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HAVCR1

Chr 5q33.3

hepatitis A virus cellular receptor 1

Aliases:
HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1
MANE:
ENST00000523175.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    Unknown

Disease associations (Open Targets)

  • dengue disease

    0.54
  • COVID-19

    0.48
  • metabolic disease

    0.46
  • familial hyperlipidemia

    0.29
  • alcohol drinking

    0.25
  • self-injurious ideation

    0.18
  • acute kidney injury

    0.12
  • chronic kidney disease

    0.11
  • neoplasm

    0.11
  • type 1 diabetes mellitus

    0.10

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

Protein function (UniProt)

Hepatitis A virus cellular receptor 1

Phosphatidylserine receptor that plays an important functional role in regulatory B-cell homeostasis including generation, expansion and suppressor functions (PubMed:18082433, PubMed:18414680). Involved in efferocytosis, the process by which apoptotic cells are removed, by binding to phosphatidylserine present on apoptotic cells and promoting their engulfment (PubMed:18082433). Confers phagocytic ability on injured kidney epithelial cells, allowing them to bind to and internalize apoptotic bodies and necrotic debris following kidney injury (PubMed:17471468, PubMed:18414680). The ectodomain binds to the surface of apoptotic kidney epithelial cells via phosphatidylserine and oxidized phospholipids exposed on the cell membrane of the apoptotic cells (PubMed:18414680). HAVCR1-expressing cells are also capable of phagocytosing Gram-negative and Gram-positive bacteria (PubMed:18414680). As P-selectin/SELPLG ligand, plays a specialized role in activated but not naive T-cell trafficking during inflammatory responses (PubMed:24703780). Controls thereby T-cell accumulation in the inflamed central nervous system (CNS) and the induction of autoimmune disease (PubMed:24703780). Acts as a regulator of T-cell proliferation (By similarity). Also regulates expression of various anti-inflammatory cytokines and co-inhibitory ligands including IL10 (By similarity)

Curated MONDO disease pages that list HAVCR1 among their top associated genes.

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.