JAG1 Gene

HGNC Family	CD molecules (CD)
Name	jagged 1
Description	The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Jagged1 is a multifunctional Notch ligand that plays diverse roles in both normal development and disease. In the vasculature, Jagged1 functions as a proangiogenic regulator by countering Delta‐like 4 (Dll4)–mediated Notch signaling in endothelial cells, thereby modulating the balance between tip and stalk cell formation and controlling vessel sprouting and branching."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In several cancers, Jagged1 expression is up‐regulated and contributes to tumor progression through multiple mechanisms. For example, in breast cancer, IL‑6 acting via Notch‑3 induces Jagged1 expression, which in turn promotes spheroid growth, enhances cell survival, and facilitates development of a hypoxia‐resistant/invasive phenotype"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", while in pancreatic cancer Jagged1 up‐regulation downstream of Notch‑2 is associated with the acquisition of an epithelial–mesenchymal transition (EMT) and chemoresistance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In gliomas and lymphomas, Jagged1 is part of an autocrine/juxtacrine Notch signaling loop that is critical for sustaining cell proliferation and inhibiting apoptosis; down‐regulation of Jagged1 in these tumors leads to reduced viability and slower tumor progression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In the context of bone metastasis from breast cancer, tumor cell–derived Jagged1 not only activates Notch in bone stromal cells to stimulate IL‑6 release but also directly triggers osteoclast differentiation, thereby promoting metastatic colonization in bone."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Jagged1’s importance is further underscored by its role in development; germline mutations in the JAG1 gene cause Alagille syndrome, a multisystem disorder that highlights its critical function in normal organogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Moreover, aberrant expression of Jagged1 in osteoblasts—driven by activated β‑catenin signaling—leads to paracrine activation of Notch in hematopoietic progenitors and contributes to the pathogenesis of acute myeloid leukemia."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " In colorectal cancer, a soluble form of Jagged1 released by endothelial cells (via ADAM17 activity) acts in a paracrine manner to activate Notch signaling in tumor cells, thereby enhancing the cancer stem cell phenotype"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": ", while beta‐catenin–mediated transcriptional up‐regulation of Jagged1 sustains Notch activation and tumorigenesis in the intestinal epithelium."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, transcription factors such as ZEB1 can drive Jagged1 expression by repressing microRNAs that normally target Notch pathway components, thereby enhancing Notch activity and facilitating tumor progression in aggressive cancers."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": " Finally, dynamic changes in Jagged1-mediated Notch signaling have been implicated in regulating the secretome of senescent cells, where a shift in Notch activity influences a balance between pro‑inflammatory cytokines and TGF‑β, affecting senescence surveillance and tissue remodeling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Rui Benedito, Cristina Roca, Inga Sörensen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The notch ligands Dll4 and Jagged1 have opposing effects on angiogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2009.03.025"}], "href": "https://doi.org/10.1016/j.cell.2009.03.025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19524514"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19524514"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Pasquale Sansone, Gianluca Storci, Simona Tavolari, et al. "}, {"type": "b", "children": [{"type": "t", "text": "IL-6 triggers malignant features in mammospheres from human ductal breast carcinoma and normal mammary gland."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI32533"}], "href": "https://doi.org/10.1172/JCI32533"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18060036"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18060036"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Zhiwei Wang, Yiwei Li, Dejuan Kong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Acquisition of epithelial-mesenchymal transition phenotype of gemcitabine-resistant pancreatic cancer cells is linked with activation of the notch signaling pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-08-4312"}], "href": "https://doi.org/10.1158/0008-5472.CAN-08-4312"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19276344"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19276344"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Benjamin W Purow, Raqeeb M Haque, Martha W Noel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of Notch-1 and its ligands, Delta-like-1 and Jagged-1, is critical for glioma cell survival and proliferation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-04-1890"}], "href": "https://doi.org/10.1158/0008-5472.CAN-04-1890"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15781650"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15781650"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Franziska Jundt, Ioannis Anagnostopoulos, Reinhold Förster, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Activated Notch1 signaling promotes tumor cell proliferation and survival in Hodgkin and anaplastic large cell lymphoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood.v99.9.3398"}], "href": "https://doi.org/10.1182/blood.v99.9.3398"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11964309"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11964309"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Nilay Sethi, Xudong Dai, Christopher G Winter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tumor-derived JAGGED1 promotes osteolytic bone metastasis of breast cancer by engaging notch signaling in bone cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Cell (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ccr.2010.12.022"}], "href": "https://doi.org/10.1016/j.ccr.2010.12.022"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21295524"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21295524"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ryan McDaniell, Daniel M Warthen, Pedro A Sanchez-Lara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/505332"}], "href": "https://doi.org/10.1086/505332"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16773578"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16773578"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Aruna Kode, John S Manavalan, Ioanna Mosialou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Leukaemogenesis induced by an activating β-catenin mutation in osteoblasts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature12883"}], "href": "https://doi.org/10.1038/nature12883"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24429522"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24429522"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Jia Lu, Xiangcang Ye, Fan Fan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Endothelial cells promote the colorectal cancer stem cell phenotype through a soluble form of Jagged-1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Cell (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ccr.2012.12.021"}], "href": "https://doi.org/10.1016/j.ccr.2012.12.021"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23375636"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23375636"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Verónica Rodilla, Alberto Villanueva, Antonia Obrador-Hevia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Jagged1 is the pathological link between Wnt and Notch pathways in colorectal cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0813221106"}], "href": "https://doi.org/10.1073/pnas.0813221106"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19325125"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19325125"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Simone Brabletz, Karolina Bajdak, Simone Meidhof, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The ZEB1/miR-200 feedback loop controls Notch signalling in cancer cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/emboj.2010.349"}], "href": "https://doi.org/10.1038/emboj.2010.349"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21224848"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21224848"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Matthew Hoare, Yoko Ito, Tae-Won Kang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NOTCH1 mediates a switch between two distinct secretomes during senescence."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Cell Biol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncb3397"}], "href": "https://doi.org/10.1038/ncb3397"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27525720"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27525720"}]}]}]}
Synonyms	AGS1, JAGL1, AHD, AGS, AWS, HJ1, DCHE, CD339
Proteins	JAG1_HUMAN
NCBI Gene ID	182
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

JAG1 has 16,466 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 141 datasets.

Click the + buttons to view associations for JAG1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

JAG1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of JAG1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of JAG1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of JAG1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of JAG1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of JAG1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of JAG1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of JAG1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of JAG1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of JAG1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of JAG1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of JAG1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of JAG1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with JAG1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with JAG1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with JAG1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of JAG1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of JAG1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of JAG1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with JAG1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with JAG1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of JAG1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing JAG1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing JAG1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing JAG1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing JAG1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with JAG1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with JAG1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of JAG1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with JAG1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with JAG1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with JAG1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with JAG1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of JAG1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by JAG1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving JAG1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving JAG1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with JAG1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with JAG1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with JAG1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with JAG1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.