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EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1 [ Homo sapiens (human) ]

Gene ID: 56478, updated on 3-Apr-2024

Summary

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Official Symbol
EIF4ENIF1provided by HGNC
Official Full Name
eukaryotic translation initiation factor 4E nuclear import factor 1provided by HGNC
Primary source
HGNC:HGNC:16687
See related
Ensembl:ENSG00000184708 MIM:607445; AllianceGenome:HGNC:16687
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
4E-T; Clast4
Summary
The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
Expression
Broad expression in testis (RPKM 19.7), brain (RPKM 7.2) and 25 other tissues See more
Orthologs
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Genomic context

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See EIF4ENIF1 in Genome Data Viewer
Location:
22q12.2
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31436963..31493568, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31899248..31958783, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31835353..31885828, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 338, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13631 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:31795617-31796522 Neighboring gene developmentally regulated GTP binding protein 1 Neighboring gene H3K27ac hESC enhancers GRCh37_chr22:31885137-31885760 and GRCh37_chr22:31885761-31886383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18858 Neighboring gene RNA, U6 small nuclear 28, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13635 Neighboring gene SFI1 centrin binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18861 Neighboring gene H2A.Z histone pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18862 Neighboring gene ribosomal protein S18 pseudogene 14

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency. Shang L, et al. Eur J Med Genet, 2022 Oct. PMID 36030004
  2. The eIF4E-Binding Protein 4E-T Is a Component of the mRNA Decay Machinery that Bridges the 5' and 3' Termini of Target mRNAs. Nishimura T, et al. Cell Rep, 2015 Jun 9. PMID 26027925
  3. Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency. Kasippillai T, et al. J Clin Endocrinol Metab, 2013 Sep. PMID 23902945, Free PMC Article
  4. 4E-T-bound mRNAs are stored in a silenced and deadenylated form. Räsch F, et al. Genes Dev, 2020 Jun 1. PMID 32354837, Free PMC Article
  5. Dual mechanisms regulate the nucleocytoplasmic localization of human DDX6. Huang JH, et al. Sci Rep, 2017 Feb 20. PMID 28216671, Free PMC Article

See all (94) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. An intramolecular disulphide bond in human 4E-T affects its binding to eIF4E1a protein.
    Title: An intramolecular disulphide bond in human 4E-T affects its binding to eIF4E1a protein.
  2. EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency.
    Title: EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency.
  3. we demonstrate that joint deletion of two short conserved motifs that bind UNR and DDX6 relieves repression of 4E-T-bound mRNA, in part reliant on the 4E-T-DDX6-CNOT1 axis.
    Title: The DDX6-4E-T interaction mediates translational repression and P-body assembly.
  4. our data support a model where 4E-T promotes mRNA turnover by physically linking the 3'-terminal mRNA decay machinery to the 5' cap
    Title: The eIF4E-Binding Protein 4E-T Is a Component of the mRNA Decay Machinery that Bridges the 5' and 3' Termini of Target mRNAs.
  5. neural precursors are transcriptionally primed to generate neurons, but an eIF4E/4E-T complex sequesters and represses translation of proneurogenic proteins to determine appropriate neurogenesis.
    Title: An eIF4E1/4E-T complex determines the genesis of neurons from precursors by translationally repressing a proneurogenic transcription program.
  6. that while both eIF4E1 and eIF4E2 bind 4E-T via the canonical YX 4Lvarphi sequence, nearby downstream sequences also influence eIF4E:4E-T interactions
    Title: Investigating the consequences of eIF4E2 (4EHP) interaction with 4E-transporter on its cellular distribution in HeLa cells.
  7. This work has demonstrated the conserved yet unpredicted and surprising translational control of bound mRNAs by 4E-T, which does not involve eIF4E, nor P-body components.
    Title: Human 4E-T represses translation of bound mRNAs and enhances microRNA-mediated silencing.
  8. Data demonstrate that EIF4ENIF1 is associated with dominantly inherited primary ovarian insufficiency.
    Title: Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.
  9. The c-Jun N-terminal kinase (JNK) is targeted to processing bodies in response to oxidative stress and promotes the phosphorylation of 4E-T.
    Title: Phosphorylation of the eukaryotic translation initiation factor 4E-transporter (4E-T) by c-Jun N-terminal kinase promotes stress-dependent P-body assembly.
  10. Hsp90 probably contributes to the correct localization of eIF4E and 4E-T to stress granules and also to the interaction between eIF4E and eIF4G, both of which may be needed for eIF4E to acquire the physiological functionality
    Title: The Hsp90 inhibitor geldanamycin abrogates colocalization of eIF4E and eIF4E-transporter into stress granules and association of eIF4E with eIF4G.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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

