Jag1 jagged 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Jag1provided by MGI
Official Full Name: jagged 1provided by MGI
Primary source: MGI:MGI:1095416
See related: Ensembl:ENSMUSG00000027276 AllianceGenome:MGI:1095416
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Htu; Ozz; ABE2; Ser-1; Gena228; Gsfabe2
Summary: Enables Notch binding activity. Involved in several processes, including circulatory system development; nephron epithelium development; and positive regulation of Notch signaling pathway. Acts upstream of or within several processes, including ciliary body morphogenesis; negative regulation of cell differentiation; and positive regulation of cell differentiation. Located in adherens junction and apical plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Used to study Alagille syndrome. Human ortholog(s) of this gene implicated in Alagille syndrome; Charcot-Marie-Tooth disease; congenital heart disease; multiple sclerosis; and tetralogy of Fallot. Orthologous to human JAG1 (jagged canonical Notch ligand 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in subcutaneous fat pad adult (RPKM 2.5), CNS E11.5 (RPKM 2.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 F3; 2

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (136923371..136958440, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (137081451..137116520, complement)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Jag1 represses Notch activation in lateral supporting cells and inhibits an outer hair cell fate in the medial cochlea.
Title: Jag1 represses Notch activation in lateral supporting cells and inhibits an outer hair cell fate in the medial cochlea.
Jagged-1+ skin Tregs modulate cutaneous wound healing.
Title: Jagged-1+ skin Tregs modulate cutaneous wound healing.
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.
beta-cell Jagged1 is sufficient but not necessary for islet Notch activity and insulin secretory defects in obese mice.
Title: β-cell Jagged1 is sufficient but not necessary for islet Notch activity and insulin secretory defects in obese mice.
Endothelial Jagged1 levels and distribution are post-transcriptionally controlled by ZFP36 decay proteins.
Title: Endothelial Jagged1 levels and distribution are post-transcriptionally controlled by ZFP36 decay proteins.
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.
ASO silencing of a glycosyltransferase, Poglut1 , improves the liver phenotypes in mouse models of Alagille syndrome.
Title: ASO silencing of a glycosyltransferase, Poglut1 , improves the liver phenotypes in mouse models of Alagille syndrome.
Notch1 and Notch4 core binding domain peptibodies exhibit distinct ligand-binding and anti-angiogenic properties.
Title: Notch1 and Notch4 core binding domain peptibodies exhibit distinct ligand-binding and anti-angiogenic properties.
Notch Signaling Pathway in Tooth Shape Variations throughout Evolution.
Title: Notch Signaling Pathway in Tooth Shape Variations throughout Evolution.

Submit: New GeneRIF Correction See all GeneRIFs (148)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (6) 1 citation
Endonuclease-mediated (8) 1 citation
Gene trapped (2) 1 citation
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC31145P1 (e-PCR)
- UniSTS:233996

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

Jag1 (e-PCR), detects polymorphism
- UniSTS:259624

Jag1 (e-PCR), detects polymorphism
- UniSTS:465456

AW490567 (e-PCR)
- UniSTS:207408

UniSTS:465457 (e-PCR)
- UniSTS:465457

Jag1 (e-PCR), detects polymorphism
- UniSTS:465457

Jag1 (e-PCR), detects polymorphism
- UniSTS:265722

Gene Ontology Provided by MGI

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	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	NAS Non-traceable Author Statement more info	PubMed
enables molecular adaptor activity	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
enables phospholipid binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within Notch signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Notch signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in Notch signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in T cell mediated immunity	IEA Inferred from Electronic Annotation more info
involved_in T cell mediated immunity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aorta morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac neural crest cell development involved in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac right ventricle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ciliary body morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in distal tubule development	IEP Inferred from Expression Pattern more info	PubMed
involved_in endocardial cushion cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inhibition of neuroepithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear auditory receptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear auditory receptor cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in inner ear development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in loop of Henle development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within morphogenesis of an epithelial sheet	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of fat cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of stem cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of stem cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in nephron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuroendocrine cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuronal stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in podocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cardiac epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of myeloid cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in pulmonary artery morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in pulmonary artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in pulmonary valve morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in pulmonary valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of epithelial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to muramyl dipeptide	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: protein jagged-1

Names: Serrate-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.

mRNA and Protein(s)

NM_013822.5 → NP_038850.1 protein jagged-1 precursor

See identical proteins and their annotated locations for NP_038850.1

Status: VALIDATED

Source sequence(s)

AL713981

Consensus CDS

CCDS16797.1

UniProtKB/Swiss-Prot

Q9QXX0

UniProtKB/TrEMBL

Q3UVN4

Related

ENSMUSP00000028735.8, ENSMUST00000028735.8

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

136923371..136958440 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011239312.4 → XP_011237614.1 protein jagged-1 isoform X1

Conserved Domains (4) summary

smart00215
Location:704 → 771

VWC_out; von Willebrand factor (vWF) type C domain

cd00054
Location:470 → 506

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:589 → 618

EGF; EGF-like domain

pfam01414
Location:8 → 70

DSL; Delta serrate ligand