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HYOU1

Chr 11q23.3

hypoxia up-regulated 1

Aliases:
ORP150, HSP12A, Grp170
MANE:
ENST00000617285.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.54
  • granulocytopenia with immunoglobulin abnormality

    0.52
  • dengue disease

    0.37
  • coronary artery disorder

    0.24
  • type 2 diabetes mellitus

    0.12
  • infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

    0.12
  • gallstones

    0.12
  • neoplasm

    0.10
  • obesity disorder

    0.09
  • bilateral striopallidodentate calcinosis

    0.08

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

Protein function (UniProt)

Hypoxia up-regulated protein 1

Has a pivotal role in cytoprotective cellular mechanisms triggered by oxygen deprivation. Promotes HSPA5/BiP-mediated ATP nucleotide exchange and thereby activates the unfolded protein response (UPR) pathway in the presence of endoplasmic reticulum stress (By similarity). May play a role as a molecular chaperone and participate in protein folding

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.