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JAG1 Gene

protein-coding   GIFtS: 75
GCID: GC20M010618

Jagged 1

(Previous name: Alagille syndrome)
(Previous symbols: AGS, JAGL1)
  See JAG1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Jagged 11 2     CD3392
JAGL11 2 3     HJ12
AGS1 2 5     Protein Jagged-12
AHD2 5     Jagged13
Alagille Syndrome1     CD339 Antigen3
AWS2     hJ13

External Ids:    HGNC: 61881   Entrez Gene: 1822   Ensembl: ENSG000001013847   OMIM: 6019205   UniProtKB: P785043   

Export aliases for JAG1 gene to outside databases

Previous GC identifers: GC20M010606 GC20M010613 GC20M010566 GC20M010569


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for JAG1 Gene:
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)

GeneCards Summary for JAG1 Gene:
JAG1 (jagged 1) is a protein-coding gene. Diseases associated with JAG1 include pseudopapilledema, and jag1-related alagille syndrome. GO annotations related to this gene include growth factor activity and calcium ion binding. An important paralog of this gene is DLK2.

UniProtKB/Swiss-Prot: JAG1_HUMAN, P78504
Function: Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in
cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian
cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth
factor-induced angiogenesis (in vitro)

Gene Wiki entry for JAG1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011387.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the JAG1 gene promoter:
         NF-1   p53   HTF   CUTL1   STAT5A   HNF-3beta   FOXL1   Gfi-1   AREB6   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): JAG1 promoter sequence
   Search Chromatin IP Primers for JAG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat JAG1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12.1-p11.23   Ensembl cytogenetic band:  20p12.2   HGNC cytogenetic band: 20p12.1-p11.23

JAG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAG1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M010618:  view genomic region     (about GC identifiers)

Start:
10,618,332 bp from pter      End:
10,654,694 bp from pter
Size:
36,363 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: JAG1_HUMAN, P78504 (See protein sequence)
Recommended Name: Protein jagged-1 precursor  
Size: 1218 amino acids; 133799 Da
Subunit: Interacts with NOTCH2 and NOTCH3 (By similarity). Interacts with NOTCH1 (in the presence of calcium ions)
Developmental stage: Expressed in 32-52 days embryos in the distal cardiac outflow tract and pulmonary artery,
major arteries, portal vein, optic vesicle, otocyst, branchial arches, metanephros, pancreas, mesocardium, around
the major bronchial branches, and in the neural tube
Sequence caution: Sequence=AAC51323.1; Type=Frameshift; Positions=1187;
5 PDB 3D structures from and Proteopedia for JAG1:
2KB9 (3D)        2VJ2 (3D)        4CBZ (3D)        4CC0 (3D)        4CC1 (3D)    
Secondary accessions: A0AV43 O14902 O15122 Q15816

Explore the universe of human proteins at neXtProt for JAG1: NX_P78504

Explore proteomics data for JAG1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1123
  • Glycosylation2 at Asn143, Asn217, Asn382, Asn559, Asn745, Asn960, Asn991, Asn1045, Asn1064
  • Modification sites at PhosphoSitePlus

  • See JAG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000205.1  
    ENSEMBL proteins: 
     ENSP00000254958   ENSP00000389519  
    Reactome Protein details: P78504

    JAG1 Human Recombinant Protein Products:

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    antibodies-online proteins for JAG1 (19 products) 

     
    antibodies-online peptides for JAG1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    Selected InterPro protein domains (see all 10):
     IPR001774 DSL
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR011651 Notch_ligand_N

    Graphical View of Domain Structure for InterPro Entry P78504

    ProtoNet protein and cluster: P78504

    5 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001438 Type II EGF-like signature
    IPB001774 Delta/Serrate/lag-2 (DSL) protein
    IPB001881 EGF-like calcium-binding
    IPB011651 Notch ligand


    UniProtKB/Swiss-Prot: JAG1_HUMAN, P78504
    Domain: The second EGF-like domain is atypical
    Similarity: Contains 1 DSL domain
    Similarity: Contains 16 EGF-like domains


