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    EIF4G1 eukaryotic translation initiation factor 4 gamma 1 [ Homo sapiens (human) ]

    Gene ID: 1981, updated on 9-Dec-2024

    Summary

    Official Symbol
    EIF4G1provided by HGNC
    Official Full Name
    eukaryotic translation initiation factor 4 gamma 1provided by HGNC
    Primary source
    HGNC:HGNC:3296
    See related
    Ensembl:ENSG00000114867 MIM:600495; AllianceGenome:HGNC:3296
    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
    P220; EIF4F; EIF4G; EIF4GI; PARK18; EIF-4G1
    Summary
    The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition of the mRNA cap and the ATP-dependent unwinding of 5'-terminal secondary structure is catalyzed by factors in this complex. The subunit encoded by this gene is a large scaffolding protein that contains binding sites for other members of the EIF4F complex. A domain at its N-terminus can also interact with the poly(A)-binding protein, which may mediate the circularization of mRNA during translation. Alternative splicing results in multiple transcript variants, some of which are derived from alternative promoter usage. [provided by RefSeq, Aug 2010]
    Expression
    Ubiquitous expression in esophagus (RPKM 48.2), skin (RPKM 39.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EIF4G1 in Genome Data Viewer
    Location:
    3q27.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184314606..184335358)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (187123882..187144618)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (184032394..184053146)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene EEF1AKMT4-ECE2 readthrough Neighboring gene endothelin converting enzyme 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14959 Neighboring gene proteasome 26S subunit ubiquitin receptor, non-ATPase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:184031817-184032317 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:184033042-184033663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184045141-184045641 Neighboring gene small nucleolar RNA, C/D box 66 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20908 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:184053938-184054138 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:184055930-184056541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20909 Neighboring gene family with sequence similarity 131 member A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:184061884-184062636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:184062637-184063388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184063389-184064141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184064142-184064893 Neighboring gene chloride voltage-gated channel 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184077025-184077538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:184077539-184078050 Neighboring gene uncharacterized LOC124906311

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Parkinson disease 18, autosomal dominant, susceptibility to
    MedGen: C3280271 OMIM: 614251 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of EIF4G1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1) protein is incorporated into HIV-1 Gag virus-like particles PubMed
    gag The initiation factor eIF4G is required for the synthesis of the Gag polyprotein by a classical cap-dependent mechanism PubMed
    Tat tat HIV-1 Tat co-localizes with eIF4G in cytoplasmic stress granules under stress conditions PubMed
    retropepsin gag-pol Purified HIV-1 protease cleaves eIF4GI at positions 678, 681, and 1086 leading to inhibition of protein synthesis directed by capped mRNAs PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686A1451

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cap-dependent translational initiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to nutrient levels IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in energy homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in macromolecule biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in miRNA-mediated gene silencing by inhibition of translation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in miRNA-mediated gene silencing by inhibition of translation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of peptidyl-threonine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of eukaryotic translation initiation factor 4F complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of eukaryotic translation initiation factor 4F complex assembly IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in positive regulation of mRNA cap binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of peptidyl-serine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein localization to cell periphery IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of protein metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of translation in response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cellular response to stress TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of presynapse assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of translational initiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of translational initiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in translation IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in translational initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in translational initiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in translational initiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in translational initiation TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of eukaryotic translation initiation factor 4F complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of eukaryotic translation initiation factor 4F complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of eukaryotic translation initiation factor 4F complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ribosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    eukaryotic translation initiation factor 4 gamma 1
    Names
    EIF4-gamma
    eIF-4-gamma 1
    eucaryotic translation initiation factor 4G

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016850.2 RefSeqGene

      Range
      5002..25749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001194946.2NP_001181875.2  eukaryotic translation initiation factor 4 gamma 1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, includes an additional in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (6) is longer than isoform 1. Both variants 6 and 7 encode the same isoform.
      Source sequence(s)
      AC078797
      Consensus CDS
      CCDS54687.1
      UniProtKB/TrEMBL
      B2RU10
      Related
      ENSP00000371767.3, ENST00000382330.7
      Conserved Domains (4) summary
      cd11559
      Location:14451577
      W2_eIF4G1_like; C-terminal W2 domain of eukaryotic translation initiation factor 4 gamma 1 and similar proteins
      PHA03247
      Location:21583
      PHA03247; large tegument protein UL36; Provisional
      pfam02847
      Location:12491361
      MA3; MA3 domain
      pfam02854
      Location:768993
      MIF4G; MIF4G domain
    2. NM_001194947.2NP_001181876.2  eukaryotic translation initiation factor 4 gamma 1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, includes an additional in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (6) is longer than isoform 1. Both variants 6 and 7 encode the same isoform.
      Source sequence(s)
      AC078797
      Consensus CDS
      CCDS54687.1
      UniProtKB/TrEMBL
      B2RU10
      Related
      ENSP00000338020.4, ENST00000352767.7
      Conserved Domains (4) summary
      cd11559
      Location:14451577
      W2_eIF4G1_like; C-terminal W2 domain of eukaryotic translation initiation factor 4 gamma 1 and similar proteins
      PHA03247
      Location:21583
      PHA03247; large tegument protein UL36; Provisional
      pfam02847
      Location:12491361
      MA3; MA3 domain
      pfam02854
      Location:768993
      MIF4G; MIF4G domain
    3. NM_001291157.2NP_001278086.2  eukaryotic translation initiation factor 4 gamma 1 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, includes an additional internal segment in the 5' region, which results in a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (7) is shorter at the N-terminus, and lacks an internal residue, compared to isoform 1.
      Source sequence(s)
      AC078797
      Consensus CDS
      CCDS77866.1
      UniProtKB/TrEMBL
      E7EUU4
      Related
      ENSP00000391935.1, ENST00000414031.5
      Conserved Domains (4) summary
      cd11559
      Location:13981530
      W2_eIF4G1_like; C-terminal W2 domain of eukaryotic translation initiation factor 4 gamma 1 and similar proteins
      PHA03247
      Location:13536
      PHA03247; large tegument protein UL36; Provisional
      pfam02847
      Location:12021314
      MA3; MA3 domain
      pfam02854
      Location:721949
      MIF4G; MIF4G domain
    4. NM_004953.5NP_004944.3  eukaryotic translation initiation factor 4 gamma 1 isoform 4

      See identical proteins and their annotated locations for NP_004944.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (4) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC078797, BQ011010
      Consensus CDS
      CCDS46970.2
      UniProtKB/TrEMBL
      E7EX73
      Related
      ENSP00000411826.2, ENST00000434061.6
      Conserved Domains (4) summary
      cd11559
      Location:12431375
      W2_eIF4G1_like; C-terminal W2 domain of eukaryotic translation initiation factor 4 gamma 1 and similar proteins
      pfam02847
      Location:10471159
      MA3; MA3 domain
      pfam02854
      Location:566791
      MIF4G; MIF4G domain
      pfam08648
      Location:9521053
      DUF1777; Protein of unknown function (DUF1777)
    5. NM_182917.4NP_886553.3  eukaryotic translation initiation factor 4 gamma 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      AF002815, AK308319, AY082886, BQ011010, DC347118
      Consensus CDS
      CCDS54688.1
      UniProtKB/TrEMBL
      B2RU10
      Related
      ENSP00000343450.4, ENST00000342981.8
      Conserved Domains (4) summary
      cd11559
      Location:14391571
      W2_eIF4G1_like; C-terminal W2 domain of eukaryotic translation initiation factor 4 gamma 1 and similar proteins
      pfam02847
      Location:12431355
      MA3; MA3 domain
      pfam02854
      Location:762987
      MIF4G; MIF4G domain
      pfam08648
      Location:11481249
      DUF1777; Protein of unknown function (DUF1777)
    6. NM_198241.3NP_937884.2  eukaryotic translation initiation factor 4 gamma 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (5) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AC078797
      Consensus CDS
      CCDS3259.1
      UniProtKB/Swiss-Prot
      D3DNT2, D3DNT4, D3DNT5, E9PFM1, G5E9S1, O43177, O95066, Q04637, Q5HYG0, Q6ZN21, Q8N102
      UniProtKB/TrEMBL
      B2RU10
      Related
      ENSP00000316879.5, ENST00000346169.7
      Conserved Domains (5) summary
      cd11559
      Location:14381570
      W2_eIF4G1_like; C-terminal W2 domain of eukaryotic translation initiation factor 4 gamma 1 and similar proteins
      PHA03247
      Location:20452
      PHA03247; large tegument protein UL36; Provisional
      PRK12323
      Location:405573
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam02847
      Location:12421354
      MA3; MA3 domain
      pfam02854
      Location:761986
      MIF4G; MIF4G domain
    7. NM_198242.3NP_937885.1  eukaryotic translation initiation factor 4 gamma 1 isoform 3

      See identical proteins and their annotated locations for NP_937885.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and lacks an internal residue, compared to isoform 1.
      Source sequence(s)
      AC078797
      Consensus CDS
      CCDS3261.1
      UniProtKB/TrEMBL
      E7EX73
      Related
      ENSP00000317600.8, ENST00000350481.9
      Conserved Domains (4) summary
      cd11559
      Location:12741406
      W2_eIF4G1_like; C-terminal W2 domain of eukaryotic translation initiation factor 4 gamma 1 and similar proteins
      pfam02847
      Location:10781190
      MA3; MA3 domain
      pfam02854
      Location:597822
      MIF4G; MIF4G domain
      pfam08648
      Location:9831084
      DUF1777; Protein of unknown function (DUF1777)
    8. NM_198244.3NP_937887.2  eukaryotic translation initiation factor 4 gamma 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and lacks an internal residue, compared to isoform 1.
      Source sequence(s)
      AC078797
      Consensus CDS
      CCDS3260.1
      UniProtKB/TrEMBL
      E9PGM1
      Related
      ENSP00000376320.2, ENST00000392537.6
      Conserved Domains (4) summary
      cd11559
      Location:13511483
      W2_eIF4G1_like; C-terminal W2 domain of eukaryotic translation initiation factor 4 gamma 1 and similar proteins
      PHA03247
      Location:28489
      PHA03247; large tegument protein UL36; Provisional
      pfam02847
      Location:11551267
      MA3; MA3 domain
      pfam02854
      Location:674902
      MIF4G; MIF4G domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      184314606..184335358
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      187123882..187144618
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)