HAVCR1 (Hepatitis A Virus Cellular Receptor 1)
A key immunomodulatory receptor and biomarker in kidney injury and cancer
Gene Information Card
| Symbol | HAVCR1 |
|---|---|
| Full Name | Hepatitis A Virus Cellular Receptor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.3 |
| NCBI Gene ID | 26762 ncbi.nlm.nih.gov/gene/26762 |
| Ensembl ID | ENSG00000113249 |
| UniProt ID | Q96D42 |
| OMIM ID | 606518 |
| HGNC ID | 17865 |
| Aliases | TIM-1, KIM-1, TIMD1, CD365, HAVCR-1 |
Description
HAVCR1 encodes a type I transmembrane glycoprotein that belongs to the T-cell immunoglobulin and mucin domain (TIM) family. It is expressed on various immune cells and epithelial cells, particularly in the kidney. HAVCR1 functions as a receptor for hepatitis A virus and plays roles in T-cell regulation, tissue repair, and apoptotic cell clearance. Its expression is markedly upregulated in injured renal proximal tubules, making it a sensitive biomarker for kidney injury. Additionally, HAVCR1 is implicated in cancer progression and immune evasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Kidney Injury | Upregulation of HAVCR1 in proximal tubular cells after injury; promotes phagocytosis of apoptotic cells and tissue repair. | Clinical studies show elevated urinary KIM-1 levels in AKI patients (PMID: 12039988). |
| Renal Cell Carcinoma | Overexpression in tumor cells; may promote tumor growth and metastasis via immune modulation. | Immunohistochemistry and transcriptomic data (TCGA) show high HAVCR1 expression in RCC (PMID: 23348508). |
| Hepatitis A Virus Infection | Acts as a cellular receptor for HAV, facilitating viral entry. | Functional studies demonstrate HAV binding to HAVCR1 (PMID: 8898235). |
| Asthma and Allergic Diseases | Regulates Th2 cell differentiation and cytokine production, contributing to allergic inflammation. | Genetic association studies link HAVCR1 variants to asthma susceptibility (PMID: 12897778). |
| Autoimmune Diseases | Modulates T-cell responses and may influence autoimmunity. | Experimental models show altered HAVCR1 signaling in autoimmune conditions (PMID: 16116184). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | High expression in proximal tubules |
| Testis | 4.5 | Moderate expression |
| Liver | 2.1 | Low expression |
| Lung | 1.8 | Low expression |
| Spleen | 1.2 | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | Kidney embryonic cells; high expression |
| A549 | 3.2 | Lung carcinoma; moderate expression |
| HepG2 | 2.5 | Liver carcinoma; low expression |
| Jurkat | 1.1 | T-cell leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs157189 | SNP | 5% | Associated with altered HAVCR1 expression and asthma risk |
| rs12522290 | SNP | 3% | Linked to kidney injury susceptibility |
| c.128A>G | Missense | Rare | May affect protein function; clinical significance uncertain |
| c.356C>T | Missense | Rare | Potential impact on ligand binding |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in HAVCR1 are rare and may impair immune regulation, leading to increased susceptibility to infections or autoimmune conditions.
Gain of Function (GOF)
Gain-of-function mutations could enhance receptor signaling, potentially promoting tumor growth or exaggerated inflammatory responses.
Dominant Negative (DN)
Dominant-negative effects have not been well characterized for HAVCR1; however, certain variants may interfere with normal receptor function.
View complete mutation data：
Gene Ontology (GO)
| • viral receptor activity | • phosphatidylserine binding |
| • protein homodimerization activity | • regulation of T cell activation |
| • apoptotic cell clearance | • cell adhesion |
Pathways
• Hepatitis A virus entry pathway
• T cell receptor signaling pathway
• Phagocytosis and efferocytosis pathway
• Cytokine-cytokine receptor interaction
Protein Summary
The HAVCR1 protein (TIM-1/KIM-1) is a 359-amino acid type I membrane protein with an N-terminal immunoglobulin-like domain, a mucin-like domain, a transmembrane region, and a cytoplasmic tail. It is heavily glycosylated and expressed on the cell surface. The protein mediates cell adhesion, recognizes phosphatidylserine on apoptotic cells, and regulates immune responses. In the kidney, it is induced upon injury and participates in tubular repair. Its extracellular domain can be cleaved and released into urine, serving as a diagnostic biomarker.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HAVCR1 Knockout HEK293 Cell Line | EDJ-KQ17753 | Human | 26762 | Details Get a Quote |
| HAVCR1 Knockout A-549 Cell Line | EDJ-KQ19822 | Human | 26762 | Details Get a Quote |
| HAVCR1 Knockout HeLa Cell Line | EDJ-KQ55973 | Human | 26762 | Details Get a Quote |
| HAVCR1 Knockout HCT 116 Cell Line | EDJ-KQ72916 | Human | 26762 | Details Get a Quote |
