Human Gene EIF4A3 (uc002jxs.3)
  Description: Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA.
RefSeq Summary (NM_014740): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr17:78,109,013-78,120,982 Size: 11,970 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr17:78,109,289-78,120,760 Size: 11,472 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:78,109,013-78,120,982)mRNA (may differ from genome)Protein (411 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IF4A3_HUMAN
DESCRIPTION: RecName: Full=Eukaryotic initiation factor 4A-III; Short=eIF-4A-III; Short=eIF4A-III; EC=3.6.4.13; AltName: Full=ATP-dependent RNA helicase DDX48; AltName: Full=ATP-dependent RNA helicase eIF4A-3; AltName: Full=DEAD box protein 48; AltName: Full=Eukaryotic initiation factor 4A-like NUK-34; AltName: Full=Eukaryotic translation initiation factor 4A isoform 3; AltName: Full=Nuclear matrix protein 265; Short=NMP 265; Short=hNMP 265;
FUNCTION: ATP-dependent RNA helicase. Component of a splicing- dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Core components of the EJC, that remains bound to spliced mRNAs throughout all stages of mRNA metabolism, functions to mark the position of the exon-exon junction in the mature mRNA and thereby influences downstream processes of gene expression including mRNA splicing, nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Constitutes at least part of the platform anchoring other EJC proteins to spliced mRNAs. 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.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: Part of the EJC core complex that contains CASC3, EIF4A3, MAGOH and RBM8A. Found in a mRNA splicing-dependent exon junction complex (EJC), at least composed of ACIN1, CASC3, EIF4A3, MAGOH, PNN, RBM8A, RNPS1, SAP18 and ALYREF/THOC4. Interacts with CASC3, MAGOH, NXF1, RBM8A and ALYREF/THOC4. Identified in the spliceosome C complex. May interact with NOM1. Interacts with POLDIP3.
INTERACTION: O15234:CASC3; NbExp=6; IntAct=EBI-299104, EBI-299118; P61326:MAGOH; NbExp=9; IntAct=EBI-299104, EBI-299134; Q9Y5S9:RBM8A; NbExp=8; IntAct=EBI-299104, EBI-447231; Q9BZI7:UPF3B; NbExp=4; IntAct=EBI-299104, EBI-372780;
SUBCELLULAR LOCATION: 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).
TISSUE SPECIFICITY: Ubiquitously expressed.
SIMILARITY: Belongs to the DEAD box helicase family. eIF4A subfamily.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
SEQUENCE CAUTION: Sequence=BAA04879.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EIF4A3
Diseases sorted by gene-association score: robin sequence with cleft mandible and limb anomalies* (1650), waterhouse-friderichsen syndrome (11), bowen-conradi syndrome (8), vaginal cancer (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 68.60 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1622.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -92.90222-0.418 Picture PostScript Text
3' UTR -66.20276-0.240 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011545 - DNA/RNA_helicase_DEAD/DEAH_N
IPR014001 - Helicase_ATP-bd
IPR001650 - Helicase_C
IPR000629 - RNA-helicase_DEAD-box_CS
IPR014014 - RNA_helicase_DEAD_Q_motif

Pfam Domains:
PF00270 - DEAD/DEAH box helicase
PF00271 - Helicase conserved C-terminal domain

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2HXY - X-ray MuPIT 2HYI - X-ray MuPIT 2J0Q - X-ray MuPIT 2J0S - X-ray MuPIT 2J0U - X-ray MuPIT 2XB2 - X-ray MuPIT 3EX7 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P38919
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0004004 ATP-dependent RNA helicase activity
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008143 poly(A) binding
GO:0016787 hydrolase activity
GO:0035368 selenocysteine insertion sequence binding
GO:0035613 RNA stem-loop binding
GO:0043021 ribonucleoprotein complex binding

Biological Process:
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0000398 mRNA splicing, via spliceosome
GO:0006364 rRNA processing
GO:0006397 mRNA processing
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0006417 regulation of translation
GO:0008306 associative learning
GO:0008380 RNA splicing
GO:0010501 RNA secondary structure unwinding
GO:0010629 negative regulation of gene expression
GO:0014070 response to organic cyclic compound
GO:0017148 negative regulation of translation
GO:0031124 mRNA 3'-end processing
GO:0035640 exploration behavior
GO:0045727 positive regulation of translation
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0051028 mRNA transport
GO:0072715 cellular response to selenite ion
GO:0090394 negative regulation of excitatory postsynaptic potential
GO:1902415 regulation of mRNA binding
GO:1904570 negative regulation of selenocysteine incorporation
GO:1904574 negative regulation of selenocysteine insertion sequence binding
GO:1990416 cellular response to brain-derived neurotrophic factor stimulus

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0016607 nuclear speck
GO:0030425 dendrite
GO:0035145 exon-exon junction complex
GO:0043025 neuronal cell body
GO:0071013 catalytic step 2 spliceosome
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  LF384824 - JP 2014500723-A/192327: Polycomb-Associated Non-Coding RNAs.
BC004386 - Homo sapiens eukaryotic translation initiation factor 4A, isoform 3, mRNA (cDNA clone MGC:10862 IMAGE:3619386), complete cds.
D21853 - Homo sapiens KIAA0111 mRNA.
BC003662 - Homo sapiens eukaryotic translation initiation factor 4A, isoform 3, mRNA (cDNA clone MGC:764 IMAGE:2988931), complete cds.
BC011151 - Homo sapiens eukaryotic translation initiation factor 4A, isoform 3, mRNA (cDNA clone MGC:17481 IMAGE:3452439), complete cds.
X79538 - H.sapiens nuk_34 mRNA for translation initiation factor.
AK290608 - Homo sapiens cDNA FLJ75309 complete cds, highly similar to Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 48, mRNA.
KJ892846 - Synthetic construct Homo sapiens clone ccsbBroadEn_02240 EIF4A3 gene, encodes complete protein.
KJ906007 - Synthetic construct Homo sapiens clone ccsbBroadEn_15677 EIF4A3 gene, encodes complete protein.
AB383751 - Synthetic construct DNA, clone: pF1KSDA0111, Homo sapiens EIF4A3 gene for eukaryotic initiation factor 4A-III, complete cds, without stop codon, in Flexi system.
CR456750 - Homo sapiens full open reading frame cDNA clone RZPDo834C0811D for gene DDX48, DEAD (Asp-Glu-Ala-Asp) box polypeptide 48; complete cds, incl. stopcodon.
CU678566 - Synthetic construct Homo sapiens gateway clone IMAGE:100017208 5' read EIF4A3 mRNA.
MA620401 - JP 2018138019-A/192327: Polycomb-Associated Non-Coding RNAs.
CR749455 - Homo sapiens mRNA; cDNA DKFZp686O16189 (from clone DKFZp686O16189).
LF328547 - JP 2014500723-A/136050: Polycomb-Associated Non-Coding RNAs.
JD350203 - Sequence 331227 from Patent EP1572962.
JD240925 - Sequence 221949 from Patent EP1572962.
JD499825 - Sequence 480849 from Patent EP1572962.
LF328548 - JP 2014500723-A/136051: Polycomb-Associated Non-Coding RNAs.
JD186791 - Sequence 167815 from Patent EP1572962.
LF328549 - JP 2014500723-A/136052: Polycomb-Associated Non-Coding RNAs.
LF328551 - JP 2014500723-A/136054: Polycomb-Associated Non-Coding RNAs.
LF328554 - JP 2014500723-A/136057: Polycomb-Associated Non-Coding RNAs.
LF328555 - JP 2014500723-A/136058: Polycomb-Associated Non-Coding RNAs.
LF328556 - JP 2014500723-A/136059: Polycomb-Associated Non-Coding RNAs.
LF328558 - JP 2014500723-A/136061: Polycomb-Associated Non-Coding RNAs.
LF328560 - JP 2014500723-A/136063: Polycomb-Associated Non-Coding RNAs.
MA564124 - JP 2018138019-A/136050: Polycomb-Associated Non-Coding RNAs.
MA564125 - JP 2018138019-A/136051: Polycomb-Associated Non-Coding RNAs.
MA564126 - JP 2018138019-A/136052: Polycomb-Associated Non-Coding RNAs.
MA564128 - JP 2018138019-A/136054: Polycomb-Associated Non-Coding RNAs.
MA564131 - JP 2018138019-A/136057: Polycomb-Associated Non-Coding RNAs.
MA564132 - JP 2018138019-A/136058: Polycomb-Associated Non-Coding RNAs.
MA564133 - JP 2018138019-A/136059: Polycomb-Associated Non-Coding RNAs.
MA564135 - JP 2018138019-A/136061: Polycomb-Associated Non-Coding RNAs.
MA564137 - JP 2018138019-A/136063: Polycomb-Associated Non-Coding RNAs.
JD174308 - Sequence 155332 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03040 - Spliceosome

Reactome (by CSHL, EBI, and GO)

Protein P38919 (Reactome details) participates in the following event(s):

R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-429955 CCR4-NOT complex deadenylates mRNA
R-HSA-429992 PARN deadenylates mRNA
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-430021 PAN2-PAN3 complex partially deadenylates mRNA
R-HSA-8941312 ZCCHC6, ZCCHC11 are mRNA uridyltransferases
R-HSA-1678842 Competitive inhibition of translation initiation by ISGylated 4EHP
R-HSA-927832 UPF1 binds an mRNP with a termination codon preceding an Exon Junction Complex
R-HSA-75098 mRNP complex dissociates from cytosolic face of NPC
R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally
R-HSA-72185 mRNA polyadenylation
R-HSA-72180 Cleavage of mRNA at the 3'-end
R-HSA-75096 Docking of the TAP:EJC Complex with the NPC
R-HSA-159101 NXF1:NXT1 (TAP:p15) binds capped mRNA:CBC:EJC:TREX (minus DDX39B)
R-HSA-927889 SMG1 phosphorylates UPF1 (enhanced by Exon Junction Complex)
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-429947 Deadenylation of mRNA
R-HSA-72172 mRNA Splicing
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-1169408 ISG15 antiviral mechanism
R-HSA-429914 Deadenylation-dependent mRNA decay
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-376176 Signaling by ROBO receptors
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-1169410 Antiviral mechanism by IFN-stimulated genes
R-HSA-8953854 Metabolism of RNA
R-HSA-72187 mRNA 3'-end processing
R-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-927802 Nonsense-Mediated Decay (NMD)
R-HSA-422475 Axon guidance
R-HSA-72202 Transport of Mature Transcript to Cytoplasm
R-HSA-913531 Interferon Signaling
R-HSA-73856 RNA Polymerase II Transcription Termination
R-HSA-1266738 Developmental Biology
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-168256 Immune System
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: DDX48, IF4A3_HUMAN, KIAA0111, NM_014740, NP_055555, P38919, Q15033, Q6IBQ2, Q96A18
UCSC ID: uc002jxs.3
RefSeq Accession: NM_014740
Protein: P38919 (aka IF4A3_HUMAN)
CCDS: CCDS11767.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014740.3
exon count: 12CDS single in 3' UTR: no RNA size: 1734
ORF size: 1236CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2672.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 179# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.