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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

JAG1 Gene

protein-coding   GIFtS: 75
GCID: GC20M010618

Jagged 1

(Previous name: Alagille syndrome)
(Previous symbols: AGS, JAGL1)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 alagille syndrome, and biliary atresia, and among its related super-pathways are Notch signaling pathway and Constitutive Signaling by NOTCH1 PEST Domain Mutants. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011387.8  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for JAG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Membrane; Single-pass type I membrane protein
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;
2 PDB 3D structures from and Proteopedia for JAG1:
2KB9 (3D)        2VJ2 (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P78504

  • JAG1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    JAG1 Protein Expression
    REFSEQ proteins: NP_000205.1  
    ENSEMBL proteins: 
     ENSP00000254958   ENSP00000389519  
    Reactome Protein details: P78504
    Human Recombinant Protein Products for JAG1: 
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    OriGene Purified Protein for JAG1
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    Novus Biologicals JAG1 Lysates
    Sino Biological Recombinant Protein for JAG1
    Sino Biological Cell Lysate for JAG1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for JAG1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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

    JAG1 for ontologies           About GeneDecksing



    JAG1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules

    5/9 InterPro protein domains (see all 9):
     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


    JAG1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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: Pericytes in Sinusoids It affects the following cells: Distal Renal Vesicle Cells in Renal Vesicle, Hepatoblasts in Liver Bud (see all 4).

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005112Notch binding NAS9268641
    GO:0005198structural molecule activity NAS10679295
    GO:0005509calcium ion binding NAS--
    GO:0005515protein binding ----
    GO:0008083growth factor activity NAS11067884
         
    JAG1 for ontologies           About GeneDecksing


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

         15/21 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  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  integument  liver/biliary system  mortality/aging  muscle 

    JAG1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for JAG1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for JAG1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for JAG1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for JAG1 

    miRNA
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    miRTarBase miRNAs that target JAG1:
    hsa-mir-21 (MIRT000176), hsa-mir-34a (MIRT000074), hsa-mir-200c (MIRT005457)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JAG1
    8/62 QIAGEN miScript miRNA 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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    Gene Editing
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    Sirion Biotech Customized lentivirus for stable overexpression of JAG1 
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    Cell Line
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    LifeMap BioReagents: cell line associated with JAG1: PureStem ES-209, Meso-prx/latp Progenitor
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAG1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for JAG1 About   (see all 14)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    2Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.89
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.89
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH10.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    3Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor
    Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor0.61
    Constitutive Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.50
    Constitutive Signaling by NOTCH1 HD Domain Mutants0.61
    4NOTCH2 intracellular domain regulates transcription
    Signaling by NOTCH20.66
    Activated NOTCH1 Transmits Signal to the Nucleus0.59
    NOTCH2 Activation and Transmission of Signal to the Nucleus0.66
    5Development NOTCH1-mediated pathway for NF-KB activity modulation
    Development NOTCH1-mediated pathway for NF-KB activity modulation0.88
    Development Notch Signaling Pathway0.54

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for JAG1
        Development Notch Signaling Pathway
    Development NOTCH1-mediated pathway for NF-KB activity modulation

    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

    5/20        Reactome Pathways for JAG1 (see all 20)
        Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    FBXW7 Mutants and NOTCH1 in Cancer
    Signaling by NOTCH1 HD Domain Mutants in Cancer
    Signaling by NOTCH1 in Cancer
    Disease


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


    JAG1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for JAG1

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

    5/32 Interacting proteins for JAG1 (P785042, 3 ENSP000002549584) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    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): 5/36 biological process terms (GO ID links to tree view) (see all 36):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis NAS8955070
    GO:0001709cell fate determination NAS9207788
    GO:0002011morphogenesis of an epithelial sheet IEA--
    GO:0003184pulmonary valve morphogenesis IMP--
    GO:0003215cardiac right ventricle morphogenesis ISS--

    JAG1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    JAG1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about JAG1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JAG1

    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 

    24/261 AceView cDNA sequences (see all 261):

