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

    Gene ID: 56478, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31436963..31493568, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31899248..31958783, complement)
    RS_2024_09 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 ribosomal protein S26 pseudogene 59

    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. An intramolecular disulphide bond in human 4E-T affects its binding to eIF4E1a protein. Zuberek J, et al. Eur Biophys J, 2023 Oct. PMID 37798395, Free PMC Article
    2. Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency. Kasippillai T, et al. J Clin Endocrinol Metab, 2013 Sep. PMID 23902945, Free PMC Article
    3. POI-associated EIF4ENIF1 mutations exhibit impaired translation regulation abilities. Ding Y, et al. Gene, 2024 Jul 30. PMID 38604507
    4. EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency. Shang L, et al. Eur J Med Genet, 2022 Oct. PMID 36030004
    5. 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

    See all (103) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. POI-associated EIF4ENIF1 mutations exhibit impaired translation regulation abilities.
      Title: POI-associated EIF4ENIF1 mutations exhibit impaired translation regulation abilities.
    2. 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.
    3. EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency.
      Title: EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. Data demonstrate that EIF4ENIF1 is associated with dominantly inherited primary ovarian insufficiency.
      Title: Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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