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    EIF4H eukaryotic translation initiation factor 4H [ Homo sapiens (human) ]

    Gene ID: 7458, updated on 6-Aug-2017
    Official Symbol
    EIF4Hprovided by HGNC
    Official Full Name
    eukaryotic translation initiation factor 4Hprovided by HGNC
    Primary source
    HGNC:HGNC:12741
    See related
    Ensembl:ENSG00000106682 MIM:603431; Vega:OTTHUMG00000023025
    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
    WSCR1; WBSCR1; eIF-4H
    Summary
    This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    7q11.23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (74174376..74197101)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73588706..73611429)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene elastin Neighboring gene uncharacterized LOC107986809 Neighboring gene LIM domain kinase 1 Neighboring gene microRNA 590 Neighboring gene linker for activation of T-cells family member 2 Neighboring gene replication factor C subunit 2

    • 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?

    • Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S, organism-specific biosystem (from REACTOME)
      Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S, organism-specific biosystemThe cap-binding complex is constituted by the initiation factors eIF4A, eIF4G and eIF4E. First, eIF4E must be released from the inactive eIF4E:4E-BP complex. Then eIF4A interacts with eIF4G, and eIF...
    • Cap-dependent Translation Initiation, organism-specific biosystem (from REACTOME)
      Cap-dependent Translation Initiation, organism-specific biosystemTranslation initiation is a complex process in which the Met-tRNAi initiator, 40S, and 60S ribosomal subunits are assembled by eukaryotic initiation factors (eIFs) into an 80S ribosome at the start c...
    • Eukaryotic Translation Initiation, organism-specific biosystem (from REACTOME)
      Eukaryotic Translation Initiation, organism-specific biosystemInitiation of translation in the majority of eukaryotic cellular mRNAs depends on the 5'-cap (m7GpppN) and involves ribosomal scanning of the 5' untranslated region (5'-UTR) for an initiating AUG sta...
    • GTP hydrolysis and joining of the 60S ribosomal subunit, organism-specific biosystem (from REACTOME)
      GTP hydrolysis and joining of the 60S ribosomal subunit, organism-specific biosystemHydrolysis of eIF2-GTP occurs after the Met-tRNAi has recognized the AUG. This reaction is catalyzed by eIF5 (or eIF5B) and is thought to cause dissociation of all other initiation factors and allow ...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • L13a-mediated translational silencing of Ceruloplasmin expression, organism-specific biosystem (from REACTOME)
      L13a-mediated translational silencing of Ceruloplasmin expression, organism-specific biosystemWhile circularization of mRNA during translation initiation is thought to contribute to an increase in the efficiency of translation, it also appears to provide a mechanism for translational silencin...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Ribosomal scanning and start codon recognition, organism-specific biosystem (from REACTOME)
      Ribosomal scanning and start codon recognition, organism-specific biosystemThe 80S ribosome bound to the mRNA moves along the mRNA molecule from its initial site to the initiation codon and forms a 48S complex, in which the initiation codon is base paired to the anticodon o...
    • Translation, organism-specific biosystem (from REACTOME)
      Translation, organism-specific biosystemProtein synthesis is accomplished through the process of translation of an mRNA sequence into a polypeptide chain. This process can be divided into three distinct stages: initiation, elongation and ...
    • 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, ...
    • Translation initiation complex formation, organism-specific biosystem (from REACTOME)
      Translation initiation complex formation, organism-specific biosystemThe translation initiation complex forms when the 43S complex binds the mRNA that is associated with eIF4F, eIF4B and eIF4H. eIF4G in the eIF4F complex can directly contact eIF3 in the 43S complex. e...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0038

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA strand annealing activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    RNA strand-exchange activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    helicase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ribosomal small subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    translation factor activity, RNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    translation initiation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    developmental growth IEA
    Inferred from Electronic Annotation
    more info
     
    eukaryotic translation initiation factor 4F complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    formation of translation preinitiation complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of translational initiation TAS
    Traceable Author Statement
    more info
    PubMed 
    sexual reproduction IEA
    Inferred from Electronic Annotation
    more info
     
    translational initiation TAS
    Traceable Author Statement
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    eukaryotic translation initiation factor 4F complex TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    polysome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    eukaryotic translation initiation factor 4H
    Names
    Williams-Beuren syndrome chromosome region 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_008869.1 RefSeqGene

      Range
      5001..27724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_022170.1NP_071496.1  eukaryotic translation initiation factor 4H isoform 1

      See identical proteins and their annotated locations for NP_071496.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF045555
      Consensus CDS
      CCDS5564.1
      UniProtKB/Swiss-Prot
      Q15056
      Related
      ENSP00000265753.8, OTTHUMP00000160561, ENST00000265753.12, OTTHUMT00000252375
      Conserved Domains (3) summary
      COG0724
      Location:37121
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12401
      Location:41116
      RRM_eIF4H; RNA recognition motif in eukaryotic translation initiation factor 4H (eIF-4H) and similar proteins
      pfam06273
      Location:134243
      eIF-4B; Plant specific eukaryotic initiation factor 4B
    2. NM_031992.1NP_114381.1  eukaryotic translation initiation factor 4H isoform 2

      See identical proteins and their annotated locations for NP_114381.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. This variant encodes isoform 2 which is shorter, compared to isoform 1.
      Source sequence(s)
      AF045555
      Consensus CDS
      CCDS5565.1
      UniProtKB/Swiss-Prot
      Q15056
      Related
      ENSP00000265754.8, OTTHUMP00000160563, ENST00000353999.6, OTTHUMT00000252376
      Conserved Domains (3) summary
      COG0724
      Location:37121
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12401
      Location:41116
      RRM_eIF4H; RNA recognition motif in eukaryotic translation initiation factor 4H (eIF-4H) and similar proteins
      pfam06273
      Location:148223
      eIF-4B; Plant specific eukaryotic initiation factor 4B

    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_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      74174376..74197101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516556.1XP_011514858.1  eukaryotic translation initiation factor 4H isoform X1

      Conserved Domains (3) summary
      COG0724
      Location:18123
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12401
      Location:43118
      RRM_eIF4H; RNA recognition motif in eukaryotic translation initiation factor 4H (eIF-4H) and similar proteins
      pfam06273
      Location:136245
      eIF-4B; Plant specific eukaryotic initiation factor 4B
    2. XM_011516557.1XP_011514859.1  eukaryotic translation initiation factor 4H isoform X2

      Conserved Domains (3) summary
      COG0724
      Location:18123
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12401
      Location:43118
      RRM_eIF4H; RNA recognition motif in eukaryotic translation initiation factor 4H (eIF-4H) and similar proteins
      pfam06273
      Location:150225
      eIF-4B; Plant specific eukaryotic initiation factor 4B

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      73733792..73756510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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