Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9775
Gene name Gene Name - the full gene name approved by the HGNC.	Eukaryotic translation initiation factor 4A3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EIF4A3
Synonyms (NCBI Gene) Gene synonyms aliases	DDX48, Fal1, MUK34, NMP265, NUK34, RCPS, eIF-4A-III, eIF4A-III, eIF4AIII
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q25.3
Summary Summary of gene provided in NCBI Entrez 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 second

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SNP ID	Visualize variation	Clinical significance	Consequence
rs587777204	T>C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(161)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030151	hsa-miR-26b-5p	Microarray	19088304
MIRT047149	hsa-miR-183-5p	CLASH	23622248
MIRT044207	hsa-miR-99b-5p	CLASH	23622248
MIRT043493	hsa-miR-331-3p	CLASH	23622248
MIRT042843	hsa-miR-324-3p	CLASH	23622248
MIRT040853	hsa-miR-18a-3p	CLASH	23622248
MIRT036955	hsa-miR-877-3p	CLASH	23622248
MIRT036955	hsa-miR-877-3p	CLASH	23622248
MIRT681809	hsa-miR-5197-5p	HITS-CLIP	23706177
MIRT681808	hsa-miR-6888-5p	HITS-CLIP	23706177
MIRT681807	hsa-miR-3929	HITS-CLIP	23706177
MIRT681806	hsa-miR-4419b	HITS-CLIP	23706177
MIRT681805	hsa-miR-4478	HITS-CLIP	23706177
MIRT681804	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT681803	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT681802	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT681801	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT681800	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT681799	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT681798	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT681797	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT681796	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT681795	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT681794	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT681793	hsa-miR-4458	HITS-CLIP	23706177
MIRT681792	hsa-miR-4500	HITS-CLIP	23706177
MIRT681791	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT681790	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT681789	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT681788	hsa-miR-3622b-5p	HITS-CLIP	23706177
MIRT681787	hsa-miR-7106-5p	HITS-CLIP	23706177
MIRT681786	hsa-miR-149-3p	HITS-CLIP	23706177
MIRT681785	hsa-miR-4728-5p	HITS-CLIP	23706177
MIRT681784	hsa-miR-6785-5p	HITS-CLIP	23706177
MIRT681783	hsa-miR-6883-5p	HITS-CLIP	23706177
MIRT681782	hsa-miR-6799-5p	HITS-CLIP	23706177
MIRT681781	hsa-miR-1233-5p	HITS-CLIP	23706177
MIRT681780	hsa-miR-6778-5p	HITS-CLIP	23706177
MIRT681779	hsa-miR-1273h-5p	HITS-CLIP	23706177
MIRT681778	hsa-miR-30b-3p	HITS-CLIP	23706177
MIRT681777	hsa-miR-3689a-3p	HITS-CLIP	23706177
MIRT681776	hsa-miR-3689b-3p	HITS-CLIP	23706177
MIRT681775	hsa-miR-3689c	HITS-CLIP	23706177
MIRT681774	hsa-miR-6779-5p	HITS-CLIP	23706177
MIRT681773	hsa-miR-6780a-5p	HITS-CLIP	23706177
MIRT681772	hsa-miR-665	HITS-CLIP	23706177
MIRT561070	hsa-miR-548u	PAR-CLIP	20371350
MIRT561069	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT561068	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT561067	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT561066	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT561065	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT561064	hsa-miR-8087	PAR-CLIP	20371350
MIRT561063	hsa-miR-6124	PAR-CLIP	20371350
MIRT545412	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT545411	hsa-miR-3153	PAR-CLIP	20371350
MIRT545410	hsa-miR-6733-5p	PAR-CLIP	20371350
MIRT545409	hsa-miR-6739-5p	PAR-CLIP	20371350
MIRT545414	hsa-miR-3976	PAR-CLIP	21572407
MIRT545415	hsa-miR-6871-5p	PAR-CLIP	21572407
MIRT545413	hsa-miR-593-5p	PAR-CLIP	21572407
MIRT545412	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT545411	hsa-miR-3153	PAR-CLIP	21572407
MIRT545410	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT545409	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT545408	hsa-miR-3115	PAR-CLIP	21572407
MIRT681809	hsa-miR-5197-5p	HITS-CLIP	23706177
MIRT681808	hsa-miR-6888-5p	HITS-CLIP	23706177