    C14654 AI671755 AL041509 BM679558 CA391974 AI141418 AU118981 AF028593 
    AI684091 BM695126 AU133028 CA445059 CB142914 BG680619 AI087790 AA908281 
    AA857340 AI269167 AA243170 BM708042 AI916552 BX480427 BP345931 BE855453 

    GeneLoc Exon Structure

    5/9 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    JAG1 expression in normal human tissues (normalized intensities)      JAG1 embryonic expression: see
    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 
     5/30 selected tissues (see all 30) fully expand
     
     Brain (Nervous System)    fully expand to see all 25 entries
             Epithalamus
             Septum   
     
     Kidney (Urinary System)    fully expand to see all 23 entries
             S-shaped Body Cells S-shaped Body
             Proximal Tubule
             visceral organ/mesonephros/tubule   
     
     Neural Tube (Nervous System)    fully expand to see all 10 entries
             Telencephalon
             spinal cord/lateral wall/mantle layer   
     
     Heart (Cardiovascular System)    fully expand to see all 8 entries
             Dorsal Aorta
             heart/atrium/left atrium   
     
     Endothelium (Cardiovascular System)    fully expand to see all 7 entries
             mouse/organ system/cardiovascular system/arterial system   

    See JAG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for JAG1

    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

        SABiosciences Expression via Pathway-Focused 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

    This gene was present in the common ancestor of animals.

    Orthologs for JAG1 gene from 6/14 species (see all 14)    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 80.45(n)
    87.62(a)
      396043  XM_415035.3  XP_415035.3 
    lizard
    (Anolis carolinensis)
    Reptilia JAG16
    --
    Delta-like protein
    85(a)
    43(a)
    1 ↔ 1
    possible ortholog
    1(134088085-134145112)
    GL343568.1(290479-325945)
    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 antennal morphogenesis Notch binding 41(a)
    (best of 5)
        --


    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)
    About This Section
    Paralogs for JAG1 gene
    DLK22  SLIT22  SNED12  SLIT12  DLL32  JAG22  DLL42  DLK12  
    DNER2  SLIT32  SVEP12  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    CRB1    TENM4    NOTCH3

    JAG1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1048 SNPs in JAG1 are shown (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
    ----------
    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--------
    VAR_0132014
    Alagille syndrome 1 (ALGS1)4--see VAR_0132012 C F 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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/76 diseases for JAG1 (see all 76):    About MalaCards
    alagille syndrome    biliary atresia    biliary atresia extrahepatic    jag1-related alagille syndrome
    pseudopapilledema    pulmonary valve stenosis    superficial basal cell carcinoma    cadasil
    familial deafness    isolated nonsyndromic congenital heart disease/defects    nodular regenerative hyperplasia    pulmonic stenosis
    congenital aortic valve stenosis    aortic valve stenosis    congenital heart defect    tetralogy of fallot
    hajdu-cheney syndrome    wolff-parkinson-white syndrome    mckusick-kaufman syndrome    developmental disabilities

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

    JAG1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/29 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)
    About This Section

    PubMed articles for JAG1 gene, integrated from 9 sources (see all 319):
    (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. (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. (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. (1998)
    4. Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. (PubMed id 12497640)1, 2, 9 Roepke A.... Hansmann I. (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. (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. (2002)
    7. Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. (PubMed id 11180599)1, 2, 9 Colliton R.P....Spinner N.B. (2001)
    8. Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. (PubMed id 11058898)1, 2, 9 Heritage M.L....Anderson G.J. (2000)
    9. Jagged1 (JAG1) mutations in patients with tetralogy o f Fallot or pulmonic stenosis. (PubMed id 20437614)1, 4, 9 Bauer R.C....Spinner N.B. (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. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 182 HGNC: 6188 AceView: JAG1 Ensembl:ENSG00000101384 euGenes: HUgn182
    ECgene: JAG1 Kegg: 182 H-InvDB: JAG1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/JAG1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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    About This Section

     
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