    Find genes that share domains with JAG1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: JAG1_HUMAN, P78504
    Function: Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in
    cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian
    cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth
    factor-induced angiogenesis (in vitro)

         Genatlas biochemistry entry for JAG1:
    NOTCH1 ligand,homolog to rat jagged 1 and Drosophila serrate,Rel/NFKB responsive gene,expressed in fetal heart at
    early and late stages of cardiovascular-development,liver,mutated in Alagille syndrome

         Summary: 
    During embryonic development, JAG1 as signaling molecule is secreted from the following cells:
                
    Liver: Pericytes (Sinusoids)

    It affects the following cells:
    Liver: Hepatoblasts (Liver Bud), Immature Biliary Epithelial Cells (Intrahepatic Biliary Tree)       to see all 2 cells
    Kidney: Distal Renal Vesicle Cells (Renal Vesicle), Proximal Renal Vesicle Cells (Renal Vesicle)       to see all 2 cells

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005112Notch binding NAS9268641
    GO:0005198structural molecule activity NAS10679295
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
    GO:0008083growth factor activity NAS11067884
         
    Find genes that share ontologies with JAG1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for JAG1:
     Increased G1 DNA content 

         Selected MGI mutant phenotypes (inferred from 16 alleles(MGI details for Jag1) (see all 21):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  integument  liver/biliary system  mortality/aging  muscle 

    Find genes that share phenotypes with JAG1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for JAG1: Jag1tm1.1Vtlr Jag1tm2.1Grid Jag1tm1Grid

       genOway: Develop your customized and physiologically relevant rodent model for JAG1

    miRNA
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    Block miRNA regulation of human, mouse, rat JAG1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate JAG1 (see all 62):
    hsa-miR-140-5p hsa-miR-579 hsa-miR-4317 hsa-miR-607 hsa-miR-300 hsa-miR-4272 hsa-miR-485-3p hsa-miR-1245
    SwitchGear 3'UTR luciferase reporter plasmidJAG1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat JAG1

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    Addgene plasmids for JAG1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    JAG1_HUMAN, P78504: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytoskeleton2
    nucleus2
    endoplasmic reticulum1
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS11427524
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane NAS11427524
    GO:0016020membrane TAS9268641
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with JAG1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for JAG1 About   (see all 12)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway (KEGG)
    Notch signaling pathway0.84
    Signaling by NOTCH30.00
    Notch Signaling Pathway0.84
    Signaling by NOTCH40.00
    Delta-Notch Signaling Pathway0.33
    2Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH10.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    3Signaling by NOTCH2
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.67
    Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1-M1580_K2555) Translocation Mutant0.00
    Signaling by NOTCH20.67
    Constitutive Signaling by NOTCH1 HD Domain Mutants0.00
    Activated NOTCH1 Transmits Signal to the Nucleus0.61
    4Development NOTCH1 mediated pathway for NF KB activity modulation
    Development NOTCH1 mediated pathway for NF KB activity modulation0.50
    Development Notch Signaling Pathway0.50
    5Signaling by GPCR
    Signal Transduction0.58


    Find genes that share SuperPaths with JAG1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for JAG1
        Notch Signaling Pathways


    2 Cell Signaling Technology (CST) Pathways for JAG1
        Wnt / Hedgehog / Notch
    Angiogenesis

    2 GeneGo (Thomson Reuters) Pathways for JAG1
        Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development Notch Signaling Pathway

    3 BioSystems Pathways for JAG1
        Notch Signaling Pathway
    Delta-Notch Signaling Pathway
    Notch signaling pathway

    1 Sino Biological Pathway for JAG1
        Notch Signaling Pathway

    Selected Reactome Pathways for JAG1 (see all 8)
        NOTCH2 Activation and Transmission of Signal to the Nucleus
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    Signaling by NOTCH4
    Constitutive Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant
    Signaling by NOTCH3


