions for EIF4A3 Gene

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

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:0000289 nuclear-transcribed mRNA poly(A) tail shortening TAS --
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006364 rRNA processing IEA --
GO:0006369 termination of RNA polymerase II transcription TAS --
genes like me logo Genes that share ontologies with EIF4A3: view

No data available for SIGNOR curated interactions for EIF4A3 Gene

Drugs & Compounds for EIF4A3 Gene

(4) Drugs for EIF4A3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for EIF4A3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EIF4A3 Gene



Protein tissue co-expression partners for EIF4A3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EIF4A3 Gene:

EIF4A3

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 expression patterns with EIF4A3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein 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
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 100 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia EIF4A3 34 35
  • 99.43 (n)
mouse
(Mus musculus)
Mammalia Gm8994 35
  • 97 (a)
OneToMany
Eif4a3 34 16 35
  • 86.94 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EIF4A3 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EIF4A3 34 35
  • 90.19 (n)
dog
(Canis familiaris)
Mammalia EIF4A3 34 35
  • 89.05 (n)
rat
(Rattus norvegicus)
Mammalia Eif4a3 34
  • 88.4 (n)
chicken
(Gallus gallus)
Aves EIF4A3 34 35
  • 83.09 (n)
lizard
(Anolis carolinensis)
Reptilia EIF4A3 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eif4a3 34
  • 82.08 (n)
Str.1107 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.755 34
zebrafish
(Danio rerio)
Actinopterygii eif4a3 34 35
  • 82.72 (n)
zgc56139 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1301 34
fruit fly
(Drosophila melanogaster)
Insecta eIF4AIII 34 35
  • 74.2 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003089 34
  • 74.06 (n)
worm
(Caenorhabditis elegans)
Secernentea F33D11.10 35
  • 87 (a)
OneToMany
Y65B4A.6 34 35
  • 72.94 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER408W 34
  • 61.66 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAL1 34 35 37
  • 60.27 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A10659g 34
  • 59.15 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons EIF4A-III 34
  • 68.56 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1139 34
rice
(Oryza sativa)
Liliopsida Os03g0566800 34
  • 70.07 (n)
Os.11991 34
barley
(Hordeum vulgare)
Liliopsida Hv.6810 34
wheat
(Triticum aestivum)
Liliopsida Ta.4227 34
corn
(Zea mays)
Liliopsida Zm.16778 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7891 35
  • 92 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01234 34
  • 70.28 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1F5.10 34
  • 65.82 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2350 34
Species where no ortholog for EIF4A3 was found in the sources mined by GeneCards:
  • 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
rs587777204 Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305], Pathogenic 80,138,200(+) AGAGG(C/T)CACAC reference, missense
rs111252606 -- 80,136,206(+) TGAAG(A/C)CAATG intron-variant
rs111881225 -- 80,135,358(+) CAAAG(A/G)AAGGG utr-variant-3-prime
rs112133713 -- 80,149,033(+) ACGCC(C/T)GGCTA upstream-variant-2KB
rs112150334 -- 80,144,327(+) GACAT(G/T)GTTTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1066606 CNV gain 25217958
nsv469591 CNV loss 16826518
nsv833561 CNV loss 17160897
nsv833562 CNV loss 17160897

Variation tolerance for EIF4A3 Gene

Residual Variation Intolerance Score: 18.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EIF4A3 Gene

Human Gene Mutation Database (HGMD)
EIF4A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF4A3

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

Disorders for EIF4A3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EIF4A3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
robin sequence with cleft mandible and limb anomalies
  • richieri costa pereira syndrome
bowen-conradi syndrome
  • bowen-conradi hutterite syndrome
vaginal cancer
  • malignant neoplasm of vagina
- elite association - COSMIC cancer census association via MalaCards

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}.

Relevant External Links for EIF4A3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EIF4A3
genes like me logo Genes that share disorders with EIF4A3: view

No data available for Genatlas for EIF4A3 Gene

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 22 64
  2. 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 22 64
  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 22 64
  4. eIF4A3 is a novel component of the exon junction complex. (PMID: 14730019) Chan C.C. … Dreyfuss G. (RNA 2004) 2 3 4 64
  5. 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 22 64

Products for EIF4A3 Gene

Sources for EIF4A3 Gene

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