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

TJP1 Gene

protein-coding   GIFtS: 65
GCID: GC15M029991

Tight Junction Protein 1

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Tight Junction Protein 11 2 3     Zonula Occludens Protein 12 3
Tight Junction Protein ZO-11 2     ZO-12
Zona Occludens 11 2     Zonula Occludens 1 Protein2
Zona Occludens Protein 12 3     ZO13

External Ids:    HGNC: 118271   Entrez Gene: 70822   Ensembl: ENSG000001040677   OMIM: 6010095   UniProtKB: Q071573   

Export aliases for TJP1 gene to outside databases

Previous GC identifers: GC15M025498 GC15M022747 GC15M027572 GC15M027708 GC15M027779 GC15M007657


(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 TJP1 Gene:
This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The
encoded protein may be involved in signal transduction at cell-cell junctions. Two transcript variants encoding
distinct isoforms have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for TJP1 Gene: 
TJP1 (tight junction protein 1) is a protein-coding gene. Diseases associated with TJP1 include pulmonary neuroendocrine tumor, and nephrosis, and among its related super-pathways are Gap junction and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include protein C-terminus binding and protein domain specific binding. An important paralog of this gene is DLG5.

UniProtKB/Swiss-Prot: ZO1_HUMAN, Q07157
Function: The N-terminal may be involved in transducing a signal required for tight junction assembly, while the
C-terminal may have specific properties of tight junctions. The alpha domain might be involved in stabilizing
junctions. Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of
migrating cells

Gene Wiki entry for TJP1 (Tight junction protein 1) 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_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TJP1 gene promoter:
         Elk-1   AML1a   Pbx1a   AP-4   HNF-3beta   E47   GATA-1   RORalpha1   Msx-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTJP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TJP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TJP1


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

Entrez Gene cytogenetic band: 15q13   Ensembl cytogenetic band:  15q13.1   HGNC cytogenetic band: 15q13

TJP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TJP1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M029991:  view genomic region     (about GC identifiers)

Start:
29,991,571 bp from pter      End:
30,261,068 bp from pter
Size:
269,498 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: ZO1_HUMAN, Q07157 (See protein sequence)
Recommended Name: Tight junction protein ZO-1  
Size: 1748 amino acids; 195459 Da
Subunit: Interacts with BVES (via the C-terminus cytoplasmic tail). Interacts with HSPA4 and KIRREL1 (By
similarity). Homodimer, and heterodimer with TJP2/ZO-2 and TJP3/ZO-3. Interacts with OCLN, CALM, claudins,
CGN/cingulin, CXADR, GJA12, GJD3 and UBN1. Interacts (via ZU5 domain) with CDC42BPB and MYZAP. Interacts (via PDZ
domain) with GJA1
Subcellular location: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, tight junction.
Cell junction. Cell junction, gap junction. Note=Moves from the cytoplasm to the cell membrane concurrently with
cell-cell contact. Detected at the leading edge of migrating and wounded cells
Sequence caution: Sequence=AAA02891.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
6/14 PDB 3D structures from and Proteopedia for TJP1 (see all 14):
2H2B (3D)        2H2C (3D)        2H3M (3D)        2JWE (3D)        2KXR (3D)        2KXS (3D)    
Secondary accessions: B4E3K1 Q2NKP3 Q4ZGJ6
Alternative splicing: 2 isoforms:  Q07157-1   Q07157-2   (Contains a phosphoserine at position 912)

Explore the universe of human proteins at neXtProt for TJP1: NX_Q07157

Explore proteomics data for TJP1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated. Dephosphorylated by PTPRJ
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q07157

  • TJP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TJP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_003248.3  NP_783297.2  

    ENSEMBL proteins: 
     ENSP00000281537   ENSP00000382890   ENSP00000348416   ENSP00000382887   ENSP00000441202  
     ENSP00000463194   ENSP00000452729   ENSP00000453334  
    Reactome Protein details: Q07157
    Human Recombinant Protein Products for TJP1: 
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    Novus Biologicals TJP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TJP1 

    Gene Ontology (GO): 5/18 cellular component terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0005911cell-cell junction ----

