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    EIF5 eukaryotic translation initiation factor 5 [ Homo sapiens (human) ]

    Gene ID: 1983, updated on 27-Nov-2024

    Summary

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    Official Symbol
    EIF5provided by HGNC
    Official Full Name
    eukaryotic translation initiation factor 5provided by HGNC
    Primary source
    HGNC:HGNC:3299
    See related
    Ensembl:ENSG00000100664 MIM:601710; AllianceGenome:HGNC:3299
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EIF-5; EIF-5A
    Summary
    Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).[supplied by OMIM, May 2010]
    Expression
    Ubiquitous expression in bone marrow (RPKM 60.5), thyroid (RPKM 44.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EIF5 in Genome Data Viewer
    Location:
    14q32.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (103334237..103345025)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (97570092..97580884)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (103800574..103811362)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:103768183-103768683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103777212-103778188 Neighboring gene CRISPRi-validated cis-regulatory element chr14.2493 Neighboring gene uncharacterized LOC105378183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6150 Neighboring gene EIF5 divergent transcript Neighboring gene small nucleolar RNA, H/ACA box 28 Neighboring gene Sharpr-MPRA regulatory region 8941 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:103827642-103828841 Neighboring gene high mobility group box 3 pseudogene 26 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:103838386-103839043 Neighboring gene ribosomal protein SA pseudogene 5

    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. Characterization of multiple mRNAs that encode mammalian translation initiation factor 5 (eIF-5). Si K, et al. J Biol Chem, 1996 Jul 12. PMID 8663286
    2. Structure of the eukaryotic initiation factor (eIF) 5 reveals a fold common to several translation factors. Conte MR, et al. Biochemistry, 2006 Apr 11. PMID 16584190
    3. The crystal structure of the carboxy-terminal domain of human translation initiation factor eIF5. Bieniossek C, et al. J Mol Biol, 2006 Jul 7. PMID 16781736
    4. Cloning and characterization of the p42 subunit of mammalian translation initiation factor 3 (eIF3): demonstration that eIF3 interacts with eIF5 in mammalian cells. Bandyopadhyay A, et al. Nucleic Acids Res, 1999 Mar 1. PMID 9973622, Free PMC Article
    5. The joining of ribosomal subunits in eukaryotes requires eIF5B. Pestova TV, et al. Nature, 2000 Jan 20. PMID 10659855

    See all (125) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Roles of HDAC2, eIF5, and eIF6 in Lung Cancer Tumorigenesis.
      Title: Roles of HDAC2, eIF5, and eIF6 in Lung Cancer Tumorigenesis.
    2. Translational initiation pathway inhibition could be of clinical utility in male breast cancer patients overexpressing eIF4E and eIF5. With mTOR inhibitors that target this pathway now in the clinic, these biomarkers may represent new targets for therapeutic intervention, although further independent validation is required
      Title: A Case-Matched Gender Comparison Transcriptomic Screen Identifies eIF4E and eIF5 as Potential Prognostic Markers in Male Breast Cancer.
    3. Data show that eIF5-mimic protein (5MP) represses non-AUG translation by competing with translation initiation factor 5 (eIF5) for the Met-tRNAi-binding factor eIF2.
      Title: Competition between translation initiation factor eIF5 and its mimic protein 5MP determines non-AUG initiation rate genome-wide.
    4. The down-regulation of the GCN4 expression (Gcn(-) phenotype) in the eIF5(G31R) mutant was not because of leaky scanning defects; rather was due to the utilization of upUUG initiation codons at the 5' regulatory region present between uORF1 and the main GCN4 ORF.
      Title: Defect in the GTPase activating protein (GAP) function of eIF5 causes repression of GCN4 translation.
    5. overexpression of eIF5 and 5MP induces translation of ATF4
      Title: Overexpression of eIF5 or its protein mimic 5MP perturbs eIF2 function and induces ATF4 translation through delayed re-initiation.
    6. it is eIF5-induced GTP hydrolysis and Pi release that irreversibly trap the 48S complex, and this complex is further stabilized by eIF5B and 60S joining.
      Title: Sliding of a 43S ribosomal complex from the recognized AUG codon triggered by a delay in eIF2-bound GTP hydrolysis.
    7. The N-terminal tail of eIF1A mediates the interaction with eIF5 and eIF1.
      Title: The interaction between eukaryotic initiation factor 1A and eIF5 retains eIF1 within scanning preinitiation complexes.
    8. Coordinated movements of eukaryotic translation initiation factors eIF1, eIF1A, and eIF5 trigger phosphate release from eIF2 in response to start codon recognition by the ribosomal preinitiation complex
      Title: Coordinated movements of eukaryotic translation initiation factors eIF1, eIF1A, and eIF5 trigger phosphate release from eIF2 in response to start codon recognition by the ribosomal preinitiation complex.
    9. This study provides mechanistic insight into the role of eIF5-carboxyl terminal domain's dynamic interplay with eIF1 and eIF2beta.
      Title: The C-terminal domain of eukaryotic initiation factor 5 promotes start codon recognition by its dynamic interplay with eIF1 and eIF2β.
    10. miR-5787 represses cell growth, in part, by targeting eIF5.
      Title: The hsa-miR-5787 represses cellular growth by targeting eukaryotic translation initiation factor 5 (eIF5) in fibroblasts.
    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
    Seventy-five genetic loci influencing the human red blood cell.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated eukaryotic translation initiation factor 5 (EIF5) protein is incorporated into HIV-1 Gag virus-like particles PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP-dissociation inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables cadherin binding HDA PubMed 
    enables eukaryotic initiation factor eIF2 binding IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    Process Evidence Code Pubs
    involved_in formation of cytoplasmic translation initiation complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of translational initiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ribosome assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    NOT located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    eukaryotic translation initiation factor 5

    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_001969.5 → NP_001960.2  eukaryotic translation initiation factor 5

      See identical proteins and their annotated locations for NP_001960.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL138976
      Consensus CDS
      CCDS9980.1
      UniProtKB/Swiss-Prot
      P55010, Q53XB3, Q9H5N2, Q9UG48
      UniProtKB/TrEMBL
      Q6IBU0
      Related
      ENSP00000216554.3, ENST00000216554.8
      Conserved Domains (2) summary
      cd11561
      Location:233 → 385
      W2_eIF5; C-terminal W2 domain of eukaryotic translation initiation factor 5
      pfam01873
      Location:9 → 128
      eIF-5_eIF-2B; Domain found in IF2B/IF5

    2. NM_183004.5 → NP_892116.2  eukaryotic translation initiation factor 5

      See identical proteins and their annotated locations for NP_892116.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL138976
      Consensus CDS
      CCDS9980.1
      UniProtKB/Swiss-Prot
      P55010, Q53XB3, Q9H5N2, Q9UG48
      UniProtKB/TrEMBL
      Q6IBU0
      Related
      ENSP00000376477.2, ENST00000392715.6
      Conserved Domains (2) summary
      cd11561
      Location:233 → 385
      W2_eIF5; C-terminal W2 domain of eukaryotic translation initiation factor 5
      pfam01873
      Location:9 → 128
      eIF-5_eIF-2B; Domain found in IF2B/IF5

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      103334237..103345025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      97570092..97580884
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55010.2 GenPept UniProtKB/Swiss-Prot:P55010

    Gene LinkOut

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

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