    2 Kegg Pathways  (Kegg details for JAG1):
        Notch signaling pathway
    TNF signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including JAG1 (see all 11): 
              Growth Factors in human mouse rat
              Angiogenesis in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Stem Cells in human mouse rat
              Notch Signaling Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for JAG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for JAG1 (P785041, 2, 3 ENSP000002549584) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NOTCH3Q9UM472, 3, ENSP000002633884MINT-8360953 I2D: score=3 STRING: ENSP00000263388
    CANXP278242, ENSP000002474614MINT-8361157 MINT-8361140 STRING: ENSP00000247461
    CALRP277972, ENSP000003208664MINT-8361157 MINT-8361140 STRING: ENSP00000320866
    MFNGO005873, ENSP000003494904I2D: score=2 STRING: ENSP00000349490
    NOTCH2Q047213, ENSP000002566464I2D: score=2 STRING: ENSP00000256646
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis NAS8955070
    GO:0001709cell fate determination NAS9207788
    GO:0002011morphogenesis of an epithelial sheet IEA--
    GO:0002456T cell mediated immunity IMP--
    GO:0003184pulmonary valve morphogenesis IMP--

    Find genes that share ontologies with JAG1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for JAG1

    1 Novoseek inferred chemical compound relationship for JAG1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nitric oxide 0 1 20147635 (1)



    Find genes that share compounds with JAG1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for JAG1 gene: 
    NM_000214.2  

    Unigene Cluster for JAG1:

    Jagged 1
    Hs.626544  [show with all ESTs]
    Unigene Representative Sequence: NM_000214
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254958(uc002wnw.2) ENST00000423891(uc010gcd.1)
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    Additional mRNA sequence: 

    AF003837.1 AF028593.1 AK302554.1 AK311289.1 AK312722.1 BC028007.1 BC098393.1 BC111753.1 
    BC126205.1 BC126207.1 U61276.1 U73936.1 U77720.1 Z50166.1 

    14 DOTS entries:

    DT.117454  DT.95275088  DT.100672695  DT.100769249  DT.406315  DT.95275069  DT.95120681  DT.445926 
    DT.92004065  DT.92040406  DT.120821523  DT.95280034  DT.99933882  DT.99985160 

    Selected AceView cDNA sequences (see all 261):

    BM679558 AI916552 BQ218805 AI087790 AI141418 BE855453 CA454464 BM695126 
    BG656552 CA445059 AI684091 AA857340 BG680619 AA908281 AI671755 BM782994 
    AF028593 AL041509 CA391974 C14654 AA243170 AU118981 BX480427 AI269167 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for JAG1 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a ·
    SP1:                                                                                                        -                       -                           
    SP2:                                                                    -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP3:                                                                                                                                                            
    SP4:                                                                                -                       -                                                   
    SP5:                                                                                                                                -                           

    ExUns: 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27a · 27b · 27c
    SP1:  -                                         -                                       
    SP2:  -     -     -                                                                     
    SP3:                                            -           -                           
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for JAG1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    JAG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAAACACC
    JAG1 Expression
    About this image


    JAG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     Kidney (Urinary System)    fully expand to see all 18 entries
             Loop of Henle Cells Loop of Henle
             Proximal Tubule
     
     Eye (Sensory Organs)    fully expand to see all 8 entries
             Lens Placode Cells Lens Placode
             Lens Vesicle
     
     Epithelial Cells
             Fetal Matrix Cells Hair Follicle
     
     Neural Tube (Nervous System)    fully expand to see all 8 entries
             Mesencephalic Ventricular Zone
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Epithalamus
    JAG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    JAG1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.626544