    TJP1 for ontologies           About GeneDecksing



    TJP1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for TJP1 
    Cloud-Clone Corp. CLIAs for TJP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (see all 9):
     IPR011511 SH3_2
     IPR008144 Guanylate_kin
     IPR008145 Guanylate_kin/L-typ_Ca_channel
     IPR027417 P-loop_NTPase
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry Q07157

    ProtoNet protein and cluster: Q07157

    4 Blocks protein domains:
    IPB000906 ZU5 domain
    IPB001478 PDZ/DHR/GLGF domain
    IPB005417 Zona occludens protein family signature
    IPB005418 Zona occludens protein ZO-1 signature


    UniProtKB/Swiss-Prot: ZO1_HUMAN, Q07157
    Domain: The second PDZ domain mediates interaction with GJA12 (By similarity)
    Similarity: Belongs to the MAGUK family
    Similarity: Contains 1 guanylate kinase-like domain
    Similarity: Contains 3 PDZ (DHR) domains
    Similarity: Contains 1 SH3 domain
    Similarity: Contains 1 ZU5 domain


    TJP1 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: ZO1_HUMAN, Q07157
    Function: The N-terminal may be involved in transducing a signal required for tight junction assembly, while the
    C-terminal may have specific properties of tight junctions. The alpha domain might be involved in stabilizing
    junctions. Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of
    migrating cells

         Genatlas biochemistry entry for TJP1:
    tight junction (zonula occludens) protein ZO-1,also expressed in adherens junctions,200kDa,localized in the
    glomerulus predominantly to points where the slit diaphragm is inserted into the lateral cell membrane of the
    foot process with homology to yeast guanylate kinase and Drosophila lethal discs large tumor suppressor protein

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11042084
    GO:0005516calmodulin binding IEA--
    GO:0008022protein C-terminus binding IEA--
    GO:0019904protein domain specific binding IEA--
         
    TJP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TJP1:
     Increased gamma-H2AX phosphory  Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TJP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TJP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TJP1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TJP1 

    miRNA
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    miRTarBase miRNAs that target TJP1:
    hsa-mir-212 (MIRT004341)

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    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate TJP1 (see all 41):
    hsa-miR-411* hsa-miR-607 hsa-miR-379* hsa-miR-429 hsa-miR-105 hsa-miR-548m hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidTJP1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): TJP1 (NM_003257)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TJP1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TJP1


    (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 TJP1 About   (see all 22)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    Gap junction0.31
    2Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    Germ Cell-Sertoli Cell Junction Dynamics0.38
    3Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.73
    Apoptotic execution phase0.73
    4Regulation of gap junction activity
    Regulation of gap junction activity1.00
    c-src mediated regulation of Cx43 function and closure of gap junctions1.00
    5Insulin receptor recycling
    Vibrio cholerae infection0.41
    Epithelial cell signaling in Helicobacter pylori infection0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for TJP1
        Cell adhesion Gap junctions
    Cell adhesion Tight junctions
    Cell adhesion Endothelial cell contacts by junctional mechanisms

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TJP1
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    Germ Cell-Sertoli Cell Junction Dynamics
    Signaling in Gap Junctions
    Epithelial Adherens Junctions

    2 Cell Signaling Technology (CST) Pathways for TJP1
        Cytoskeletal Signaling
    Adhesion

    3 GeneGo (Thomson Reuters) Pathways for TJP1
        Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Tight junctions
    Cell adhesion Gap junctions

    2 BioSystems Pathways for TJP1
        E-cadherin signaling in the nascent adherens junction
    Nephrin/Neph1 signaling in the kidney podocyte

    5/10        Reactome Pathways for TJP1 (see all 10)
        Signaling by Hippo
    Apoptotic execution phase
    Membrane Trafficking
    c-src mediated regulation of Cx43 function and closure of gap junctions
    Regulation of gap junction activity


    5/6         Kegg Pathways  (Kegg details for TJP1) (see all 6):
        Adherens junction
    Tight junction
    Gap junction
    Vibrio cholerae infection
    Epithelial cell signaling in Helicobacter pylori infection


