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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1981
Gene name	Eukaryotic translation initiation factor 4 gamma 1
Gene symbol	EIF4G1
Synonyms (NCBI Gene)	EIF-4G1EIF4FEIF4GEIF4GIP220PARK18
Chromosome	3
Chromosome location	3q27.1
Summary	The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition o

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SNP ID	Visualize variation	Clinical significance	Consequence
rs111290936	C>T	Risk-factor	Missense variant, coding sequence variant
rs112176450	G>A,T	Risk-factor	Missense variant, coding sequence variant

252

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023744	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT025464	hsa-miR-34a-5p	Sequencing	20371350
MIRT027930	hsa-miR-96-5p	Sequencing	20371350
MIRT031636	hsa-miR-16-5p	Proteomics	18668040
MIRT044854	hsa-miR-320a	CLASH	23622248
MIRT040339	hsa-miR-615-3p	CLASH	23622248
MIRT037839	hsa-miR-455-3p	CLASH	23622248
MIRT037651	hsa-miR-744-5p	CLASH	23622248
MIRT052684	hsa-miR-1260b	CLASH	23622248
MIRT437405	hsa-miR-520c-3p	BL	24497838
MIRT440735	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440735	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT958717	hsa-miR-1324	CLIP-seq
MIRT958718	hsa-miR-3127-3p	CLIP-seq
MIRT958719	hsa-miR-3131	CLIP-seq
MIRT958720	hsa-miR-3157-5p	CLIP-seq
MIRT958721	hsa-miR-361-3p	CLIP-seq
MIRT958722	hsa-miR-3690	CLIP-seq
MIRT958723	hsa-miR-3942-3p	CLIP-seq
MIRT958724	hsa-miR-3945	CLIP-seq
MIRT958725	hsa-miR-4254	CLIP-seq
MIRT958726	hsa-miR-4269	CLIP-seq
MIRT958727	hsa-miR-4313	CLIP-seq
MIRT958728	hsa-miR-4323	CLIP-seq
MIRT958729	hsa-miR-4438	CLIP-seq
MIRT958730	hsa-miR-4452	CLIP-seq
MIRT958731	hsa-miR-4514	CLIP-seq
MIRT958732	hsa-miR-4530	CLIP-seq
MIRT958733	hsa-miR-4632	CLIP-seq
MIRT958734	hsa-miR-4645-5p	CLIP-seq
MIRT958735	hsa-miR-4673	CLIP-seq
MIRT958736	hsa-miR-4691-3p	CLIP-seq
MIRT958737	hsa-miR-4692	CLIP-seq
MIRT958738	hsa-miR-4693-3p	CLIP-seq
MIRT958739	hsa-miR-4715-3p	CLIP-seq
MIRT958740	hsa-miR-4722-3p	CLIP-seq
MIRT958741	hsa-miR-4731-5p	CLIP-seq
MIRT958742	hsa-miR-4740-3p	CLIP-seq
MIRT958743	hsa-miR-4760-3p	CLIP-seq
MIRT958744	hsa-miR-4765	CLIP-seq
MIRT958745	hsa-miR-4793-5p	CLIP-seq
MIRT958746	hsa-miR-486-3p	CLIP-seq
MIRT958747	hsa-miR-499-3p	CLIP-seq
MIRT958748	hsa-miR-499a-3p	CLIP-seq
MIRT958749	hsa-miR-503	CLIP-seq
MIRT958750	hsa-miR-5095	CLIP-seq
MIRT958751	hsa-miR-611	CLIP-seq
MIRT958752	hsa-miR-642b	CLIP-seq
MIRT958753	hsa-miR-1909	CLIP-seq
MIRT958754	hsa-miR-214	CLIP-seq
MIRT958719	hsa-miR-3131	CLIP-seq
MIRT958721	hsa-miR-361-3p	CLIP-seq
MIRT958755	hsa-miR-3619-5p	CLIP-seq
MIRT958722	hsa-miR-3690	CLIP-seq
MIRT958724	hsa-miR-3945	CLIP-seq
