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

    Gene ID: 182, updated on 11-Jul-2021

    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
    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
    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
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    Genomic context

    See JAG1 in Genome Data Viewer
    Location:
    20p12.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (10637684..10673999, complement)
    105.20201022 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 SLX4 interacting protein Neighboring gene Sharpr-MPRA regulatory region 11569 Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 pseudogene Neighboring gene microRNA 6870 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
    • 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 1
    MedGen: C1956125 OMIM: 118450 GeneReviews: Alagille Syndrome
    Compare labs
    Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.
    GeneReviews: Not available
    Deafness, congenital heart defects, and posterior embryotoxon
    MedGen: C1866053 OMIM: 617992 GeneReviews: Not available
    Compare labs
    Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
    GeneReviews: Not available
    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
    GeneReviews: Not available
    Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
    GeneReviews: Not available
    Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.
    GeneReviews: Not available
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    GeneReviews: Not available
    Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
    GeneReviews: Not available
    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

    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

    Homology

    Clone Names

    • MGC104644

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Notch binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 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 involved in heart development IC
    Inferred by Curator
    more info
    PubMed 
    involved_in Notch signaling involved in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 glomerular visceral epithelial cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hemopoiesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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 neuronal stem cell population maintenance IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    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 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 
    located_in integral component of plasma membrane 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 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
      P78504
      UniProtKB/TrEMBL
      Q99740
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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