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    Eif4h eukaryotic translation initiation factor 4H [ Mus musculus (house mouse) ]

    Gene ID: 22384, updated on 16-Apr-2024

    Summary

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    Official Symbol
    Eif4hprovided by MGI
    Official Full Name
    eukaryotic translation initiation factor 4Hprovided by MGI
    Primary source
    MGI:MGI:1341822
    See related
    Ensembl:ENSMUSG00000040731 AllianceGenome:MGI:1341822
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ef4h; Wscr1; Wbscr1; eIF-4H; D5Ertd355e; E430026L18Rik
    Summary
    This gene encodes eukaryotic translation initiation factor 4H (eIF4H) that plays a critical role in the process of protein synthesis. The encoded protein is an RNA-binding protein that, in concert with other translation initiation factors, helps unwind the 5' cap-proximal region of mRNA to prepare it for ribosomal attachment. Mice lacking the encoded protein displayed growth retardation with a significant reduction of body weight, a smaller brain volume and altered brain morphology. Behaviorally, mice lacking the encoded protein exhibit severe impairments of fear-related associative learning and memory formation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 110.9), large intestine adult (RPKM 109.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 G2; 5 74.71 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (134648726..134668263, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (134619872..134639409, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E3628 Neighboring gene replication factor C (activator 1) 2 Neighboring gene STARR-positive B cell enhancer ABC_E8085 Neighboring gene linker for activation of T cells family, member 2 Neighboring gene LIM domain kinase 1 Neighboring gene STARR-positive B cell enhancer ABC_E1309 Neighboring gene predicted gene 10369 Neighboring gene STARR-positive B cell enhancer mm9_chr5:135180028-135180329 Neighboring gene elastin Neighboring gene predicted gene, 30003

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Growth defects and impaired cognitive-behavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the Williams-Beuren syndrome critical region. Capossela S, et al. Am J Pathol, 2012 Mar. PMID 22234171
    2. Eukaryotic Initiation Factor 4H Is under Transcriptional Control of p65/NF-κB. Fiume G, et al. PLoS One, 2013. PMID 23776612, Free PMC Article
    3. Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome. Doyle JL, et al. Cytogenet Cell Genet, 2000. PMID 11124535
    4. Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. Fratta P, et al. EMBO J, 2018 Jun 1. PMID 29764981, Free PMC Article
    5. Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. Martindale DW, et al. Mamm Genome, 2000 Oct. PMID 11003705

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (2) 
    • Endonuclease-mediated (2) 

    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 MGI

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables translation initiation factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within developmental growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sexual reproduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within translational initiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    eukaryotic translation initiation factor 4H
    Names
    williams-Beuren syndrome chromosomal region 1 protein homolog

    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.

    mRNA and Protein(s)

    1. NM_001312867.1 → NP_001299796.1  eukaryotic translation initiation factor 4H isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AC166938, AK169407, CF750202, CJ158448
      Consensus CDS
      CCDS84968.1
      UniProtKB/TrEMBL
      Q3TG58, Q80U88
      Related
      ENSMUSP00000048833.10, ENSMUST00000036125.10
      Conserved Domains (2) summary
      TIGR01622
      Location:40 → 207
      SF-CC1; splicing factor, CC1-like family
      cd12401
      Location:37 → 120
      RRM_eIF4H; RNA recognition motif (RRM) found in eukaryotic translation initiation factor 4H (eIF-4H) and similar proteins

    2. NM_033561.2 → NP_291039.1  eukaryotic translation initiation factor 4H isoform 1

      See identical proteins and their annotated locations for NP_291039.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AC166938, AK045004, CF750202, CJ158448
      Consensus CDS
      CCDS19723.1
      UniProtKB/Swiss-Prot
      Q9WUK2, Q9WUK3
      UniProtKB/TrEMBL
      Q3V244, Q564E5
      Related
      ENSMUSP00000143910.2, ENSMUST00000202622.4
      Conserved Domains (2) summary
      TIGR01622
      Location:40 → 227
      SF-CC1; splicing factor, CC1-like family
      cd12401
      Location:37 → 120
      RRM_eIF4H; RNA recognition motif (RRM) found in eukaryotic translation initiation factor 4H (eIF-4H) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      134648726..134668263 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9WUK2.3 GenPept UniProtKB/Swiss-Prot:Q9WUK2

    Gene LinkOut

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

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