    UniProtKB/Swiss-Prot: JAG1_HUMAN, P78504
    Tissue specificity: Widely expressed in adult and fetal tissues. In cervix epithelium expressed in
    undifferentiated subcolumnar reserve cells and squamous metaplasia. Expression is up-regulated in cervical
    squamous cell carcinoma. Expressed in bone marrow cell line HS-27a which supports the long-term maintenance of
    immature progenitor cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including JAG1 (see all 11): 
              Growth Factors in human mouse rat
              Angiogenesis in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Stem Cells in human mouse rat
              Notch Signaling Targets in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for JAG1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jag11 , 5 jagged 11, 5 90.2(n)1
    96.55(a)1
      2 (67.73 cM)5
    164491  NM_013822.51  NP_038850.11 
     1370814565 
    chicken
    (Gallus gallus)
    Aves JAG11 jagged 1 80.54(n)
    87.84(a)
      396043  XM_415035.4  XP_415035.4 
    lizard
    (Anolis carolinensis)
    Reptilia JAG16
    jagged 1
    85(a)
    1 ↔ 1
    1(134088085-134145112)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.119562 Xenopus laevis mRNA for X-Serrate-1 protein, complete more 81.51(n)    AB027537.1 
    zebrafish
    (Danio rerio)
    Actinopterygii jag32 jagged3 78.51(n)   140423  AF229451.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dl3
    Ser1
    antennal morphogenesis Notch binding3
    Serrate1
    41(a)
    (best of 5)3
    46.42(n)1
    36.26(a)1
      432751  NM_079803.21  NP_524527.31 
    worm
    (Caenorhabditis elegans)
    Secernentea W02C12.13 EGF-like protein 36(a)
    (best of 6)
      IV(4008218-4014159)   --


    ENSEMBL Gene Tree for JAG1 (if available)
    TreeFam Gene Tree for JAG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for JAG1 gene
    DLK22  SNED12  NOTCH42  NOTCH12  DLL32  NOTCH32  JAG22  CRB22  
    DLL42  DLK12  NOTCH22  DNER2  CRB12  DLL12  
    12 SIMAP similar genes for JAG1 using alignment to 6 protein entries:     JAG1_HUMAN (see all proteins):
    F9    JAG2    DLK2    DLK1    DLL4    DLL1
    TENM2    WIF1    CNTNAP2    NOTCH3    CRB1    TENM4

    Find genes that share paralogs with JAG1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for JAG1 (see all 1048)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1458951961,2,,4
    C,FAlagille syndrome 1 (ALGS1)4 --10570185(+) AAGACC/TGACAC 2 Q R mis12Minor allele frequency- T:0.00NA EU 5755
    VAR_0262994
    Alagille syndrome 1 (ALGS1)4--see VAR_0262992 G S mis40--------
    VAR_0263174
    Alagille syndrome 1 (ALGS1)4--see VAR_0263172 W C mis40--------
    VAR_0263004
    Alagille syndrome 1 (ALGS1)4--see VAR_0263002 G V mis40--------
    VAR_0131914
    Alagille syndrome 1 (ALGS1)4--see VAR_0131912 P L mis40--------
    VAR_0131984
    Alagille syndrome 1 (ALGS1)4--see VAR_0131982 C G mis40--------
    VAR_0131924
    Alagille syndrome 1 (ALGS1)4--see VAR_0131922 R C mis40--------
    VAR_0132064
    Alagille syndrome 1 (ALGS1)4--see VAR_0132062 C R mis40--------
    VAR_0263154
    Alagille syndrome 1 (ALGS1)4--see VAR_0263152 C Y mis40--------
    VAR_0131934
    Alagille syndrome 1 (ALGS1)4--see VAR_0131932 R G mis40--------

    HapMap Linkage Disequilibrium report for JAG1 (10618332 - 10654694 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for JAG1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3291CNV Insertion18451855
    nsv522874CNV Loss19592680
    nsv833920CNV Gain17160897

