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

    Gene ID: 3692, updated on 3-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EIF6 in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35278906..35284772, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (36999768..37005633, complement)
    RS_2024_09 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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    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 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001267810.1NP_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:1244
      PTZ00136; eukaryotic translation initiation factor 6-like protein; Provisional
    2. NM_002212.4NP_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:1244
      PTZ00136; eukaryotic translation initiation factor 6-like protein; Provisional
    3. NM_181466.3NP_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:1225
      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_181468.2NP_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:1244
      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_2024_08

    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.