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

    Gene ID: 182, updated on 5-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See JAG1 in Genome Data Viewer
    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_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC128706665 Neighboring gene uncharacterized LOC128706666 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:10399946-10401145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12671 Neighboring gene NANOG hESC enhancer GRCh37_chr20:10412265-10412766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17543 Neighboring gene MKKS centrosomal shuttling protein Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:10447220-10447919 Neighboring gene SLX4 interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17545 Neighboring gene Sharpr-MPRA regulatory region 2397 Neighboring gene Sharpr-MPRA regulatory region 8388 Neighboring gene Sharpr-MPRA regulatory region 5326 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:10529678-10530178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17547 Neighboring gene Sharpr-MPRA regulatory region 6934 Neighboring gene Sharpr-MPRA regulatory region 11569 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:10578661-10579860 Neighboring gene DNAJC9 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:10617378-10618174 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:10618175-10618971 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:10621299-10622074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:10622075-10622850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12672 Neighboring gene Sharpr-MPRA regulatory region 15707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12673 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12675 Neighboring gene microRNA 6870 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:10686119-10687318 Neighboring gene long intergenic non-protein coding RNA 1752 Neighboring gene uncharacterized LOC107985398

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104644

    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
     

    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.

    Genomic

    1. NG_007496.1 RefSeqGene

      Range
      5048..41363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1191

    mRNA and Protein(s)

    1. NM_000214.3NP_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: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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      10637684..10673999 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      10680698..10717017 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)