ITLN1 Gene - Intelectin 1
A comprehensive resource for ITLN1, including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | ITLN1 |
|---|---|
| Full Name | Intelectin 1 (galactofuranose binding) |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 55600 ncbi.nlm.nih.gov/gene/55600 |
| Ensembl ID | ENSG00000179914 |
| UniProt ID | Q8WWA0 |
| OMIM ID | 609873 |
| HGNC ID | 18259 |
| Aliases | ITLN, INTL, Omentin, hIntL, endothelial lectin HL-1 |
Description
ITLN1 (Intelectin 1) encodes a galactofuranose-binding lectin that functions in innate immunity, adipokine signaling, and gut homeostasis. It is expressed in intestinal Paneth cells, omental adipose tissue, and vascular endothelium. The protein binds bacterial glycans and may modulate inflammation and insulin sensitivity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coronary artery disease | Reduced ITLN1 expression may impair anti-inflammatory signaling, contributing to atherosclerosis. | PMID: 21193489 |
| Type 2 diabetes | Lower circulating omentin levels are associated with insulin resistance and obesity. | PMID: 21778273 |
| Inflammatory bowel disease | ITLN1 expression is altered in Crohn's disease and ulcerative colitis, affecting mucosal defense. | PMID: 17050646 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 52.3 | High |
| Adipose tissue (omental) | 18.7 | Medium |
| Colon | 15.1 | Medium |
| Heart | 4.2 | Low |
| Lung | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon carcinoma) | 12.5 | Intestinal epithelial model |
| HUVEC (umbilical vein endothelial) | 8.3 | Endothelial expression |
| SW480 (colon adenocarcinoma) | 6.1 | Colorectal cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.326G>A (p.Arg109Gln) | Missense | <0.01% | Unknown functional effect |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Potential loss of glycan binding |
| c.112_113insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants (e.g., c.112_113insA) are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ITLN1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ITLN1.
View complete mutation data：
Gene Ontology (GO)
| • carbohydrate binding | • galactofuranose binding |
| • innate immune response | • defense response to bacterium |
| • extracellular region | • cytoplasm |
Pathways
• Innate immune system (Reactome: R-HSA-168249)
• Adipokine signaling (KEGG: hsa04920)
Protein Summary
ITLN1 encodes a 313-amino acid secreted lectin (omentin) that binds galactofuranose residues on bacterial cell walls. It is involved in opsonization, modulation of insulin signaling, and vascular inflammation. The protein forms homotrimers and is stored in secretory granules of intestinal Paneth cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITLN1 Knockout HEK293 Cell Line | EDJ-KQ12056 | Human | 55600 | Details Get a Quote |
| ITLN1 Knockout HeLa Cell Line | EDJ-KQ56607 | Human | 55600 | Details Get a Quote |
| ITLN1 Knockout A-549 Cell Line | EDJ-KQ65106 | Human | 55600 | Details Get a Quote |
| ITLN1 Knockout HCT 116 Cell Line | EDJ-KQ73552 | Human | 55600 | Details Get a Quote |
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