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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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