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FLASH GENE

Symbol

EIF4A3

contributors: mct - updated : 22-01-2019

HGNC name	eukaryotic translation initiation factor 4A, isoform 3
HGNC id	18683

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DLCRM distal limb contractures with mental retardation RCPS Richieri-Costa-Pereira syndrome
Location	17q25.3      Physical location : 78.109.013 - 78.120.982
Synonym name	eukaryotic initiation factor 4A-like NUK-34
	DEAD (Asp-Glu-Ala-Asp) box polypeptide 48
	ATP-dependent RNA helicase eIF4A-3
	ATP-dependent RNA helicase DDX48
	nuclear matrix protein 265
Synonym symbol(s)	KIAA0111, NMP265, NUK-34, MGC10862, eIF4AIII, DDX48
EC.number	3.6.1.-/ 3.6.4.13

DNA

TYPE	functioning gene
STRUCTURE	11.97 kb     12 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014740 12 - 1734 NP_055555 46.7 411 - -

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive esophagus       highly   liver       highly Endocrine parathyroid       highly Hearing/Equilibrium ear       highly Lymphoid/Immune lymph node       highly   thymus       highly Nervous brain       highly Reproductive female system ovary     highly   female system uterus cervix   highly Respiratory lung       highly Skin/Tegument skin       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Respiratory alveolar cell type 2

cell lineage
cell lines
fluid/secretion	moderately in blood, predominantly in lymph

at STAGE

physiological period

fetal

Text	moderately in umbilical cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a helicase ATP-binding domain
	a DEAD-box motifs
	a helicase C-terminal domain

conjugated

Other

HOMOLOGY

interspecies

homolog to murine Eif4a3 (99.7 pc)

Homologene

FAMILY	DEAD box helicase family
	eIF4A subfamily

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	spliceosome
	EIF4A1 and EIF4A2 are cytoplasmic, whereas EIF4A3 is nuclear-localized

basic FUNCTION	acting as an ATP dependent RNA helicase activities
	may be a translation initiation factor
	playing a role in post splicing events, including mRNA export, cytoplasmic localization and non sense-mediated decay
	involved in nonsense-mediated decay of mRNAs containing premature stop codons
	involved in negative regulation of translation
	role in regulating transcription abundance of neuronal effector genes that underlie learning and memory processes
	acts as a transcript-selective translational repressor of selenoprotein synthesis during selenium deficiency
	DEAD box helicase, the core protein of the exon junction complex (EJC)
	EIF4A3 is an Asp-Glu-Ala-Asp (DEAD) box-family adenosine triphosphate (ATP)-dependent RNA helicase
	EIF4A1 and EIF4A2 are required for translation initiation, but EIF4A3 participates in the exon junction complex (EJC) and functions in RNA metabolism including nonsense-mediated RNA decay (NMD)

CELLULAR PROCESS	nucleotide, RNA splicing
	protein, translation regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of the exon junction complex (EJC)
	component of the exon junction complex which assembles on spliced mRNAs

INTERACTION

DNA

binding

RNA	preferentially associating with spliced mRNA

small molecule	nucleotide,
	ATP

protein	interacting with THOC4
	interaction with the selenoprotein mRNA prevents the binding of SECISBP2, which is required for selenocysteine insertion, thereby inhibiting the synthesis of the selenoprotein
	interaction between NOM1 and EIF4A3 (NOM1 is a missing EIF4G-like interacting partner of eIF4A3)
	CWC22 is a new EIF4A3 partner (duality of CWC22 function that hinders EIF4A3 from nonspecifically binding RNA and escorts it to the splicing machinery to promote exon-junction complex (EJC) assembly on mature mRNAs)
	CWC22 directly interacts with the core exon junction complex (EJC) component EIF4A3
	protein-protein interaction of RALY with EIF4A3, FMR1, and HNRNPC
	CWC22 represents likely an integral component of the spliceosome and orchestrates pre-mRNA splicing and EIF4A3 binding to achieve global assembly of exon junction complexes
	CWC27 functions as a splicing factor, interacting with CWC22 to form a landing platform for EIF4A3, a core component of the exon junction complex

cell & other

REGULATION

Phosphorylated by

at T163 within the RNA-binding motif (a core EJC component) is phosphorylated by cyclin-dependent protein kinases 1 and 2 in a cell cycle-dependent manner, promoting association of EIF4A3 with CWC22, which guides EIF4A3 to an active spliceosome

ASSOCIATED DISORDERS

corresponding disease(s)

RCPS , DLCRM

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS