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GenoLensGenoLens

MPEG1

Chr 11q12.1

macrophage expressed 1

Aliases:
P2, MPS-1, MPG1
MANE:
ENST00000361050.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • immunodeficiency 77

    0.70
  • primary ciliary dyskinesia

    0.33
  • premature birth

    0.26
  • diabetic ketoacidosis

    0.23
  • complex regional pain syndrome

    0.20
  • Castleman-Kojima disease

    0.11
  • infection

    0.08
  • bronchiolitis obliterans syndrome

    0.04
  • diffuse large B-cell lymphoma

    0.02
  • bacterial infectious disease

    0.02

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

Protein function (UniProt)

Macrophage-expressed gene 1 protein

Pore-forming protein involved in both innate and adaptive immunity (PubMed:23753625, PubMed:26402460, PubMed:28422754, PubMed:30609079, PubMed:31537793, PubMed:33224153). Plays a central role in antigen cross-presentation in dendritic cells by forming a pore in antigen-containing compartments, thereby promoting delivery of antigens for cross-presentation (By similarity). Also involved in innate immune response following bacterial infection; shows antibacterial activity against a wide spectrum of Gram-positive, Gram-negative and acid-fast bacteria (PubMed:23753625, PubMed:26402460, PubMed:28422754, PubMed:30609079, PubMed:33224153). Reduces the viability of the intracytosolic pathogen L.monocytogenes by inhibiting acidification of the phagocytic vacuole of host cells which restricts bacterial translocation from the vacuole to the cytosol (By similarity). Required for the antibacterial activity of reactive oxygen species and nitric oxide (By similarity)

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.