MIRT958725	hsa-miR-4254	CLIP-seq
MIRT958727	hsa-miR-4313	CLIP-seq
MIRT958756	hsa-miR-4492	CLIP-seq
MIRT958757	hsa-miR-4498	CLIP-seq
MIRT958758	hsa-miR-4505	CLIP-seq
MIRT958732	hsa-miR-4530	CLIP-seq
MIRT958734	hsa-miR-4645-5p	CLIP-seq
MIRT958759	hsa-miR-4651	CLIP-seq
MIRT958735	hsa-miR-4673	CLIP-seq
MIRT958738	hsa-miR-4693-3p	CLIP-seq
MIRT958741	hsa-miR-4731-5p	CLIP-seq
MIRT958742	hsa-miR-4740-3p	CLIP-seq
MIRT958760	hsa-miR-4742-5p	CLIP-seq
MIRT958744	hsa-miR-4765	CLIP-seq
MIRT958745	hsa-miR-4793-5p	CLIP-seq
MIRT958746	hsa-miR-486-3p	CLIP-seq
MIRT958749	hsa-miR-503	CLIP-seq
MIRT958761	hsa-miR-608	CLIP-seq
MIRT958751	hsa-miR-611	CLIP-seq
MIRT958762	hsa-miR-761	CLIP-seq
MIRT958763	hsa-miR-762	CLIP-seq
MIRT958718	hsa-miR-3127-3p	CLIP-seq
MIRT958726	hsa-miR-4269	CLIP-seq
MIRT958727	hsa-miR-4313	CLIP-seq
MIRT958729	hsa-miR-4438	CLIP-seq
MIRT958750	hsa-miR-5095	CLIP-seq
MIRT1984011	hsa-miR-1293	CLIP-seq
MIRT958717	hsa-miR-1324	CLIP-seq
MIRT958753	hsa-miR-1909	CLIP-seq
MIRT1984012	hsa-miR-1915	CLIP-seq
MIRT958754	hsa-miR-214	CLIP-seq
MIRT958718	hsa-miR-3127-3p	CLIP-seq
MIRT958719	hsa-miR-3131	CLIP-seq
MIRT958720	hsa-miR-3157-5p	CLIP-seq
MIRT1984013	hsa-miR-329	CLIP-seq
MIRT958721	hsa-miR-361-3p	CLIP-seq
MIRT958755	hsa-miR-3619-5p	CLIP-seq
MIRT1984014	hsa-miR-362-3p	CLIP-seq
MIRT1984015	hsa-miR-3657	CLIP-seq
MIRT1984016	hsa-miR-3675-3p	CLIP-seq
MIRT1984017	hsa-miR-3675-5p	CLIP-seq
MIRT1984018	hsa-miR-3679-3p	CLIP-seq
MIRT958722	hsa-miR-3690	CLIP-seq
MIRT1984019	hsa-miR-369-3p	CLIP-seq
MIRT1984020	hsa-miR-374a	CLIP-seq
MIRT1984021	hsa-miR-374b	CLIP-seq
MIRT1984022	hsa-miR-3937	CLIP-seq
MIRT958723	hsa-miR-3942-3p	CLIP-seq
MIRT958724	hsa-miR-3945	CLIP-seq
MIRT958725	hsa-miR-4254	CLIP-seq
MIRT958726	hsa-miR-4269	CLIP-seq
MIRT1984023	hsa-miR-4283	CLIP-seq
MIRT958727	hsa-miR-4313	CLIP-seq
MIRT958728	hsa-miR-4323	CLIP-seq
MIRT958729	hsa-miR-4438	CLIP-seq
MIRT1984024	hsa-miR-4483	CLIP-seq
MIRT1984025	hsa-miR-4489	CLIP-seq
MIRT958756	hsa-miR-4492	CLIP-seq
MIRT958757	hsa-miR-4498	CLIP-seq
MIRT958758	hsa-miR-4505	CLIP-seq
MIRT1984026	hsa-miR-4529-5p	CLIP-seq
MIRT958732	hsa-miR-4530	CLIP-seq
MIRT958733	hsa-miR-4632	CLIP-seq
MIRT958734	hsa-miR-4645-5p	CLIP-seq
MIRT958759	hsa-miR-4651	CLIP-seq
MIRT1984027	hsa-miR-4669	CLIP-seq
MIRT958735	hsa-miR-4673	CLIP-seq
MIRT958736	hsa-miR-4691-3p	CLIP-seq
MIRT958738	hsa-miR-4693-3p	CLIP-seq
MIRT958739	hsa-miR-4715-3p	CLIP-seq
MIRT958740	hsa-miR-4722-3p	CLIP-seq
MIRT958741	hsa-miR-4731-5p	CLIP-seq
MIRT958742	hsa-miR-4740-3p	CLIP-seq
MIRT958760	hsa-miR-4742-5p	CLIP-seq
MIRT958744	hsa-miR-4765	CLIP-seq
MIRT958745	hsa-miR-4793-5p	CLIP-seq
MIRT958746	hsa-miR-486-3p	CLIP-seq
MIRT1984028	hsa-miR-498	CLIP-seq
MIRT958747	hsa-miR-499-3p	CLIP-seq
MIRT958748	hsa-miR-499a-3p	CLIP-seq
MIRT958749	hsa-miR-503	CLIP-seq
MIRT958750	hsa-miR-5095	CLIP-seq
MIRT1984029	hsa-miR-513a-3p	CLIP-seq
MIRT958761	hsa-miR-608	CLIP-seq
MIRT958751	hsa-miR-611	CLIP-seq
MIRT958752	hsa-miR-642b	CLIP-seq
MIRT958762	hsa-miR-761	CLIP-seq
MIRT958763	hsa-miR-762	CLIP-seq
MIRT958717	hsa-miR-1324	CLIP-seq
MIRT958718	hsa-miR-3127-3p	CLIP-seq
MIRT958719	hsa-miR-3131	CLIP-seq
MIRT958720	hsa-miR-3157-5p	CLIP-seq
MIRT958721	hsa-miR-361-3p	CLIP-seq
MIRT1984018	hsa-miR-3679-3p	CLIP-seq
MIRT1984022	hsa-miR-3937	CLIP-seq
MIRT958724	hsa-miR-3945	CLIP-seq
MIRT958726	hsa-miR-4269	CLIP-seq
MIRT958727	hsa-miR-4313	CLIP-seq
MIRT958728	hsa-miR-4323	CLIP-seq
MIRT958729	hsa-miR-4438	CLIP-seq
MIRT958756	hsa-miR-4492	CLIP-seq
MIRT958757	hsa-miR-4498	CLIP-seq
MIRT958758	hsa-miR-4505	CLIP-seq
MIRT958731	hsa-miR-4514	CLIP-seq
MIRT1984026	hsa-miR-4529-5p	CLIP-seq
MIRT958732	hsa-miR-4530	CLIP-seq
MIRT958733	hsa-miR-4632	CLIP-seq
MIRT958734	hsa-miR-4645-5p	CLIP-seq
MIRT958735	hsa-miR-4673	CLIP-seq
MIRT958736	hsa-miR-4691-3p	CLIP-seq
MIRT958737	hsa-miR-4692	CLIP-seq
MIRT958738	hsa-miR-4693-3p	CLIP-seq
MIRT958739	hsa-miR-4715-3p	CLIP-seq
MIRT958740	hsa-miR-4722-3p	CLIP-seq
MIRT958741	hsa-miR-4731-5p	CLIP-seq
MIRT958742	hsa-miR-4740-3p	CLIP-seq
MIRT958760	hsa-miR-4742-5p	CLIP-seq
MIRT958745	hsa-miR-4793-5p	CLIP-seq
MIRT958746	hsa-miR-486-3p	CLIP-seq
MIRT958747	hsa-miR-499-3p	CLIP-seq
MIRT958748	hsa-miR-499a-3p	CLIP-seq
MIRT958749	hsa-miR-503	CLIP-seq
MIRT958750	hsa-miR-5095	CLIP-seq
MIRT958751	hsa-miR-611	CLIP-seq
MIRT958752	hsa-miR-642b	CLIP-seq
MIRT958763	hsa-miR-762	CLIP-seq
MIRT958726	hsa-miR-4269	CLIP-seq
MIRT958729	hsa-miR-4438	CLIP-seq
MIRT958747	hsa-miR-499-3p	CLIP-seq
MIRT958748	hsa-miR-499a-3p	CLIP-seq
MIRT958750	hsa-miR-5095	CLIP-seq
MIRT958752	hsa-miR-642b	CLIP-seq
MIRT958722	hsa-miR-3690	CLIP-seq
MIRT958725	hsa-miR-4254	CLIP-seq
MIRT958745	hsa-miR-4793-5p	CLIP-seq
MIRT1984011	hsa-miR-1293	CLIP-seq
MIRT958753	hsa-miR-1909	CLIP-seq
MIRT958754	hsa-miR-214	CLIP-seq
MIRT958718	hsa-miR-3127-3p	CLIP-seq
MIRT958755	hsa-miR-3619-5p	CLIP-seq
MIRT1984015	hsa-miR-3657	CLIP-seq
MIRT1984017	hsa-miR-3675-5p	CLIP-seq
MIRT1984018	hsa-miR-3679-3p	CLIP-seq
MIRT1984022	hsa-miR-3937	CLIP-seq
MIRT1984023	hsa-miR-4283	CLIP-seq
MIRT958727	hsa-miR-4313	CLIP-seq
MIRT1984024	hsa-miR-4483	CLIP-seq
MIRT1984025	hsa-miR-4489	CLIP-seq
MIRT958756	hsa-miR-4492	CLIP-seq
MIRT958757	hsa-miR-4498	CLIP-seq
MIRT958758	hsa-miR-4505	CLIP-seq
MIRT1984026	hsa-miR-4529-5p	CLIP-seq
MIRT958733	hsa-miR-4632	CLIP-seq
MIRT958734	hsa-miR-4645-5p	CLIP-seq
MIRT958759	hsa-miR-4651	CLIP-seq
MIRT1984027	hsa-miR-4669	CLIP-seq
MIRT958735	hsa-miR-4673	CLIP-seq
MIRT958739	hsa-miR-4715-3p	CLIP-seq
MIRT958760	hsa-miR-4742-5p	CLIP-seq
MIRT958761	hsa-miR-608	CLIP-seq
MIRT958762	hsa-miR-761	CLIP-seq
MIRT958763	hsa-miR-762	CLIP-seq
MIRT1984011	hsa-miR-1293	CLIP-seq
MIRT958753	hsa-miR-1909	CLIP-seq
MIRT958754	hsa-miR-214	CLIP-seq
MIRT958718	hsa-miR-3127-3p	CLIP-seq
MIRT958719	hsa-miR-3131	CLIP-seq
MIRT958721	hsa-miR-361-3p	CLIP-seq
MIRT958755	hsa-miR-3619-5p	CLIP-seq
MIRT1984015	hsa-miR-3657	CLIP-seq
MIRT1984017	hsa-miR-3675-5p	CLIP-seq
MIRT1984018	hsa-miR-3679-3p	CLIP-seq
MIRT1984022	hsa-miR-3937	CLIP-seq
MIRT958724	hsa-miR-3945	CLIP-seq
MIRT1984023	hsa-miR-4283	CLIP-seq
MIRT958727	hsa-miR-4313	CLIP-seq
MIRT1984024	hsa-miR-4483	CLIP-seq
MIRT1984025	hsa-miR-4489	CLIP-seq
MIRT958756	hsa-miR-4492	CLIP-seq
MIRT958757	hsa-miR-4498	CLIP-seq
MIRT958758	hsa-miR-4505	CLIP-seq
MIRT1984026	hsa-miR-4529-5p	CLIP-seq
MIRT958732	hsa-miR-4530	CLIP-seq
MIRT958733	hsa-miR-4632	CLIP-seq
MIRT958734	hsa-miR-4645-5p	CLIP-seq
MIRT958759	hsa-miR-4651	CLIP-seq
MIRT1984027	hsa-miR-4669	CLIP-seq
MIRT958735	hsa-miR-4673	CLIP-seq
MIRT958739	hsa-miR-4715-3p	CLIP-seq
MIRT958741	hsa-miR-4731-5p	CLIP-seq
MIRT958760	hsa-miR-4742-5p	CLIP-seq
MIRT958746	hsa-miR-486-3p	CLIP-seq
MIRT958749	hsa-miR-503	CLIP-seq
MIRT958761	hsa-miR-608	CLIP-seq
MIRT958751	hsa-miR-611	CLIP-seq
MIRT958762	hsa-miR-761	CLIP-seq
MIRT958763	hsa-miR-762	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001662	Process	Behavioral fear response	IEA
GO:0002191	Process	Cap-dependent translational initiation	TAS	25765080
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	TAS	25255371
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IDA	24092755
GO:0003743	Function	Translation initiation factor activity	IBA
GO:0003743	Function	Translation initiation factor activity	IDA	29987188
GO:0003743	Function	Translation initiation factor activity	IEA
GO:0003743	Function	Translation initiation factor activity	TAS	8961935, 9372926
GO:0005515	Function	Protein binding	IPI	10523622, 10970864, 10996799, 12054647, 12086624, 14701818, 15153109, 15361857, 15567442, 15713657, 16513844, 16556936, 16772376, 16932749, 17284590, 17468741, 17984221, 18606994, 18955708, 19203580, 19716330, 20212144, 21191102, 22872150, 23023399, 23041282, 23409027, 23478064, 236
GO:0005524	Function	ATP binding	IDA	25255371
GO:0005634	Component	Nucleus	IDA	17984221
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	18426977
GO:0005737	Component	Cytoplasm	IDA	17984221, 23814182
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	18426977
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IMP	18426977
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	IMP	18426977
GO:0006412	Process	Translation	IPI	24092755
GO:0006413	Process	Translational initiation	IBA
