JAG1 Gene: Jagged Canonical Notch Ligand 1
Key regulator of Notch signaling in development and disease
Gene Information Card
| Symbol | JAG1 |
|---|---|
| Full Name | jagged canonical Notch ligand 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p12.2 |
| NCBI Gene ID | 182 ncbi.nlm.nih.gov/gene/182 |
| Ensembl ID | ENSG00000101384 |
| UniProt ID | P78504 |
| OMIM ID | 601920 |
| HGNC ID | 6188 |
| Aliases | AGS, AHD, AWS, HJ1, JAGL1, CD339 |
Description
JAG1 encodes Jagged1, a transmembrane ligand in the Notch signaling pathway. It binds Notch receptors (NOTCH1–4) to regulate cell fate decisions during development. Mutations in JAG1 cause Alagille syndrome, a multisystem disorder affecting liver, heart, skeleton, and eyes. Aberrant JAG1 expression is also implicated in several cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alagille syndrome 1 (ALGS1) | Loss-of-function mutations in JAG1 reduce Notch signaling, disrupting bile duct and heart development. | OMIM #118450; NCBI Gene; ClinVar |
| Tetralogy of Fallot | JAG1 haploinsufficiency impairs cardiac neural crest cell differentiation. | OMIM #187500; NCBI Gene |
| Breast cancer | JAG1 overexpression activates Notch signaling, promoting tumor growth and metastasis. | COSMIC; PubMed studies |
| Colorectal cancer | JAG1 upregulation correlates with poor prognosis and stem cell maintenance. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Lung | 6.2 | Low |
| Kidney | 5.1 | Low |
| Brain | 3.4 | Low |
| Pancreas | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocellular carcinoma cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| A549 | 6.1 | Lung adenocarcinoma cell line |
| K562 | 4.3 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2122C>T (p.Arg708*) | Nonsense | ~5% in ALGS1 | Premature stop; loss of function |
| c.1670delG (p.Gly557Valfs*12) | Frameshift | ~3% in ALGS1 | Loss of function |
| c.2345G>A (p.Arg782His) | Missense | <1% | Reduced ligand-receptor binding |
| c.1837C>T (p.Arg613Trp) | Missense | <1% | Dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
Most JAG1 mutations in Alagille syndrome are loss-of-function (nonsense, frameshift, splice-site), leading to haploinsufficiency.
Gain of Function (GOF)
Gain-of-function mutations are rare but reported in some cancers (e.g., missense variants increasing Notch activation).
Dominant Negative (DN)
Certain missense mutations (e.g., p.Arg613Trp) produce a truncated or misfolded protein that interferes with wild-type Jagged1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG hsa04330)
• Signaling by Notch (Reactome R-HSA-157118)
• Pre-NOTCH expression and processing (Reactome R-HSA-1912408)
Protein Summary
Jagged1 (UniProt P78504) is a 1218-amino acid type I transmembrane protein. It contains an N-terminal DSL (Delta/Serrate/Lag-2) domain, multiple EGF-like repeats, a cysteine-rich region, a transmembrane domain, and a short intracellular tail. The extracellular domain mediates Notch receptor binding, while the intracellular region is involved in receptor activation and endocytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JAG1 Knockout HEK293 Cell Line | EDJ-KQ427 | Human | 182 | Details Get a Quote |
| JAG1 Knockout A-549 Cell Line | EDJ-KQ17998 | Human | 182 | Details Get a Quote |
| JAG1 Knockout HCT 116 Cell Line | EDJ-KQ18712 | Human | 182 | Details Get a Quote |
| JAG1 Knockout HeLa Cell Line | EDJ-KQ18713 | Human | 182 | Details Get a Quote |
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