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FLASH GENE
Symbol HAVCR1 contributors: mct/npt/pgu - updated : 11-04-1201
HGNC name hepatitis A virus cellular receptor 1
HGNC id 17866
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestine    
Urinarykidneytubuleconvoluted tubuleproximal tubule 
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/lininguroepithelium  
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
Epithelialsensoryvisual  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • extracellular domain
  • an immunoglobulin-like domain topping a long mucin-like domain, a structure that points to a possible role in cell adhesion by homology to several known adhesion proteins
  • a signal sequence
  • a 109-amino acid cys-rich N-terminal region
  • one conserved N-glycosylation site
  • a 163-amino acid TSP-rich region with 3 N-glycosylation sites
  • conjugated HemoP
    HOMOLOGY
    interspecies ortholog to murine Havcr1
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • TIM family
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type 1 transmembrane protein
    basic FUNCTION
  • having a possible role in cell adhesion
  • putative adhesion protein involved in renal regeneration
  • playing a role in T helper cell development and the regulation of asthma and allergic diseases
  • phosphatidylserine receptors for the engulfment of apoptotic cells, and may also be involved in intercellular signaling in which exosomes are involved
  • endogenous ciliary receptor which interacts with PKD2
  • recruited to the TCR-signaling complex via association with CD3
  • critical component of the human T cell response
  • HAVCR1-signaling in B cells augments antibody production by enhancing B cell proliferation and differentiation
  • may be involved in the differentiation of B cells to plasma cells
  • a mucin domain-dependent protective effect of epithelial HAVCR1 expression that involves downregulation of innate immunity
  • HAVCR1-mediated epithelial cell phagocytosis of apoptotic cells protects the kidney after acute injury by downregulating innate immunity and inflammation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with PKD2 requires the ciliary sorting motif in the N-terminus of PKD2, and the presence of a highly conserved tyrosine in the intracellular tail of HAVCR1, which has previously been shown to play a role in ciliary flow sensing
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in urine of patients with renal acute tubular necrosis or proximal tubule injury
    tumoral     --over  
    in clear cell renal cell carcinoma
    constitutional     --over  
    in tubular epithelial cells after ischemia and exposure to nephrotoxins
    constitutional     --over  
    in the epithelia lining the cysts of polycystic kidneys
    Susceptibility
  • to atopic dermatitis susceptibility
  • to autoimmune diseases
  • Variant & Polymorphism other
  • 5383_5397del variation site of exon 4 might be associated with atopic dermatitis susceptibility
  • haplotypes associated with mRNA expression levels and susceptibility to autoimmune diseases
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS