EIF4E eukaryotic translation initiation factor 4E [Homo sapiens (human)] - Gene

Summary

Official Symbol: EIF4Eprovided by HGNC
Official Full Name: eukaryotic translation initiation factor 4Eprovided by HGNC
Primary source: HGNC:HGNC:3287
See related: Ensembl:ENSG00000151247 MIM:133440; AllianceGenome:HGNC:3287
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CBP; EIF4F; AUTS19; EIF4E1; eIF-4E; EIF4EL1
Summary: The protein encoded by this gene is a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5' end of messenger RNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the 5'-cap structure. Association of this protein with the 4F complex is the rate-limiting step in translation initiation. This gene acts as a proto-oncogene, and its expression and activation is associated with transformation and tumorigenesis. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Expression: Ubiquitous expression in testis (RPKM 13.1), thyroid (RPKM 12.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q23

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (98879276..98929133, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (102194230..102244088, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (99800427..99850284, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human eukaryotic initiation factor 4G directly binds the 40S ribosomal subunit to promote efficient translation.
Title: Human eukaryotic initiation factor 4G directly binds the 40S ribosomal subunit to promote efficient translation.
The human eIF4E:4E-BP2 complex structure for studying hyperphosphorylation.
Title: The human eIF4E:4E-BP2 complex structure for studying hyperphosphorylation.
eIF4E plays the role of a pathogenic gene in psoriasis, and the inhibition of eIF4E phosphorylation ameliorates psoriasis-like skin damage.
Title: eIF4E plays the role of a pathogenic gene in psoriasis, and the inhibition of eIF4E phosphorylation ameliorates psoriasis-like skin damage.
miR-483-5p orchestrates the initiation of protein synthesis by facilitating the decrease in phosphorylated Ser209eIF4E and 4E-BP1 levels.
Title: miR-483-5p orchestrates the initiation of protein synthesis by facilitating the decrease in phosphorylated Ser209eIF4E and 4E-BP1 levels.
The eukaryotic translation initiation factor eIF4E unexpectedly acts in splicing thereby coupling mRNA processing with translation: eIF4E induces widescale splicing reprogramming providing system-wide connectivity between splicing, nuclear mRNA export and translation.
Title: The eukaryotic translation initiation factor eIF4E unexpectedly acts in splicing thereby coupling mRNA processing with translation: eIF4E induces widescale splicing reprogramming providing system-wide connectivity between splicing, nuclear mRNA export and translation.
Genetic Evidence Supporting a Causal Association Between mTOR-Dependent EIF-4E Circulating Protein Level and Osteoporosis.
Title: Genetic Evidence Supporting a Causal Association Between mTOR-Dependent EIF-4E Circulating Protein Level and Osteoporosis.
The role of eIF4F-driven mRNA translation in regulating the tumour microenvironment.
Title: The role of eIF4F-driven mRNA translation in regulating the tumour microenvironment.
mTOR pathway candidate genes and physical activity interaction on breast cancer risk in black women from the women's circle of health study.
Title: mTOR pathway candidate genes and physical activity interaction on breast cancer risk in black women from the women's circle of health study.
Expression of eIF4E Gene in Glioma and Its Sensitivity to Oxidative Stress.
Title: Expression of eIF4E Gene in Glioma and Its Sensitivity to Oxidative Stress.
Phosphorylation of eIF4E in the stroma drives the production and spatial organisation of collagen type I in the mammary gland.
Title: Phosphorylation of eIF4E in the stroma drives the production and spatial organisation of collagen type I in the mammary gland.

