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

    Gene ID: 3692, updated on 5-Nov-2017
    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; Vega:OTTHUMG00000032328
    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]
    Orthologs
    Location:
    20q11.22
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (35278906..35284816, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33866709..33872619, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene metallothionein 1 pseudogene 3 Neighboring gene matrix metallopeptidase 24 Neighboring gene MMP24 opposite strand Neighboring gene FAM83C antisense RNA 1 Neighboring gene family with sequence similarity 83 member C Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
    Web-based, participant-driven studies yield novel genetic associations for common traits.
    NHGRI GWA Catalog
    • Ribosome biogenesis in eukaryotes, organism-specific biosystem (from KEGG)
      Ribosome biogenesis in eukaryotes, organism-specific biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
    • Ribosome biogenesis in eukaryotes, conserved biosystem (from KEGG)
      Ribosome biogenesis in eukaryotes, conserved biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
    • Translation Factors, organism-specific biosystem (from WikiPathways)
      Translation Factors, organism-specific biosystemProtein synthesis is the ultimate step of gene expression and a key control point for regulation. In particular, it enables cells to rapidly manipulate protein production without new mRNA synthesis, ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ribosomal large subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ribosome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    translation initiation factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    assembly of large subunit precursor of preribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    gene silencing by miRNA IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    maturation of 5.8S rRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    maturation of LSU-rRNA IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mature ribosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    miRNA mediated inhibition of translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of translation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of fatty acid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of glycolytic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of megakaryocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of reactive oxygen species metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to insulin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ribosomal subunit export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    translational initiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    preribosome, large subunit precursor IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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

    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
      4976..10886
      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
      P56537
      Related
      ENSP00000483289.1, ENST00000621148.4
      Conserved Domains (1) summary
      PTZ00136
      Location:1244
      PTZ00136; eukaryotic translation initiation factor 6-like protein; Provisional
    2. NM_002212.3NP_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, DB448068
      Consensus CDS
      CCDS13249.1
      UniProtKB/Swiss-Prot
      P56537
      Related
      ENSP00000363574.3, OTTHUMP00000030734, ENST00000374450.7, OTTHUMT00000078848
      Conserved Domains (1) summary
      PTZ00136
      Location:1244
      PTZ00136; eukaryotic translation initiation factor 6-like protein; Provisional
    3. NM_181466.2NP_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, OTTHUMP00000061361, ENST00000374443.7, OTTHUMT00000125661
      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
      P56537
      Related
      ENSP00000363559.3, OTTHUMP00000061360, ENST00000374436.7, OTTHUMT00000125658
      Conserved Domains (1) summary
      PTZ00136
      Location:1244
      PTZ00136; eukaryotic translation initiation factor 6-like protein; Provisional

    RNA

    1. NR_052022.1 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, OTTHUMT00000125659
    2. NR_052023.1 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, OTTHUMT00000125663

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      35278906..35284816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      33767787..33773697 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.
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