MIRT681807	hsa-miR-3929	HITS-CLIP	23706177
MIRT681806	hsa-miR-4419b	HITS-CLIP	23706177
MIRT681805	hsa-miR-4478	HITS-CLIP	23706177
MIRT681804	hsa-miR-7162-3p	HITS-CLIP	23706177
MIRT681803	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT681802	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT681801	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT681800	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT681799	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT681798	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT681797	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT681796	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT681795	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT681794	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT681793	hsa-miR-4458	HITS-CLIP	23706177
MIRT681792	hsa-miR-4500	HITS-CLIP	23706177
MIRT681791	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT681790	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT681789	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT681788	hsa-miR-3622b-5p	HITS-CLIP	23706177
MIRT681787	hsa-miR-7106-5p	HITS-CLIP	23706177
MIRT681786	hsa-miR-149-3p	HITS-CLIP	23706177
MIRT681785	hsa-miR-4728-5p	HITS-CLIP	23706177
MIRT681784	hsa-miR-6785-5p	HITS-CLIP	23706177
MIRT681783	hsa-miR-6883-5p	HITS-CLIP	23706177
MIRT681782	hsa-miR-6799-5p	HITS-CLIP	23706177
MIRT681781	hsa-miR-1233-5p	HITS-CLIP	23706177
MIRT681780	hsa-miR-6778-5p	HITS-CLIP	23706177
MIRT681779	hsa-miR-1273h-5p	HITS-CLIP	23706177
MIRT681778	hsa-miR-30b-3p	HITS-CLIP	23706177
MIRT681777	hsa-miR-3689a-3p	HITS-CLIP	23706177
MIRT681776	hsa-miR-3689b-3p	HITS-CLIP	23706177
MIRT681775	hsa-miR-3689c	HITS-CLIP	23706177
MIRT681774	hsa-miR-6779-5p	HITS-CLIP	23706177
MIRT681773	hsa-miR-6780a-5p	HITS-CLIP	23706177
MIRT681772	hsa-miR-665	HITS-CLIP	23706177
MIRT561070	hsa-miR-548u	PAR-CLIP	20371350
MIRT561069	hsa-miR-7161-5p	PAR-CLIP	20371350
MIRT561068	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT561067	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT561066	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT561065	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT561064	hsa-miR-8087	PAR-CLIP	20371350
MIRT561063	hsa-miR-6124	PAR-CLIP	20371350
MIRT545412	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT545411	hsa-miR-3153	PAR-CLIP	20371350
MIRT545410	hsa-miR-6733-5p	PAR-CLIP	20371350
MIRT545409	hsa-miR-6739-5p	PAR-CLIP	20371350
MIRT545414	hsa-miR-3976	PAR-CLIP	21572407
MIRT545415	hsa-miR-6871-5p	PAR-CLIP	21572407
MIRT545413	hsa-miR-593-5p	PAR-CLIP	21572407
MIRT545412	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT545411	hsa-miR-3153	PAR-CLIP	21572407
MIRT545410	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT545409	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT545408	hsa-miR-3115	PAR-CLIP	21572407
MIRT957846	hsa-miR-132	CLIP-seq
MIRT957847	hsa-miR-212	CLIP-seq
MIRT957848	hsa-miR-2278	CLIP-seq
MIRT957849	hsa-miR-3156-3p	CLIP-seq
MIRT957850	hsa-miR-4287	CLIP-seq
MIRT957851	hsa-miR-4301	CLIP-seq
MIRT957852	hsa-miR-4311	CLIP-seq
MIRT957853	hsa-miR-4468	CLIP-seq
MIRT957854	hsa-miR-4469	CLIP-seq
MIRT957855	hsa-miR-4495	CLIP-seq
MIRT957856	hsa-miR-4666-5p	CLIP-seq
MIRT957857	hsa-miR-4685-3p	CLIP-seq
MIRT957858	hsa-miR-4699-3p	CLIP-seq
MIRT957859	hsa-miR-4773	CLIP-seq
MIRT957860	hsa-miR-4795-3p	CLIP-seq
MIRT1983727	hsa-miR-1253	CLIP-seq
MIRT1983728	hsa-miR-4712-3p	CLIP-seq
MIRT2219049	hsa-miR-125a-3p	CLIP-seq
MIRT957846	hsa-miR-132	CLIP-seq
MIRT957847	hsa-miR-212	CLIP-seq
MIRT2219050	hsa-miR-214	CLIP-seq
MIRT2219051	hsa-miR-3619-5p	CLIP-seq
MIRT2219052	hsa-miR-3665	CLIP-seq
MIRT957850	hsa-miR-4287	CLIP-seq
MIRT2219053	hsa-miR-4433	CLIP-seq
MIRT957854	hsa-miR-4469	CLIP-seq
MIRT2219054	hsa-miR-4672	CLIP-seq
MIRT957857	hsa-miR-4685-3p	CLIP-seq
MIRT2219055	hsa-miR-4782-5p	CLIP-seq
MIRT2219056	hsa-miR-4799-5p	CLIP-seq
MIRT2219057	hsa-miR-761	CLIP-seq
MIRT2219050	hsa-miR-214	CLIP-seq
MIRT2219051	hsa-miR-3619-5p	CLIP-seq
MIRT2219052	hsa-miR-3665	CLIP-seq
MIRT2219053	hsa-miR-4433	CLIP-seq
MIRT2219054	hsa-miR-4672	CLIP-seq
MIRT2219057	hsa-miR-761	CLIP-seq