Submit: New GeneRIF Correction See all GeneRIFs (287)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autism, susceptibility to, 19 MedGen: C3554495 OMIM: 615091 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	The transcription factors and kinases c-Jun, JNK, MEK, p38 MAPK, STAT-3, JAK-1, TFII D, TFII F, eIF-4E, and RNA polymerase II are induced by HIV-1 gp120	PubMed
Pr55(Gag)	gag	Expression of HIV-1 Gag requires eIF4E, eIF4G, and eIF4A (eIF4F) binding to the viral 5'UTR	PubMed
Vpr	vpr	HIV-1 Vpr expression in HEK293 cells is sufficient to decrease the levels of phosphorylated eIF4E and 4E-BP1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH99170 (e-PCR)
- UniSTS:90149

SHGC-31816 (e-PCR)
- UniSTS:81494

RH92334 (e-PCR)
- UniSTS:85403

PMC56953P1 (e-PCR)
- UniSTS:273361

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA 7-methylguanosine cap binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA 7-methylguanosine cap binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA cap binding	TAS Traceable Author Statement more info	PubMed
enables enzyme binding	IDA Inferred from Direct Assay more info	PubMed
enables eukaryotic initiation factor 4G binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA cap binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA cap binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables translation initiation factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables translation initiation factor activity	IDA Inferred from Direct Assay more info	PubMed
enables translation initiation factor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in behavioral fear response	IEA Inferred from Electronic Annotation more info
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in mRNA export from nucleus	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in negative regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of translation	IEA Inferred from Electronic Annotation more info
involved_in neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of translation at postsynapse, modulating synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in translational initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in translational initiation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in P-body	IDA Inferred from Direct Assay more info	PubMed
part_of RISC complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromatoid body	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
located_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of eukaryotic translation initiation factor 4F complex	IBA Inferred from Biological aspect of Ancestor more info
part_of eukaryotic translation initiation factor 4F complex	IDA Inferred from Direct Assay more info	PubMed
part_of eukaryotic translation initiation factor 4F complex	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: eukaryotic translation initiation factor 4E

Names: eIF-4F 25 kDa subunit; eukaryotic translation initiation factor 4E-like 1; mRNA cap-binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047048.2 RefSeqGene

Range

6503..56360

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130678.4 → NP_001124150.1 eukaryotic translation initiation factor 4E isoform 3

See identical proteins and their annotated locations for NP_001124150.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 5'-terminal exon, which results in a different 5' UTR and use of an alternate translation start codon compared to variant 1. It encodes isoform 3, which has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AC019131, AC093836, BC107715, DC388666

Consensus CDS

CCDS47109.1

UniProtKB/TrEMBL

Q32Q75, X5D7E3

Related

ENSP00000280892.6, ENST00000280892.10

Conserved Domains (1) summary

pfam01652
Location:61 → 217

IF4E; Eukaryotic initiation factor 4E
NM_001130679.3 → NP_001124151.1 eukaryotic translation initiation factor 4E isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform 2, which is longer than isoform 1.

Source sequence(s)

AC019131, AC093836, BM849222

Consensus CDS

CCDS54779.1

UniProtKB/TrEMBL

Q32Q75

Related

ENSP00000425561.1, ENST00000505992.1

Conserved Domains (1) summary

pfam01652
Location:38 → 228

IF4E; Eukaryotic initiation factor 4E
NM_001331017.2 → NP_001317946.1 eukaryotic translation initiation factor 4E isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in its 5' UTR and contains an alternate exon in its 5' coding region compared to variant 1. This variant represents translation initiation at an alternate start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the alternate start codon to encode an isoform (4) that has a longer and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC093836, BC035166, BY994926, M15353

Consensus CDS

CCDS82940.1

UniProtKB/TrEMBL

D6RBW1, Q32Q75

Related

ENSP00000423977.1, ENST00000504432.5

Conserved Domains (1) summary

cl02106
Location:64 → 242

IF4E; Eukaryotic initiation factor 4E
NM_001968.5 → NP_001959.1 eukaryotic translation initiation factor 4E isoform 1

See identical proteins and their annotated locations for NP_001959.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the shortest isoform (1).

Source sequence(s)

AC019131, AC093836, M15353

Consensus CDS

CCDS34031.1

UniProtKB/Swiss-Prot

B7Z6V1, D6RCQ6, P06730, Q96E95

UniProtKB/TrEMBL

Q32Q75

Related

ENSP00000389624.2, ENST00000450253.7

Conserved Domains (1) summary

pfam01652
Location:38 → 197

IF4E; Eukaryotic initiation factor 4E