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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
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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

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