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    EIF6 eukaryotic translation initiation factor 6 [ Homo sapiens (human) ]

    Gene ID: 3692, updated on 7-Apr-2024

    Summary

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    Official Symbol
    EIF6provided by HGNC
    Official Full Name
    eukaryotic translation initiation factor 6provided by HGNC
    Primary source
    HGNC:HGNC:6159
    See related
    Ensembl:ENSG00000242372 MIM:602912; AllianceGenome:HGNC:6159
    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
    CAB; EIF3A; eIF-6; p27BBP; ITGB4BP; b(2)gcn; p27(BBP)
    Summary
    Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple non-protein coding transcript variants and variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
    Expression
    Ubiquitous expression in esophagus (RPKM 55.8), duodenum (RPKM 45.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q11.22
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35278906..35284772, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36999768..37005633, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33866709..33872575, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene MMP24-AS1-EDEM2 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17775 Neighboring gene metallothionein 1 pseudogene 3 Neighboring gene matrix metallopeptidase 24 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33849077-33849838 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33849839-33850602 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33850603-33851364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33863253-33863860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:33863861-33864468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33872587-33873137 Neighboring gene FAM83C antisense RNA 1 Neighboring gene MMP24 opposite strand Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33892105-33892925 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:33893217-33894416 Neighboring gene family with sequence similarity 83 member C Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33899341-33900264 Neighboring gene Sharpr-MPRA regulatory region 6334 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 1 Neighboring gene Sharpr-MPRA regulatory region 14546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33999108-33999931

    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. Dynamic states of eIF6 and SDS variants modulate interactions with uL14 of the 60S ribosomal subunit. Elliff J, et al. Nucleic Acids Res, 2023 Feb 28. PMID 36651285, Free PMC Article
    2. eIF6 promotes the malignant progression of human hepatocellular carcinoma via the mTOR signaling pathway. Sun L, et al. J Transl Med, 2021 May 20. PMID 34016142, Free PMC Article
    3. Regulation of eukaryotic translation initiation factor 6 dynamics through multisite phosphorylation by GSK3. Jungers CF, et al. J Biol Chem, 2020 Sep 4. PMID 32703900, Free PMC Article
    4. Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome? Koh AL, et al. Am J Med Genet A, 2020 Sep. PMID 32657013
    5. Discovery and Preliminary Characterization of Translational Modulators that Impair the Binding of eIF6 to 60S Ribosomal Subunits. Pesce E, et al. Cells, 2020 Jan 10. PMID 31936702, Free PMC Article

    See all (166) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA eukaryotic translation initiation factor 6 facilitates TPC-1 cell proliferation and invasion through the microRNA-138-5p/lipase H axis.
      Title: Circular RNA eukaryotic translation initiation factor 6 facilitates TPC-1 cell proliferation and invasion through the microRNA-138-5p/lipase H axis.
    2. Dynamic states of eIF6 and SDS variants modulate interactions with uL14 of the 60S ribosomal subunit.
      Title: Dynamic states of eIF6 and SDS variants modulate interactions with uL14 of the 60S ribosomal subunit.
    3. Inhibition of eIF6 Activity Reduces Hepatocellular Carcinoma Growth: An In Vivo and In Vitro Study.
      Title: Inhibition of eIF6 Activity Reduces Hepatocellular Carcinoma Growth: An In Vivo and In Vitro Study.
    4. Eukaryotic initiation factor 6 regulates mechanical responses in endothelial cells.
      Title: Eukaryotic initiation factor 6 regulates mechanical responses in endothelial cells.
    5. Roles of HDAC2, eIF5, and eIF6 in Lung Cancer Tumorigenesis.
      Title: Roles of HDAC2, eIF5, and eIF6 in Lung Cancer Tumorigenesis.
    6. Somatic genetic rescue of a germline ribosome assembly defect.
      Title: Somatic genetic rescue of a germline ribosome assembly defect.
    7. Targeting of eIF6-driven translation induces a metabolic rewiring that reduces NAFLD and the consequent evolution to hepatocellular carcinoma.
      Title: Targeting of eIF6-driven translation induces a metabolic rewiring that reduces NAFLD and the consequent evolution to hepatocellular carcinoma.
    8. eIF6 promotes the malignant progression of human hepatocellular carcinoma via the mTOR signaling pathway.
      Title: eIF6 promotes the malignant progression of human hepatocellular carcinoma via the mTOR signaling pathway.
    9. Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
      Title: Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
    10. Regulation of eukaryotic translation initiation factor 6 dynamics through multisite phosphorylation by GSK3.
      Title: Regulation of eukaryotic translation initiation factor 6 dynamics through multisite phosphorylation by GSK3.
    Submit: New GeneRIF Correction See all GeneRIFs (33)

    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
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Web-based, participant-driven studies yield novel genetic associations for common traits.
    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

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribosomal large subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ribosome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables translation initiation factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in assembly of large subunit precursor of preribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytosolic ribosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in maturation of 5.8S rRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maturation of LSU-rRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in miRNA-mediated gene silencing by inhibition of translation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in miRNA-mediated post-transcriptional gene silencing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of translation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of fatty acid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of glycolytic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of megakaryocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of reactive oxygen species metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to insulin ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ribosomal subunit export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in translational initiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 extracellular exosome HDA PubMed 
    located_in lamin filament IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of preribosome, large subunit precursor IBA
    Inferred from Biological aspect of Ancestor
    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 6
    Names
    B4 integrin interactor
    eukaryotic translation initiation factor 3A
    p27 beta-4 integrin-binding protein
    NP_001254739.1
    NP_002203.1
    NP_852131.1
    NP_852133.1

    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

    1. NG_023238.1 RefSeqGene

      Range
      5020..10874
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001267810.1 → NP_001254739.1  eukaryotic translation initiation factor 6 isoform a

      See identical proteins and their annotated locations for NP_001254739.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 6 all encode the same isoform (a).
      Source sequence(s)
      BC001119, BM851166, BQ222221, CN265282
      Consensus CDS
      CCDS13249.1
      UniProtKB/Swiss-Prot
      B7ZBG9, P56537, Q6IBN8, Q96TD5
      Related
      ENSP00000502429.1, ENST00000675032.1
      Conserved Domains (1) summary
      PTZ00136
      Location:1 → 244
      PTZ00136; eukaryotic translation initiation factor 6-like protein; Provisional

    2. NM_002212.4 → NP_002203.1  eukaryotic translation initiation factor 6 isoform a

      See identical proteins and their annotated locations for NP_002203.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 2, and 6 all encode isoform a.
      Source sequence(s)
      BC001119, BM851166
      Consensus CDS
      CCDS13249.1
      UniProtKB/Swiss-Prot
      B7ZBG9, P56537, Q6IBN8, Q96TD5
      Related
      ENSP00000363574.3, ENST00000374450.8
      Conserved Domains (1) summary
      PTZ00136
      Location:1 → 244
      PTZ00136; eukaryotic translation initiation factor 6-like protein; Provisional

    3. NM_181466.3 → NP_852131.1  eukaryotic translation initiation factor 6 isoform c

      See identical proteins and their annotated locations for NP_852131.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate segment compared to variant 1, which causes a frameshift, and lacks an alternate exon, which corrects the frameshift, compared to variant 1. The resulting isoform (c) lacks an internal segment compared to isoform a.
      Source sequence(s)
      BC001119, BM794263, BM851166, DB448068
      Consensus CDS
      CCDS13250.1
      UniProtKB/Swiss-Prot
      P56537
      Related
      ENSP00000363566.3, ENST00000374443.7
      Conserved Domains (1) summary
      cl00241
      Location:1 → 225
      IF6; Ribosome anti-association factor IF6 binds the large ribosomal subunit and prevents the two subunits from associating during translation initiation. IF6 comprises a family of translation factors that includes both eukaryotic (eIF6) and archeal (aIF6) ...

    4. NM_181468.2 → NP_852133.1  eukaryotic translation initiation factor 6 isoform a

      See identical proteins and their annotated locations for NP_852133.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 6 all encode isoform a.
      Source sequence(s)
      AF022229, BC001119, BM851166, CN265282
      Consensus CDS
      CCDS13249.1
      UniProtKB/Swiss-Prot
      B7ZBG9, P56537, Q6IBN8, Q96TD5
      Related
      ENSP00000363559.3, ENST00000374436.7
      Conserved Domains (1) summary
      PTZ00136
      Location:1 → 244
      PTZ00136; eukaryotic translation initiation factor 6-like protein; Provisional

    RNA

    1. NR_052022.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate coding exon compared to variant 1, that causes a frameshift. This transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is not thought to be protein-coding.
      Source sequence(s)
      AK296076, BM851166, DB448068
      Related
      ENST00000447927.6

    2. NR_052023.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses an alternate splice junction at the 5' end of a coding exon compared to variant 1, that causes a frameshift. This transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is not thought to be protein-coding.
      Source sequence(s)
      BC001119, BM851166, CT002623, DB448068

    3. NR_052024.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) uses an alternate first exon and lacks two alternate coding exons compared to variant 1, that causes a frameshift. This transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is not thought to be protein-coding.
      Source sequence(s)
      BC001119, BG283650, BM851166, CN265282
      Related
      ENST00000440766.5

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      35278906..35284772 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      36999768..37005633 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_181467.1: Suppressed sequence

      Description
      NM_181467.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_181469.1: Suppressed sequence

      Description
      NM_181469.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P56537.1 GenPept UniProtKB/Swiss-Prot:P56537

    Gene LinkOut

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

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