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

    Gene ID: 7458, updated on 5-May-2024

    Summary

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    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; AllianceGenome:HGNC:12741
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 113.5), placenta (RPKM 104.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See EIF4H in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (74174356..74197096)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75376368..75399096)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73588686..73611426)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene elastin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73475944-73476444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73476445-73476945 Neighboring gene ELN antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73496834-73497512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73497513-73498191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73499459-73500058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73500059-73500656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73504464-73504964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73504965-73505465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73507121-73507662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26138 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73508745-73509285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26139 Neighboring gene LIM domain kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73519804-73520304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73529551-73530186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73530187-73530821 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73547393-73548180 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73553155-73553684 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:73576750-73576945 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73588725-73589238 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73589239-73589751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73593778-73594278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73594279-73594779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73610469-73610970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26141 Neighboring gene microRNA 590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73630833-73631789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73634419-73635267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26146 Neighboring gene linker for activation of T cells family member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73667761-73668363 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73668364-73668966 Neighboring gene replication factor C subunit 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Key contribution of eIF4H-mediated translational control in tumor promotion. Vaysse C, et al. Oncotarget, 2015 Nov 24. PMID 26498689, Free PMC Article
    2. An alternative splicing isoform of eukaryotic initiation factor 4H promotes tumorigenesis in vivo and is a potential therapeutic target for human cancer. Wu D, et al. Int J Cancer, 2011 Mar 1. PMID 20473909
    3. Small interfering RNAs that deplete the cellular translation factor eIF4H impede mRNA degradation by the virion host shutoff protein of herpes simplex virus. Sarma N, et al. J Virol, 2008 Jul. PMID 18448541, Free PMC Article
    4. Modulation of the helicase activity of eIF4A by eIF4B, eIF4H, and eIF4F. Rogers GW Jr, et al. J Biol Chem, 2001 Aug 17. PMID 11418588
    5. RNA binding motif protein 10 suppresses lung cancer progression by controlling alternative splicing of eukaryotic translation initiation factor 4H. Zhang S, et al. EBioMedicine, 2020 Nov. PMID 33130397, Free PMC Article

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RNA binding motif protein 10 suppresses lung cancer progression by controlling alternative splicing of eukaryotic translation initiation factor 4H.
      Title: RNA binding motif protein 10 suppresses lung cancer progression by controlling alternative splicing of eukaryotic translation initiation factor 4H.
    2. eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated amyotrophic lateral sclerosis.
      Title: eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated ALS.
    3. The results from these procedures revealed eIF4H to be one of the targets of miR-519d. Downregulated eIF4H was analogous to the overexpressed miR-519d obtained from miR-519d agomir and si-eIF4H transfection. In summary, it can be concluded that miR-519d targets eIF4H in lung adenocarcinoma to inhibit cell proliferation and invasion
      Title: Overexpression of miR-519d in lung adenocarcinoma inhibits cell proliferation and invasion via the association of eIF4H.
    4. Results demonstrate that eukaryotic translation initiation factor 4H (eIF4H) plays a crucial role in translational control.
      Title: Key contribution of eIF4H-mediated translational control in tumor promotion.
    5. Eukaryotic Initiation Factor 4H Is under Transcriptional Control of p65/NF-kappaB.
      Title: Eukaryotic Initiation Factor 4H Is under Transcriptional Control of p65/NF-ÎşB.
    6. Studies indicate that eIF4A (DDX2), together with its accessory proteins eIF4B and eIF4H, is thought to act as a helicase that unwinds secondary structures in the mRNA 5' UTR.
      Title: mRNA helicases: the tacticians of translational control.
    7. results suggest that eIF4H isoform 1 plays an important role in carcinogenesis through the activation of oncogenic signaling and could be a promising molecular target for cancer therapy
      Title: An alternative splicing isoform of eukaryotic initiation factor 4H promotes tumorigenesis in vivo and is a potential therapeutic target for human cancer.
    8. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide searching of rare genetic variants in WTCCC data.
    9. Data show that reduced levels of eIF4B, eIF4H, or polyA-binding protein, also trigger SG formation.
      Title: Uncoupling stress granule assembly and translation initiation inhibition.
    10. Study reports the topology of the eIF4A/4G/4H helicase complex, which is built from multiple experimentally observed domain-domain contacts.
      Title: Topology and regulation of the human eIF4A/4G/4H helicase complex in translation initiation.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • KIAA0038

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables translation factor activity, RNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables translation initiation factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in developmental growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of translational initiation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in sexual reproduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in translational initiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of eukaryotic translation initiation factor 4F complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in perinuclear region of 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 chromosome region 1

    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.

    Genomic

    1. NG_008869.1 RefSeqGene

      Range
      4981..27721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_022170.2 → NP_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)
      AC005057, AC005081
      Consensus CDS
      CCDS5564.1
      UniProtKB/Swiss-Prot
      A8K3R1, D3DXF6, D3DXF8, Q15056
      UniProtKB/TrEMBL
      A0A7I2V4E4
      Related
      ENSP00000265753.8, ENST00000265753.13
      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

    2. NM_031992.2 → NP_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)
      AC005057, AC005081
      Consensus CDS
      CCDS5565.1
      UniProtKB/TrEMBL
      A0A7I2V4E4
      Related
      ENSP00000265754.8, ENST00000353999.6
      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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      74174356..74197096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      75376368..75399096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15056.5 GenPept UniProtKB/Swiss-Prot:Q15056

    Gene LinkOut

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

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