    Human Gene Mutation Database (HGMD): JAG1
    Locus Specific Mutation Databases (LSDB): JAG1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing JAG1
    DNA2.0 Custom Variant and Variant Library Synthesis for JAG1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601920   
    OMIM disorders: 118450  187500  
    UniProtKB/Swiss-Prot: JAG1_HUMAN, P78504
  • Alagille syndrome 1 (ALGS1) [MIM:118450]: A form of Alagille syndrome, an autosomal dominant multisystem
    disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac,
    skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical
    involvement of the renal and vascular systems. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis,
    ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and
    hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor)
    is pumped into the body often causing cyanosis. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 16 diseases for JAG1:    
    About MalaCards
    pseudopapilledema    jag1-related alagille syndrome    deafness, congenital heart defects, and posterior embryotoxon    pulmonary valve stenosis
    familial deafness    alagille syndrome    cadasil    biliary atresia
    pulmonic stenosis    nodular regenerative hyperplasia    superficial basal cell carcinoma    tetralogy of fallot
    tetrology of fallot    ossifying fibroma    wolff-parkinson-white syndrome    mckusick-kaufman syndrome

    7 diseases from the University of Copenhagen DISEASES database for JAG1:
    Alagille syndrome     Tetralogy of Fallot     Pulmonary valve stenosis     Cancer
    Cholestasis     Cadasil     Pseudopapilledema

    Find genes that share disorders with JAG1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for JAG1 gene (see all 29)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alagille syndrome 98 147 11861489 (6), 11745040 (4), 12244552 (3), 17949281 (3) (see all 84)
    pfic3 76 1 17241866 (1)
    byler disease 69 1 17241866 (1)
    developmental disabilities 62.8 3 17366661 (1), 10075489 (1), 10220506 (1)
    pulmonary valve stenosis 61.6 6 20437614 (2), 10213047 (1), 12649809 (1), 12372254 (1)
    cholestasis intrahepatic 56.5 3 10220506 (1), 17241866 (1)
    cholestasis 52.7 4 20091053 (1), 15768832 (1), 10975791 (1), 15389319 (1)
    biliary atresia, extrahepatic 48.5 1 12297837 (1)
    cadasil 47.9 1 10075489 (1)
    heart defects congenital 44.9 4 10213047 (4)

    GeneTests: JAG1
    GeneReviews: JAG1
    Genetic Association Database (GAD): JAG1
    Human Genome Epidemiology (HuGE) Navigator: JAG1 (19 documents)

    Export disorders for JAG1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for JAG1 gene, integrated from 10 sources (see all 322):
    (articles sorted by number of sources associating them with JAG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. (PubMed id 9207788)1, 2, 3, 9 Li L.... Spinner N.B. (Nat. Genet. 1997)
    2. DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian Alagille syndrome patients. (PubMed id 12442286)1, 2, 9 Heritage M.L.... Anderson G.J. (Hum. Mutat. 2002)
    3. Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families. (PubMed id 9585603)1, 2, 9 Krantz I.D....Spinner N.B. (Am. J. Hum. Genet. 1998)
    4. Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. (PubMed id 12497640)1, 2, 9 Roepke A.... Hansmann I. (Hum. Mutat. 2003)
    5. Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. (PubMed id 12649809)1, 2, 9 Lu F.... Spinner N.B. (Am. J. Hum. Genet. 2003)
    6. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. (PubMed id 12427653)1, 4, 9 McElhinney D.B....Goldmuntz E. (Circulation 2002)
    7. Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. (PubMed id 11180599)1, 2, 9 Colliton R.P....Spinner N.B. (Hum. Mutat. 2001)
    8. Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. (PubMed id 11058898)1, 2, 9 Heritage M.L....Anderson G.J. (Hum. Mutat. 2000)
    9. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. (PubMed id 20437614)1, 4, 9 Bauer R.C....Spinner N.B. (Hum. Mutat. 2010)
    10. Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. (PubMed id 11157803)1, 2, 9 Morrissette J.J.D.... Spinner N.B. (Hum. Mol. Genet. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 182 HGNC: 6188 AceView: JAG1 Ensembl:ENSG00000101384 euGenes: HUgn182
    ECgene: JAG1 Kegg: 182 H-InvDB: JAG1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for JAG1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for JAG1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=JAG1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for JAG1 gene:
    Search GeneIP for patents involving JAG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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