GO:0006413	Process	Translational initiation	IDA	29987188
GO:0006413	Process	Translational initiation	IEA
GO:0006413	Process	Translational initiation	NAS	19239892, 25255371
GO:0006413	Process	Translational initiation	TAS	18426977
GO:0006417	Process	Regulation of translation	IEA
GO:0006446	Process	Regulation of translational initiation	IEA
GO:0006446	Process	Regulation of translational initiation	IMP	19648179
GO:0006446	Process	Regulation of translational initiation	NAS	8961935, 9372926
GO:0008135	Function	Translation factor activity, RNA binding	IEA
GO:0008135	Function	Translation factor activity, RNA binding	IMP	18426977
GO:0008135	Function	Translation factor activity, RNA binding	TAS	9857202, 10880459
GO:0008190	Function	Eukaryotic initiation factor 4E binding	IDA	23814182
GO:0008190	Function	Eukaryotic initiation factor 4E binding	TAS	25765080
GO:0010494	Component	Cytoplasmic stress granule	IDA	17984221
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0010507	Process	Negative regulation of autophagy	IMP	18426977
GO:0016020	Component	Membrane	HDA	19946888
GO:0016281	Component	Eukaryotic translation initiation factor 4F complex	IBA
GO:0016281	Component	Eukaryotic translation initiation factor 4F complex	IDA	25255371
GO:0016281	Component	Eukaryotic translation initiation factor 4F complex	NAS	19239892
GO:0016281	Component	Eukaryotic translation initiation factor 4F complex	TAS	9857202
GO:0030182	Process	Neuron differentiation	IEA
GO:0030307	Process	Positive regulation of cell growth	IMP	18426977
GO:0031369	Function	Translation initiation factor binding	TAS	25765080
GO:0031669	Process	Cellular response to nutrient levels	IMP	18426977
GO:0035278	Process	MiRNA-mediated gene silencing by inhibition of translation	IDA	23409027
GO:0035278	Process	MiRNA-mediated gene silencing by inhibition of translation	TAS	25765080
GO:0036493	Process	Positive regulation of translation in response to endoplasmic reticulum stress	IMP	29062139
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0051247	Process	Positive regulation of protein metabolic process	IMP	18426977
GO:0060090	Function	Molecular adaptor activity	TAS	25255371
GO:0080135	Process	Regulation of cellular response to stress	TAS	25765080
GO:0097009	Process	Energy homeostasis	IMP	18426977
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IMP	18426977
GO:1904377	Process	Positive regulation of protein localization to cell periphery	IGI	25533483
GO:1905537	Process	Positive regulation of eukaryotic translation initiation factor 4F complex assembly	IMP	18426977
GO:1905537	Process	Positive regulation of eukaryotic translation initiation factor 4F complex assembly	IPI	23041282
GO:1905606	Process	Regulation of presynapse assembly	IGI	25533483

