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EIF4G1

Chr 3q27.1

eukaryotic translation initiation factor 4 gamma 1

Aliases:
p220, PARK18
MANE:
ENST00000346169.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Adult onset dystonia, chorea or related movement disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Adult onset neurodegenerative disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Parkinson Disease and Complex Parkinsonism

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Hereditary late-onset Parkinson disease

    0.60
  • neurodegenerative disease

    0.50
  • dengue disease

    0.37
  • Young adult-onset Parkinsonism

    0.23
  • preeclampsia

    0.18
  • late-onset Parkinson disease

    0.13
  • Parkinson disease

    0.13
  • non-small cell lung carcinoma

    0.11
  • neoplasm

    0.11
  • cancer

    0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Eukaryotic translation initiation factor 4 gamma 1

Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome (PubMed:29987188). Exists in two complexes, either with EIF1 or with EIF4E (mutually exclusive) (PubMed:29987188). Together with EIF1, is required for leaky scanning, in particular for avoiding cap-proximal start codon (PubMed:29987188). Together with EIF4E, antagonizes the scanning promoted by EIF1-EIF4G1 and locates the start codon (through a TISU element) without scanning (PubMed:29987188). As a member of the eIF4F complex, required for endoplasmic reticulum stress-induced ATF4 mRNA translation (PubMed:29062139)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.