    TJP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TJP1

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

    5/140 Interacting proteins for TJP1 (Q071571, 2, 3 ENSP000002815374) via UniProtKB, MINT, STRING, and/or I2D (see all 140)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN4O437071, 2, 3, ENSP000002526994EBI-79553,EBI-351526 MINT-3088497 MINT-3088449 MINT-3088309 MINT-2984673 I2D: score=7 STRING: ENSP00000252699
    GJA1P173022, 3, ENSP000002825614MINT-3088474 MINT-1791009 MINT-1791038 I2D: score=5 STRING: ENSP00000282561
    MAGI3Q5TCQ92, 3, ENSP000003046044MINT-6800622 MINT-1796870 I2D: score=1 STRING: ENSP00000304604
    ACTBP607092, 3, ENSP000003499604MINT-2984695 I2D: score=3 STRING: ENSP00000349960
    TUBA1CQ9BQE32, 3, ENSP000003010724MINT-2984901 I2D: score=3 STRING: ENSP00000301072
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001825blastocyst formation IEA--
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0007043cell-cell junction assembly TAS8486731
    GO:0032496response to lipopolysaccharide IEA--

    TJP1 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

    TJP1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for TJP1 (ZO1)

    10/54 Novoseek inferred chemical compound relationships for TJP1 gene (see all 54)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phalloidin 61.6 2 18587491 (1), 10075198 (1)
    dextran 58.1 1 17451824 (1)
    connexin 45 55.7 1 16463142 (1)
    inulin 51.2 9 12547828 (3), 17991733 (2), 14500730 (1), 9628318 (1) (see all 5)
    mannitol 48.1 4 12200963 (1), 10564065 (1), 9628318 (1), 10053166 (1)
    dnbs 47.1 3 12839336 (1), 12393933 (1)
    guanylate 44.5 8 8855257 (2), 9792688 (1), 9837755 (1), 17603117 (1) (see all 6)
    fluorescein 40.3 1 16003911 (1)
    cytochalasin d 40.1 3 16239402 (1), 7542259 (1), 9249502 (1)
    puromycin aminonucleoside 38.3 7 15744817 (6)

    Search CenterWatch for drugs/clinical trials and news about TJP1 / ZO1

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TJP1 gene (2 alternative transcripts): 
    NM_003257.3  NM_175610.2  

    Unigene Cluster for TJP1:

    Tight junction protein 1
    Hs.743990  [show with all ESTs]
    Unigene Representative Sequence: NM_003257
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000346128(uc001zcr.3 uc001zcs.3) ENST00000400011(uc001zcq.3)
    ENST00000356107(uc010azl.3) ENST00000400007 ENST00000545208 ENST00000579042
    ENST00000561307 ENST00000462916 ENST00000485381 ENST00000495972 ENST00000558447
    ENST00000473741
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB370197.1 AF035298.1 AK302971.1 AK304758.1 AK308113.1 BC036090.1 BC111712.1 BX640879.1 
    CR749235.1 

    16 DOTS entries:

    DT.97793562  DT.100023505  DT.448427  DT.100733814  DT.75171262  DT.92451142  DT.95223187  DT.100824818 
    DT.70103941  DT.102832609  DT.95223167  DT.100824820  DT.121064408  DT.40195392  DT.92451132  DT.97803961 

    24/255 AceView cDNA sequences (see all 255):

    AA629410 BU619477 BM352913 BM676438 BE762725 AV654911 CR749235 AA688237 
    BM128872 AL048948 F03219 BQ029566 BF116049 BC036090 F10936 BU176065 
    CA392358 CK819481 BM978291 BU680997 BG112787 BE762729 NM_003257 CB126815 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TJP1 (see all 11)    About this scheme

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

    ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for TJP1

    (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

    TJP1 expression in normal human tissues (normalized intensities)      TJP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAGGTCATT
    TJP1 Expression
    About this image


    TJP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/41 selected tissues (see all 41) fully expand
     
     Inner Cell Mass (Early Embryo)    fully expand to see all 6 entries
             Inner Cell Mass Cells Inner Cell Mass
     
     Eye (Sensory Organs)    fully expand to see all 5 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Human corneal endothelial cells
             Retinal pigmented epithelium cells ( Direct differentiation of human embryonic stem...
     
