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    JAG1 jagged 1 [ Homo sapiens (human) ]

    Gene ID: 182, updated on 18-Sep-2016
    Official Symbol
    JAG1provided by HGNC
    Official Full Name
    jagged 1provided by HGNC
    Primary source
    HGNC:HGNC:6188
    See related
    Ensembl:ENSG00000101384 HPRD:03562; MIM:601920; Vega:OTTHUMG00000031872
    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; 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 a human homolog of the Drosophilia jagged receptor notch. 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, Jul 2008]
    Orthologs
    Location:
    20p12.1-p11.23
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (10637684..10674046, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (10618332..10654694, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene McKusick-Kaufman syndrome Neighboring gene SLX4 interacting protein Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 pseudogene Neighboring gene microRNA 6870 Neighboring gene uncharacterized LOC101929395 Neighboring gene uncharacterized LOC107985398

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Alagille syndrome 1
    MedGen: C1956125 OMIM: 118450 GeneReviews: Alagille Syndrome
    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 (2012-04-05)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-05)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

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

    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

    • Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystem (from REACTOME)
      Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystemMature NOTCH1 heterodimer on the cell surface is activated by one of its ligands: DLL1 (Cordle et al. 2008, Jarriault et al. 1998), DLL4 (Benedito et al. 2009), JAG1 (Li et al. 1998, Benedito et al. ...
    • Constitutive Signaling by NOTCH1 HD Domain Mutants, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 HD Domain Mutants, organism-specific biosystemThe heterodimerization (HD) domain of NOTCH1, responsible for association of NOTCH1 extracellular and transmembrane regions after furin-mediated cleavage of NOTCH1 precursor, is one of the hotspots f...
    • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystemWhen found in cis, HD and PEST domain mutations act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold, compared with up to ~10-fold and up to ~2-fold increase with HD mutatio...
    • Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystemAs NOTCH1 PEST domain is intracellular, NOTCH1 PEST domain mutants are expected to behave as the wild-type NOTCH1 with respect to ligand binding and proteolytic cleavage mediated activation of signal...
    • Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemNOTCH1 t(7;9)(NOTCH1:M1580_K2555) mutant is expressed in a small subset of T-cell acute lymphoblastic leukemia (T-ALL) patients. This mutant protein results from a translocation that joins a portion ...
    • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Endocrine resistance, organism-specific biosystem (from KEGG)
      Endocrine resistance, organism-specific biosystemEndocrine therapy is a key treatment strategy to control or eradicate hormone-responsive breast cancer. The most commonly used endocrine therapy agents are selective estrogen receptor modulators (SER...
    • Endocrine resistance, conserved biosystem (from KEGG)
      Endocrine resistance, conserved biosystemEndocrine therapy is a key treatment strategy to control or eradicate hormone-responsive breast cancer. The most commonly used endocrine therapy agents are selective estrogen receptor modulators (SER...
    • NOTCH2 Activation and Transmission of Signal to the Nucleus, organism-specific biosystem (from REACTOME)
      NOTCH2 Activation and Transmission of Signal to the Nucleus, organism-specific biosystemSimilar to NOTCH1, NOTCH2 is activated by Delta-like and Jagged ligands (DLL/JAG) expressed in trans on a neighboring cell (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004...
    • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, organism-specific biosystem (from KEGG)
      Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Notch signaling pathway, organism-specific biosystem
      Notch signaling pathway
    • Notch signaling pathway, conserved biosystem (from KEGG)
      Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
    • Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystemNOTCH1 heterodimerization domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL) (Weng et al. 2004) and result in constitutive activity of NOTCH1 mutants (Malecki et al....
    • Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystemMutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increas...
    • Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystemNOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prol...
    • Signaling by NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 in Cancer, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). This tra...
    • Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). The tran...
    • Signaling by NOTCH2, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH2, organism-specific biosystemNOTCH2 is activated by binding Delta-like and Jagged ligands (DLL/JAG) expressed in trans on neighboring cells (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004). In trans ...
    • Signaling by NOTCH3, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH3, organism-specific biosystemSimilar to NOTCH1, NOTCH3 is activated by delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell. The activation triggers cleavage of NOTCH3, first by ADAM10 at the S2 cleav...
    • Signaling by NOTCH4, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH4, organism-specific biosystemSimilar to NOTCH1, NOTCH4 is activated by delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell. The activation triggers cleavage of NOTCH4, first by ADAM10 at the S2 cleav...
    • TNF signaling pathway, organism-specific biosystem (from KEGG)
      TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
    • TNF signaling pathway, conserved biosystem (from KEGG)
      TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC104644

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Notch binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Notch binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    growth factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural molecule activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    Notch receptor processing TAS
    Traceable Author Statement
    more info
     
    Notch signaling involved in heart development IC
    Inferred by Curator
    more info
    PubMed 
    Notch signaling involved in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Notch signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Notch signaling pathway TAS
    Traceable Author Statement
    more info
     
    T cell mediated immunity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    angiogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    auditory receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac neural crest cell development involved in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac right ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell fate determination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ciliary body morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    distal tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    endocardial cushion cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endothelial cell differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    glomerular visceral epithelial cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hemopoiesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    keratinocyte differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    loop of Henle development IEA
    Inferred from Electronic Annotation
    more info
     
    morphogenesis of an epithelial sheet IEA
    Inferred from Electronic Annotation
    more info
     
    myoblast differentiation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nephron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nervous system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neuronal stem cell population maintenance IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    positive regulation of Notch signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of myeloid cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pulmonary artery morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pulmonary valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell migration NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of cell proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to muramyl dipeptide IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    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
      5001..41363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000214.2NP_000205.1  protein jagged-1 precursor

      See identical proteins and their annotated locations for NP_000205.1

      Status: REVIEWED

      Source sequence(s)
      AF028593, AI268246, BF056748, U73936, U77914
      Consensus CDS
      CCDS13112.1
      UniProtKB/Swiss-Prot
      P78504
      UniProtKB/TrEMBL
      Q99740
      Related
      ENSP00000254958, OTTHUMP00000274627, ENST00000254958, OTTHUMT00000077998
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      10637684..10674046 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027707.1XP_016883196.1  

      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

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      10618904..10655234 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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