MIM	HGNC	e!Ensembl
600495	3296	ENSG00000114867

Q04637

Protein name

Eukaryotic translation initiation factor 4 gamma 1 (eIF-4-gamma 1) (eIF-4G 1) (eIF-4G1) (p220)

Protein function

Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome (PubMed:29987188). Exists in two complexes, either w

PDB

1LJ2 , 1UG3 , 2W97 , 4AZA , 4F02 , 5EHC , 5EI3 , 5EIR , 5T46 , 5ZK5 , 6ZMW , 8HUJ , 8J7R , 8OZ0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02854	MIF4G	761 → 989	MIF4G domain	Family
PF02847	MA3	1242 → 1354	MA3 domain	Family
PF02020	W2	1520 → 1599	eIF4-gamma/eIF5/eIF2-epsilon	Family

Sequence

MNKAPQSTGPPPAPSPGLPQPAFPPGQTAPVVFSTPQATQMNTPSQPRQHFYPSRAQPPS
SAASRVQSAAPARPGPAAHVYPAGSQVMMIPSQISYPASQGAYYIPGQGRSTYVVPTQQY
PVQPGAPGFYPGASPTEFGTYAGAYYPAQGVQQFPTGVAPTPVLMNQPPQIAPKRERKTI
RIRDPNQGGKDITEEIMSGARTASTPTPPQTGGGLEPQANGETPQVAVIVRPDDRSQGAI
IADRPGLPGPEHSPSESQPSSPSPTPSPSPVLEPGSEPNLAVLSIPGDTMTTIQMSVEES
TPISRETGEPYRLSPEPTPLAEPILEVEVTLSKPVPESEFSSSPLQAPTPLASHTVEIHE
PNGMVPSEDLEPEVESSPELAPPPACPSESPVPIAPTAQPEELLNGAPSPPAVDLSPVSE
PEEQAKEVTASMAPPTIPSATPATAPSATSPAQEEEMEEEEEEEEGEAGEAGEAESEKGG
EELLPPESTPIPANLSQNLEAAAATQVAVSVPKRRRKIKELNKKEAVGDLLDAFKEANPA
VPEVENQPPAGSNPGPESEGSGVPPRPEEADETWDSKEDKIHNAENIQPGEQKYEYKSDQ
WKPLNLEEKKRYDREFLLGFQFIFASMQKPEGLPHISDVVLDKANKTPLRPLDPTRLQGI
NCGPDFTPSFANLGRTTLSTRGPPRGGPGGELPRGPAGLGPRRSQQGPRKEPRKIIATVL
MTEDIKLNKAEKAWKPSSKRTAADKDRGEEDADGSKTQDLFRRVRSILNKLTPQMFQQLM
KQVTQLAIDTEERLKGVIDLIFEKAISEPNFSVAYANMCRCLMALKVPTTEKPTVTVNFR
KLLLNRCQKEFEKDKDDDEVFEKKQKEMDEAATAEERGRLKEELEEARDIARRRSLGNIK
FIGELFKLKMLTEAIMHDCVVKLLKNHDEESLECLCRLLTTIGKDLDFEKAKPRMDQYFN
QMEKIIKEKKTSSRIRFMLQDVLDLRGSNWVPRRGDQGPKTIDQIHKEAEMEEHREHIKV
QQLMAKGSDKRRGGPPGPPISRGLPLVDDGGWNTVPISKGSRPIDTSRLTKITKPGSIDS
NNQLFAPGGRLSWGKGSSGGSGAKPSDAASEAARPATSTLNRFSALQQAVPTESTDNRRV
VQRSSLSRERGEKAGDRGDRLERSERGGDRGDRLDRARTPATKRSFSKEVEERSRERPSQ
PEGLRKAASLTEDRDRGRDAVKREAALPPVSPLKAALSEEELEKKSKAIIEEYLHLNDMK
EAVQCVQELASPSLLFIFVRHGVESTLERSAIAREHMGQLLHQLLCAGHLSTAQYYQGLY
EILELAEDMEIDIPHVWLYLAELVTPILQEGGVPMGELFREITKPLRPLGKAASLLLEIL
GLLCKSMGPKKVGTLWREAGLSWKEFLPEGQDIGAFVAEQKVEYTLGEESEAPGQRALPS
EELNRQLEKLLKEGSSNQRVFDWIEANLSEQQIVSNTLVRALMTAVCYSAIIFETPLRVD
VAVLKARAKLLQKYLCDEQKELQALYALQALVVTLEQPPNLLRMFFDALYDEDVVKEDAF
YSWESSKDPAEQQGKGVALKSVTAFFKWLREAEEESDHN