EBI GWAS Catalog

Description
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21601, FLJ26551

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nuclear export signal receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in P-body assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in P-body assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mRNA stabilization IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_positive_effect miRNA-mediated gene silencing by inhibition of translation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of deadenylation-dependent decapping of nuclear-transcribed mRNA IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of translation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of translation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of translation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in nuclear export IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of nuclear-transcribed mRNA poly(A) tail shortening IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein import into nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
  
involved_in translation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in P-body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in PML body IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in membrane HDA PubMed 
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
eukaryotic translation initiation factor 4E transporter
Names
2610509L04Rik
4E-transporter
eIF4E transporter

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.

mRNA and Protein(s)

  1. NM_001164501.2 → NP_001157973.1  eukaryotic translation initiation factor 4E transporter isoform a

    See identical proteins and their annotated locations for NP_001157973.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    AK314636, BC032941, BC033028, DA336484
    Consensus CDS
    CCDS13898.1
    UniProtKB/Swiss-Prot
    B1AKL2, B1AKL3, B2RBF1, Q8NCF2, Q9H708, Q9NRA8
    UniProtKB/TrEMBL
    B1AKL4
    Related
    ENSP00000380659.1, ENST00000397525.5
    Conserved Domains (1) summary
    pfam10477
    Location:30 → 711
    EIF4E-T; Nucleocytoplasmic shuttling protein for mRNA cap-binding EIF4E

  2. NM_001164502.2 → NP_001157974.1  eukaryotic translation initiation factor 4E transporter isoform b

    See identical proteins and their annotated locations for NP_001157974.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame segment in the coding region compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AK314636, BC032941
    Consensus CDS
    CCDS54520.1
    UniProtKB/TrEMBL
    B1AKL4
    Related
    ENSP00000342927.5, ENST00000344710.9
    Conserved Domains (1) summary
    pfam10477
    Location:85 → 537
    EIF4E-T; Nucleocytoplasmic shuttling protein for mRNA cap-binding EIF4E

  3. NM_019843.4 → NP_062817.2  eukaryotic translation initiation factor 4E transporter isoform a

    See identical proteins and their annotated locations for NP_062817.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    AK314636, BC032941
    Consensus CDS
    CCDS13898.1
    UniProtKB/Swiss-Prot
    B1AKL2, B1AKL3, B2RBF1, Q8NCF2, Q9H708, Q9NRA8
    UniProtKB/TrEMBL
    B1AKL4
    Related
    ENSP00000328103.5, ENST00000330125.10
    Conserved Domains (1) summary
    pfam10477
    Location:30 → 711
    EIF4E-T; Nucleocytoplasmic shuttling protein for mRNA cap-binding EIF4E

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    31436963..31493568 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530280.3 → XP_011528582.2  eukaryotic translation initiation factor 4E transporter isoform X3

  2. XM_005261688.4 → XP_005261745.2  eukaryotic translation initiation factor 4E transporter isoform X2

  3. XM_005261686.4 → XP_005261743.1  eukaryotic translation initiation factor 4E transporter isoform X4

    See identical proteins and their annotated locations for XP_005261743.1

    UniProtKB/TrEMBL
    B1AKL4
    Conserved Domains (1) summary
    pfam10477
    Location:30 → 712
    EIF4E-T; Nucleocytoplasmic shuttling protein for mRNA cap-binding EIF4E

  4. XM_005261687.4 → XP_005261744.1  eukaryotic translation initiation factor 4E transporter isoform X4

    See identical proteins and their annotated locations for XP_005261744.1

    UniProtKB/TrEMBL
    B1AKL4
    Conserved Domains (1) summary
    pfam10477
    Location:30 → 712
    EIF4E-T; Nucleocytoplasmic shuttling protein for mRNA cap-binding EIF4E

  5. XM_006724281.5 → XP_006724344.3  eukaryotic translation initiation factor 4E transporter isoform X1

    UniProtKB/TrEMBL
    B1AKL4

RNA

  1. XR_007067979.1 RNA Sequence

  2. XR_007067978.1 RNA Sequence

  3. XR_007067977.1 RNA Sequence

  4. XR_001755264.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    31899248..31958783 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325798.1 → XP_054181773.1  eukaryotic translation initiation factor 4E transporter isoform X3

  2. XM_054325797.1 → XP_054181772.1  eukaryotic translation initiation factor 4E transporter isoform X2

  3. XM_054325799.1 → XP_054181774.1  eukaryotic translation initiation factor 4E transporter isoform X4

  4. XM_054325800.1 → XP_054181775.1  eukaryotic translation initiation factor 4E transporter isoform X4

RNA

  1. XR_008485405.1 RNA Sequence

  2. XR_008485404.1 RNA Sequence

  3. XR_008485403.1 RNA Sequence

  4. XR_008485406.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NRA8.2 GenPept UniProtKB/Swiss-Prot:Q9NRA8

Gene LinkOut

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Chemical Information
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