Show/Hide all(65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	16209946
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	29301961
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IDA	10523622
GO:0003724	Function	RNA helicase activity	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IDA	22961380
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	10523622, 14730019, 14973490, 15361857, 16170325, 16189514, 16209946, 16601204, 16797590, 16923391, 16931718, 18066079, 18423201, 19410547, 19417104, 19478851, 20123736, 20479275, 21576267, 22365833, 22522823, 22961380, 23084401, 23236153, 25220460, 25416956, 26382858, 28514442, 299
GO:0005524	Function	ATP binding	IDA	10523622
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	29301961
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005730	Component	Nucleolus	IBA
GO:0005737	Component	Cytoplasm	IDA	10523622
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006406	Process	MRNA export from nucleus	NAS	11532962
GO:0006417	Process	Regulation of translation	IEA
GO:0008143	Function	Poly(A) binding	IDA	10523622
GO:0008306	Process	Associative learning	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016607	Component	Nuclear speck	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0017148	Process	Negative regulation of translation	IDA	10523622
GO:0030425	Component	Dendrite	IEA
GO:0035145	Component	Exon-exon junction complex	IDA	16601204
GO:0035145	Component	Exon-exon junction complex	IPI	16931718
GO:0035145	Component	Exon-exon junction complex	ISS
GO:0035368	Function	Selenocysteine insertion sequence binding	IEA
GO:0035613	Function	RNA stem-loop binding	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0043021	Function	Ribonucleoprotein complex binding	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045727	Process	Positive regulation of translation	IMP	18423201
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IMP	24360810
GO:0051028	Process	MRNA transport	IEA
GO:0071006	Component	U2-type catalytic step 1 spliceosome	IDA	29301961
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638, 22961380
GO:0072715	Process	Cellular response to selenite ion	IEA
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099578	Process	Regulation of translation at postsynapse, modulating synaptic transmission	IEA
GO:1904570	Process	Negative regulation of selenocysteine incorporation	IEA
GO:1990416	Process	Cellular response to brain-derived neurotrophic factor stimulus	IEA
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:2000622	Process	Regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IDA	19478851
GO:2000622	Process	Regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	ISS