Sequence length

1599

Interactions

View interactions

	KEGG		Reactome
	Viral myocarditis		ISG15 antiviral mechanism L13a-mediated translational silencing of Ceruloplasmin expression mTORC1-mediated signalling Deadenylation of mRNA AUF1 (hnRNP D0) binds and destabilizes mRNA Translation initiation complex formation Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Ribosomal scanning and start codon recognition GTP hydrolysis and joining of the 60S ribosomal subunit Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs16858676, rs114615711	RCV005908278 RCV005911694
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs190378563, rs16858676	RCV005918972 RCV005908281
Colon adenocarcinoma	Benign	rs190378563, rs16858676	RCV005918967 RCV005908277
EIF4G1-related disorder	Benign; Likely benign; Uncertain significance	rs111659103, rs111924994, rs112420733, rs11918961, rs2230570, rs112718796, rs751830609, rs1194803734, rs771582218, rs192000000, rs113839760, rs140705298, rs1723878056, rs112561176, rs571849011 View all (6 more)	RCV003910905 RCV004753373 RCV003910906 RCV004753372 RCV003980722 RCV003980721 RCV004753646 RCV003402073 RCV003418796 RCV003921502 RCV003929636 RCV003981575 RCV003983451 RCV003906926 RCV003901845 RCV003899392 RCV003924769 RCV003944447 RCV003922022 RCV003915986 RCV003918416
Familial cancer of breast	Benign	rs190378563	RCV005918966
Familial pancreatic carcinoma	Benign	rs190378563	RCV005918968
Lung cancer	Benign	rs112394036	RCV005916697
Malignant lymphoma, large B-cell, diffuse	Benign	rs9846954, rs4912537	RCV005921504 RCV005924610
Malignant tumor of esophagus	Benign	rs112394036	RCV005916695
Melanoma	Benign	rs190378563, rs73187631	RCV005918970 RCV005916477
Nonpapillary renal cell carcinoma	Benign	rs73187631	RCV005916475
Ovarian serous cystadenocarcinoma	Benign	rs190378563	RCV005918969
Parkinson disease 18, autosomal dominant, susceptibility to	Uncertain significance; Likely benign; Benign; risk factor	rs550525876, rs11918961, rs76779558, rs981309467, rs2474099471, rs191357892, rs1724066726, rs1209748965, rs2474110081, rs200560380, rs2474067302, rs753764322, rs112176450, rs111290936, rs2178403, rs2293605, rs939317, rs74627110 View all (3 more)	RCV001331994 RCV002501935 RCV002488410 RCV001814645 RCV002281674 RCV005036731 RCV003330250 RCV003448728 RCV005402038 RCV003989182 RCV004547312 RCV004547393 RCV000022975 RCV000022976 RCV000611515 RCV000601405 RCV000606273 RCV002501379
Thymoma	Benign	rs112394036	RCV005916696
Uterine carcinosarcoma	Benign	rs73187631, rs4912537, rs16858676	RCV005916476 RCV005924611 RCV005908279
Uterine corpus endometrial carcinoma	Benign	rs190378563, rs112394036, rs16858676, rs114615711	RCV005918971 RCV005916698 RCV005908280 RCV005911695
Uveal melanoma	Benign	rs4912537	RCV005924609