     Zygote (Early Embryonic Tissues)    fully expand to see all 5 entries
             4-Cell Embryo Zygote
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 5 entries
             4-Cell Embryo Zygote
     
     Endothelium (Cardiovascular System)    fully expand to see all 4 entries
             Human corneal endothelial cells
             Endothelial progenitor cells ( Derivation and purification of endothelial precursor...
             colon ; endothelial cells   

    See TJP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TJP1

    SOURCE GeneReport for Unigene cluster: Hs.743990

    UniProtKB/Swiss-Prot: ZO1_HUMAN, Q07157
    Tissue specificity: The alpha-containing isoform is found in most epithelial cell junctions. The short isoform is
    found both in endothelial cells and the highly specialized epithelial junctions of renal glomeruli and Sertoli
    cells of the seminiferous tubules

        SABiosciences Expression via Pathway-Focused PCR Arrays including TJP1: 
              Adherens Junctions in human mouse rat
              Tight Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions 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 TJP1 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tjp11 , 5 tight junction protein 11, 5 87.93(n)1
    91.06(a)1
      7 (35.02 cM)5
    218721  NM_009386.21  NP_033412.21 
     652961655 
    chicken
    (Gallus gallus)
    Aves TJP11 tight junction protein 1 (zona occludens 1) 77.47(n)
    81.89(a)
      415388  XM_413773.3  XP_413773.3 
    lizard
    (Anolis carolinensis)
    Reptilia TJP16
    tight junction protein 1
    80(a)
    1 ↔ 1
    GL343644.1(124161-196498)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.141462 Xenopus laevis transcribed sequence with moderate similarity more 77.62(n)    BQ737064.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570622632   -- 75.05(n)    57062263 
    fruit fly
    (Drosophila melanogaster)
    Insecta pyd3 dorsal closure guanylate cyclase 35(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea zoo-11 Protein ZOO-1 45.3(n)
    35.31(a)
      173316  NM_001026514.2  NP_001021685.1 


    ENSEMBL Gene Tree for TJP1 (if available)
    TreeFam Gene Tree for TJP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TJP1 gene
    DLG52  TJP32  TJP22  
    9 SIMAP similar genes for TJP1 using alignment to 10 protein entries:     ZO1_HUMAN (see all proteins):
    DKFZp686A1195    ASB9    NSD1    DKFZp686M05161    LRTOMT    ATL2
    TJP2    DLG4    TJP3

    TJP1 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

    10/2503 SNPs in TJP1 are shown (see all 2503)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0251544
    ----see VAR_0251542 I V mis40--------
    rs1829163941,2
    --29991965(+) CCAAAG/TGTGGG 2 -- ds50010--------
    rs1887712241,2
    --29992005(+) CTGGGA/GAATAA 2 -- ds50010--------
    rs1401928241,2
    C--29992063(+) CCCAT-/GCAGGGGT
    GTTTCTCCAC
    GCAGG
    2 -- ds50010--------
    rs1916746091,2
    --29992081(+) TCCACA/GCAGGG 2 -- ds50010--------
    rs1170158241,2
    C,F--29992219(+) AGGGGA/GGAAAT 2 -- ds50011Minor allele frequency- G:0.02EA 120
    rs454525011,2
    C,F--29992246(-) ACCTCG/ATCGTC 2 -- ds50016Minor allele frequency- A:0.05NS NA 260
    rs1475283871,2
    --29992386(+) AGATTC/TAGAAA 2 -- ut310--------
    rs1398731441,2
    --29992431(+) TCACAC/TCTAAT 2 -- ut310--------
    rs1829156521,2
    --29992445(+) TAACAG/TAATGT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for TJP1 (29991571 - 30241571 bp, first 250kb of TJP1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for TJP1 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2675583CNV Deletion23128226
    esv2422463CNV Duplication17116639
    esv2751526CNV Loss17911159
    nsv522597CNV Loss19592680
    nsv819003CNV Loss19587683
    nsv903747CNV Gain21882294
    nsv832945CNV Gain17160897
    nsv527255CNV Gain19592680
    dgv2292n71CNV Gain21882294
    nsv827275CNV Gain20364138