MIM	HGNC	e!Ensembl
608546	18683	ENSG00000141543

Protein

UniProt ID

P38919

Protein name

Eukaryotic initiation factor 4A-III (eIF-4A-III) (eIF4A-III) (EC 3.6.4.13) (ATP-dependent RNA helicase DDX48) (ATP-dependent RNA helicase eIF4A-3) (DEAD box protein 48) (Eukaryotic initiation factor 4A-like NUK-34) (Eukaryotic translation initiation facto

Protein function

ATP-dependent RNA helicase (PubMed:16170325). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:22961380, PubMed:28076346, PubMed:28502770, PubMed:29301961). Core component of the splicing-dependent multiprot

PDB

2HXY , 2HYI , 2J0Q , 2J0S , 2J0U , 2XB2 , 3EX7 , 4C9B , 5MQF , 5XJC , 5YZG , 6ICZ , 6QDV , 6YVH , 7A5P , 7W59 , 7W5A , 7W5B , 7ZNJ , 8C6J , 8I0W , 9FMD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	62 → 228	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	263 → 372	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10623621}.

Sequence

MATTATMATSGSARKRLLKEEDMTKVEFETSEEVDVTPTFDTMGLREDLLRGIYAYGFEK
PSAIQQRAIKQIIKGRDVIAQSQSGTGKTATFSISVLQCLDIQVRETQALILAPTRELAV
QIQKGLLALGDYMNVQCHACIGGTNVGEDIRKLDYGQHVVAGTPGRVFDMIRRRSLRTRA
IKMLVLDEADEMLNKGFKEQIYDVYRYLPPATQVVLISATLPHEILEMTNKFMTDPIRIL
VKRDELTLEGIKQFFVAVEREEWKFDTLCDLYDTLTITQAVIFCNTKRKVDWLTEKMREA
NFTVSSMHGDMPQKERESIMKEFRSGASRVLISTDVWARGLDVPQVSLIINYDLPNNREL
YIHRIGRSGRYGRKGVAINFVKNDDIRILRDIEQYYSTQIDEMPMNVADLI

Sequence length

411

Interactions

View interactions

	KEGG		Reactome
	Nucleocytoplasmic transport mRNA surveillance pathway Spliceosome		ISG15 antiviral mechanism Transport of Mature mRNA derived from an Intron-Containing Transcript Deadenylation of mRNA mRNA Splicing - Major Pathway mRNA 3'-end processing RNA Polymerase II Transcription Termination Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Richieri Costa Pereira Syndrome	richieri costa-pereira syndrome	rs587777204	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35435126
Adenocarcinoma of Lung	Stimulate	37011005
Breast Neoplasms	Associate	32965163, 36443711
Carcinogenesis	Associate	36443711, 37079240
Carcinoma Hepatocellular	Associate	33750838, 35509064, 36419260
Carcinoma Non Small Cell Lung	Associate	37079240
Cholangiocarcinoma	Associate	34898474
Colorectal Neoplasms	Associate	32857753, 34337040, 34660182, 37940881, 39810713
Endometrial Neoplasms	Associate	35546509
Esophageal Neoplasms	Associate	36221055
Esophageal Squamous Cell Carcinoma	Associate	36221055
Glioblastoma	Associate	32926734, 37322413
Hypoxia	Associate	36369467
Leukemia Myeloid Acute	Associate	33741901
Melanoma	Associate	35813236
Muscular Dystrophy Facioscapulohumeral	Associate	28273136
Nasopharyngeal Carcinoma	Associate	35680727
Neoplasms	Associate	26989025, 34204574, 34643458, 35135542, 35435126, 35513835, 36369467, 37011005, 37098796, 37180585, 37322413, 37777564
Neoplasms	Stimulate	34158631, 36419260, 36541122
Ovarian Neoplasms	Stimulate	37098796
Pancreatic Neoplasms	Associate	36369467
Squamous Cell Carcinoma of Head and Neck	Associate	37902305
Stomach Neoplasms	Associate	33954199
Urinary Bladder Neoplasms	Associate	33176280
Urinary Bladder Neoplasms	Stimulate	37180585, 37777564
Uterine Cervical Neoplasms	Associate	34278492, 35513835
Vaginal Neoplasms	Associate	19367286

EIF4A3 (eukaryotic translation initiation factor 4A3)