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Asthenozoospermia	Associate	31268247
Breast Neoplasms	Associate	15193258, 18426977, 23112151, 25593313, 27026610, 27771839, 33693953, 36551184
Breast Neoplasms	Stimulate	35787690
Carcinogenesis	Associate	27003362, 27501049, 36897548
Carcinoma Hepatocellular	Associate	33783376
Carcinoma Non Small Cell Lung	Associate	27003362, 27501049, 39390016
Carcinoma Pancreatic Ductal	Associate	37432996
Carcinoma Squamous Cell	Associate	36897548
Cognition Disorders	Associate	23124435
COVID 19	Associate	38327202
Dementia	Associate	23124435
Developmental Disabilities	Associate	26740508
DNA Virus Infections	Associate	23112151
Endometrial Neoplasms	Associate	31817792
Esophageal Squamous Cell Carcinoma	Associate	15761962, 35346324
Fatigue Syndrome Chronic	Associate	16049284
Foot and Mouth Disease	Associate	9344915
Hypokinesia	Associate	23124435
Hypoxia	Associate	27771839
Hypoxia Brain	Associate	28060265, 36998012
Infections	Associate	19855901
Infertility	Associate	31268247
Inflammation	Associate	10557283
Inflammatory Breast Neoplasms	Associate	23468988
Leukemia Lymphocytic Chronic B Cell	Associate	25999352
Leukemia Myeloid Acute	Associate	29781401
Leukoplakia	Associate	20145189
Lewy Body Disease	Associate	21907011, 23124435
Lung Neoplasms	Associate	27003362, 27501049
Lymphatic Metastasis	Stimulate	24844222
Lymphoma	Associate	25839159
Medulloblastoma	Associate	29880060
Memory Disorders	Associate	23124435
Meningioma	Associate	28610844
Mesothelioma Malignant	Associate	32659970
Multiple Myeloma	Associate	25717031
Neoplasm Metastasis	Associate	27501049
Neoplasms	Associate	10557283, 15193258, 18426977, 20145189, 21366462, 22474009, 23102376, 23468988, 25593313, 27003362, 27026610, 27771839, 31427592, 32014999, 34358439 View all (5 more)
Neoplasms Mesothelial	Associate	32659970
Nervous System Diseases	Associate	38327202
Neuroblastoma	Associate	32593299, 33540613
Niemann Pick Disease Type C	Associate	26942880
Parkinson Disease	Associate	21907011, 22561553, 22658323, 23124435, 23408866, 23617574, 26490695, 29718834, 30833663, 33818904, 34148545, 34382491
Parkinson Disease Secondary	Associate	22561553, 23124435, 28131822
Parkinsonian Disorders	Associate	21907011, 24704100
Personality Disorders	Associate	32659970
Plaque Amyloid	Associate	23124435
Proteostasis Deficiencies	Associate	28131822
Rett Syndrome	Associate	26740508
Squamous Cell Carcinoma of Head and Neck	Associate	31427592
Uterine Cervical Neoplasms	Associate	24844222

EIF4G1 (eukaryotic translation initiation factor 4 gamma 1)