    SABiosciences Cancer Mutation PCR Assays
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    (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: 601009    OMIM disorders: --

    20/71 diseases for TJP1 (see all 71):    About MalaCards
    pulmonary neuroendocrine tumor    nephrosis    brain edema    urticaria
    celiac disease    cystitis    neurofibroma    biliary tract cancer
    sclerosing cholangitis    primary sclerosing cholangitis    lung squamous cell carcinoma    neuroendocrine tumor
    malaria    cholangitis    brain ischemia    cerebral malaria
    myocarditis    hiv type 1    gastric adenocarcinoma    synovial sarcoma

    3 diseases from the University of Copenhagen DISEASES database for TJP1:
    Brain edema     Diabetic retinopathy     Inflammatory bowel disease

    TJP1 for disorders           About GeneDecksing

    10/35 Novoseek inferred disease relationships for TJP1 gene (see all 35)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nphs1 50.2 2 11106563 (2)
    tumors 23.2 39 16140936 (3), 18386163 (3), 8395056 (2), 15475928 (2) (see all 24)
    celiac disease 22.2 2 16627260 (2)
    inflammatory bowel diseases 21.1 1 19885626 (1)
    colitis 19.9 1 9952110 (1)
    encephalitis 12.8 2 10595922 (1), 11054186 (1)
    colorectal carcinoma 11.6 1 12615962 (1)
    necrosis 8.93 3 9249502 (1), 20020957 (1)
    proteinuria 8.92 5 15744817 (2)
    liver metastases 7.52 9 12708492 (2), 18386163 (2), 19117052 (1)


    Export disorders for TJP1 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 TJP1 gene, integrated from 9 sources (see all 581):
    (articles sorted by number of sources associating them with TJP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evidence for a functional interaction between cingulin and ZO-1 in cultured cells. (PubMed id 12023291)1, 2, 9 D'Atri F.... Citi S. (2002)
    2. The tight junction protein ZO-1 is homologous to the Drosophila discs-large tumor suppressor protein of septate junctions. (PubMed id 8395056)1, 2, 9 Willott E....Anderson J.M. (1993)
    3. Density-enhanced Phosphatase 1 Regulates Phosphorylation of Tight Junction Proteins and Enhances Barrier Function of Epithelial Cells. (PubMed id 19332538)1, 2, 9 Sallee J.L. and Burridge K. (2009)
    4. Cdc42-dependent formation of the ZO-1/MRCKI^ complex a t the leading edge controls cell migration. (PubMed id 21240187)1, 2 Huo L....Zhang M. (2011)
    5. Solution structure of the second PDZ domain of Zonula Occludens 1. (PubMed id 21387411)1, 2 Ji P....Shi Y. (2011)
    6. Insights into regulated ligand binding sites from the structure of ZO-1 Src homology 3-guanylate kinase module. (PubMed id 20200156)1, 2 Lye M.F....Lavie A. (2010)
    7. Characterization of the ubinuclein protein as a new member of the nuclear and adhesion complex components (NaCos). (PubMed id 18823282)1, 2 Aho S.... Gruffat H. (2009)
    8. Domain-swapped dimerization of ZO-1 PDZ2 generates specific and regulatory connexin43-binding sites. (PubMed id 18636092)1, 2 Chen J....Zhang M. (2008)
    9. Domain swapping within PDZ2 is responsible for dimerization of ZO proteins. (PubMed id 17928286)1, 2 Fanning A.S.... Lavie A. (2007)
    10. Comparative structural analysis of the erbin PDZ domain and the first PDZ domain of ZO-1. Insights into determinants of PDZ domain specificity. (PubMed id 16737969)1, 2 Appleton B.A.... Wiesmann C. (2006)

    (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: 7082 HGNC: 11827 AceView: TJP1 Ensembl:ENSG00000104067 euGenes: HUgn7082
    ECgene: TJP1 Kegg: 7082 H-InvDB: TJP1

    (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 TJP1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tjp1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TJP1 gene:
    Search GeneIP for patents involving TJP1

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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