JAG1 jagged canonical Notch ligand 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: JAG1provided by HGNC
Official Full Name: jagged canonical Notch ligand 1provided by HGNC
Primary source: HGNC:HGNC:6188
See related: Ensembl:ENSG00000101384 MIM:601920; AllianceGenome:HGNC:6188
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AGS; AHD; AWS; HJ1; AGS1; DCHE; CD339; JAGL1; CMT2HH
Summary: 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]
Expression: Ubiquitous expression in placenta (RPKM 27.7), skin (RPKM 22.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p12.2

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (10637684..10673999, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (10680698..10717017, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (10618332..10654647, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools.
Title: Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools.
Jag1/2 maintain esophageal homeostasis and suppress foregut tumorigenesis by restricting the basal progenitor cell pool.
Title: Jag1/2 maintain esophageal homeostasis and suppress foregut tumorigenesis by restricting the basal progenitor cell pool.
Hypermethylation leads to the loss of HOXA5, resulting in JAG1 expression and NOTCH signaling contributing to kidney fibrosis.
Title: Hypermethylation leads to the loss of HOXA5, resulting in JAG1 expression and NOTCH signaling contributing to kidney fibrosis.
Splicing factor ESRP1 derived circ_0068162 promotes the progression of oral squamous cell carcinoma via the miR-186/JAG axis.
Title: Splicing factor ESRP1 derived circ_0068162 promotes the progression of oral squamous cell carcinoma via the miR-186/JAG axis.
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Title: Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Jagged1 contained in MSC-derived small extracellular vesicles promotes squamous differentiation of cervical cancer by activating NOTCH pathway.
Title: Jagged1 contained in MSC-derived small extracellular vesicles promotes squamous differentiation of cervical cancer by activating NOTCH pathway.
Jagged1 intracellular domain/SMAD3 complex transcriptionally regulates TWIST1 to drive glioma invasion.
Title: Jagged1 intracellular domain/SMAD3 complex transcriptionally regulates TWIST1 to drive glioma invasion.
Jagged1 Acts as an RBP-J Target and Feedback Suppresses TNF-Mediated Inflammatory Osteoclastogenesis.
Title: Jagged1 Acts as an RBP-J Target and Feedback Suppresses TNF-Mediated Inflammatory Osteoclastogenesis.
Annexin A2 Stabilizes Oncogenic JAG1 Intracellular Domain by Inhibiting Proteasomal Degradation in Glioblastoma Cells.
Title: Annexin A2 Stabilizes Oncogenic JAG1 Intracellular Domain by Inhibiting Proteasomal Degradation in Glioblastoma Cells.
Hematopoietic Jagged1 is a fetal liver niche factor required for functional maturation and engraftment of fetal hematopoietic stem cells.
Title: Hematopoietic Jagged1 is a fetal liver niche factor required for functional maturation and engraftment of fetal hematopoietic stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (280)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Alagille syndrome due to a JAG1 point mutation MedGen: C1956125 OMIM: 118450 GeneReviews: Alagille Syndrome	Compare labs
Charcot-Marie-Tooth disease, axonal, Type 2HH MedGen: C5562003 OMIM: 619574 GeneReviews: Not available	Compare labs
Deafness, congenital heart defects, and posterior embryotoxon MedGen: C1866053 OMIM: 617992 GeneReviews: Not available	Compare labs
Tetralogy of Fallot MedGen: C0039685 OMIM: 187500 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-10-19) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-10-19) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of jagged 1 (JAG1; HJ1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Z94359 (e-PCR)
- UniSTS:42767

Jag1 (e-PCR), detects polymorphism
- UniSTS:143636

SHGC-33818 (e-PCR)
- UniSTS:35895

RH123107 (e-PCR)
- UniSTS:135487

PMC111189P2 (e-PCR)
- UniSTS:270221

STS-T96855 (e-PCR)
- UniSTS:31379

JAG1_1238 (e-PCR)
- UniSTS:277396

JAG1_v358 (e-PCR)
- UniSTS:277396

WI-8071 (e-PCR)
- UniSTS:64191

Z94625 (e-PCR)
- UniSTS:32962

WI-12707 (e-PCR)
- UniSTS:44738

WI-17032 (e-PCR)
- UniSTS:13027

D20S1091 (e-PCR)
- UniSTS:473578

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Notch binding	IBA Inferred from Biological aspect of Ancestor more info
enables Notch binding	IPI Inferred from Physical Interaction more info	PubMed
enables Notch binding	NAS Non-traceable Author Statement more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables growth factor activity	NAS Non-traceable Author Statement more info	PubMed
enables molecular adaptor activity	EXP Inferred from Experiment more info	PubMed
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in Notch signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in T cell mediated immunity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in angiogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in aorta morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in aortic valve morphogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in blood vessel remodeling	IEA Inferred from Electronic Annotation more info
involved_in cardiac neural crest cell development involved in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac right ventricle morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell fate determination	NAS Non-traceable Author Statement more info	PubMed
involved_in ciliary body morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in distal tubule development	IEA Inferred from Electronic Annotation more info
involved_in endocardial cushion cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in endothelial cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in hemopoiesis	NAS Non-traceable Author Statement more info	PubMed
involved_in inhibition of neuroepithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in inner ear auditory receptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in loop of Henle development	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of an epithelial sheet	IEA Inferred from Electronic Annotation more info
involved_in myoblast differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell-matrix adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endothelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nephron development	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	NAS Non-traceable Author Statement more info	PubMed
involved_in neuroendocrine cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in neuronal stem cell population maintenance	IEP Inferred from Expression Pattern more info	PubMed
involved_in podocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cardiac epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of myeloid cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pulmonary artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pulmonary valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell population proliferation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in response to muramyl dipeptide	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in adherens junction	ISS Inferred from Sequence or Structural Similarity more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
colocalizes_with membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein jagged-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007496.1 RefSeqGene

Range

5048..41363

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1191

mRNA and Protein(s)

NM_000214.3 → NP_000205.1 protein jagged-1 precursor

See identical proteins and their annotated locations for NP_000205.1

Status: REVIEWED

Source sequence(s)

AA933912, AF028593, AI268246, BF056748, U73936

Consensus CDS

CCDS13112.1

UniProtKB/Swiss-Prot

A0AV43, B4DYR1, E9PCF9, O14902, O15122, P78504, Q15816

UniProtKB/TrEMBL

B2R6U9

Related

ENSP00000254958.4, ENST00000254958.10

Conserved Domains (5) summary

smart00215
Location:863 → 930

VWC_out; von Willebrand factor (vWF) type C domain

cd00054
Location:629 → 665

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00008
Location:748 → 777

EGF; EGF-like domain

pfam01414
Location:167 → 229

DSL; Delta serrate ligand

pfam07657
Location:32 → 106

MNNL; N terminus of Notch ligand