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    Jag1 jagged 1 [ Mus musculus (house mouse) ]

    Gene ID: 16449, updated on 9-Dec-2024

    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
    NEW
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    Genomic context

    See Jag1 in Genome Data Viewer
    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_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_05805 Neighboring gene predicted gene, 46767 Neighboring gene STARR-positive B cell enhancer ABC_E1010 Neighboring gene McKusick-Kaufman syndrome Neighboring gene SLX4 interacting protein Neighboring gene STARR-seq mESC enhancer starr_05810 Neighboring gene STARR-seq mESC enhancer starr_05811 Neighboring gene predicted gene, 39944 Neighboring gene predicted gene, 54135

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    protein jagged-1
    Names
    Serrate-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_013822.5NP_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:863930
      VWC_out; von Willebrand factor (vWF) type C domain
      cd00054
      Location:629665
      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:748777
      EGF; EGF-like domain
      pfam01414
      Location:167229
      DSL; Delta serrate ligand
      pfam07657
      Location:32106
      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

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      136923371..136958440 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (4) summary
      smart00215
      Location:704771
      VWC_out; von Willebrand factor (vWF) type C domain
      cd00054
      Location:470506
      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:589618
      EGF; EGF-like domain
      pfam01414
      Location:870
      DSL; Delta serrate ligand