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    TJP1 tight junction protein 1 [ Homo sapiens (human) ]

    Gene ID: 7082, updated on 9-Dec-2024

    Summary

    Official Symbol
    TJP1provided by HGNC
    Official Full Name
    tight junction protein 1provided by HGNC
    Primary source
    HGNC:HGNC:11827
    See related
    Ensembl:ENSG00000104067 MIM:601009; AllianceGenome:HGNC:11827
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZO-1
    Summary
    This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family of proteins, and acts as a tight junction adaptor protein that also regulates adherens junctions. Tight junctions regulate the movement of ions and macromolecules between endothelial and epithelial cells. The multidomain structure of this scaffold protein, including a postsynaptic density 95/disc-large/zona occludens (PDZ) domain, a Src homology (SH3) domain, a guanylate kinase (GuK) domain and unique (U) motifs all help to co-ordinate binding of transmembrane proteins, cytosolic proteins, and F-actin, which are required for tight junction function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in testis (RPKM 23.9), placenta (RPKM 23.2) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TJP1 in Genome Data Viewer
    Location:
    15q13.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (29699367..29969049, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (27490136..27760675, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (29991571..30261252, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene endosomal transmembrane epsin interactor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29967552-29968082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29968083-29968613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29970293-29970793 Neighboring gene uncharacterized LOC105370743 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:30010173-30011372 Neighboring gene lung cancer immune cell infiltration associated lncRNA Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:30052673-30053872 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 5 Neighboring gene uncharacterized LOC124903451 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:30164609-30165110 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:30165111-30165610 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:30171032-30171214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:30215957-30216506 Neighboring gene Sharpr-MPRA regulatory region 13292 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:30226175-30227374 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:30318078-30318268 Neighboring gene non-SMC condensin I complex subunit G pseudogene 2 Neighboring gene synaptogyrin 2 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The exposure to HIV-1 or HIV-1 gp120 results in a significant downregulation of tight junction proteins ZO-1, Occludin, Claudin-1, Claudin-2, Claudin-3, Claudin-4, and Claudin-5 in human retinal pigment epithelial cells PubMed
    env HIV-1 JRFL and HXB2 Env (gp120) downregulates TJP1(ZO-1) upon interaction with DC-SIGN in ARPE-19 cells and is dependent upon MMP activation PubMed
    env HIV-1 gp120-mediated tight junction disruption such as a diffuse cytoplasmic ZO-1 pattern facilitates paracellular penetration of mucosal epithelium by human papillomavirus or herpes simplex virus PubMed
    env Treatment of cultured human brain endothelial cells with HIV-1 gp120 results in increased permeability of the endothelial monolayer and causes disruption and downregulation of the tight junction proteins ZO-1, ZO-2, and occludin in these cells PubMed
    env The expression of tight junction (TJ) proteins ZO-1, JAM-2, Occludin, Claudin-3 and Claudin-5 is modulated by HIV-1 gp120, and the modulated TJ expression involves Rho-A activation PubMed
    env Cannabinoid inhibits HIV-1 gp120-induced tight junction protein down-regulation of ZO-1, claudin-5, and JAM-1 in human brain micro vascular endothelial cells (HBMEC) PubMed
    Nef nef Exogenous Nef taken up by Caco-2 cells increases intestinal epithelial permeability, inhibits the IFN-gamma-induced reduction of transepitelial resistance and decreases the tight junction proteins occludin and ZO1 expression PubMed
    Tat tat Downregulation of ZO-1 by treatment with HIV-1 Tat and cocaine is inhibited by VEGFR-2 or sigma receptor antagonists, suggesting that VEGFR-2 and sigma receptor are involved in the downregulation of ZO-1 by Tat and cocaine in pulmonary cells PubMed
    tat Blocking HIV-1 Tat and cocaine-mediated Erk activation reverses ZO-1 downregulation in human pulmonary artery endothelial cells PubMed
    tat HIV-1 Tat-mediated tight junction disruption such as a diffuse cytoplasmic ZO-1 pattern facilitates paracellular penetration of mucosal epithelium by human herpes simplex virus PubMed
    tat The function and activity of CREB is required for both Tat-induced Rho signaling and nuclear targeting of ZO-1 PubMed
    tat Treatment of a brain endothelial cell line with HIV-1 Tat results in a decrease in total levels of ZO-1 but significantly upregulate ZO-1 protein expression in the nuclei PubMed
    tat Exposure to Tat diminishes the expression of several tight junction proteins, including occludin, zonula occludens (ZO)-1, and ZO-2 in the caveolar fraction of human brain micro vascular endothelial cells PubMed
    tat HIV-1 Tat-mediated tight junction disruption such as a diffuse cytoplasmic ZO-1 pattern facilitates paracellular penetration of mucosal epithelium by human papillomavirus PubMed
    tat HIV-1 Tat B disrupts blood-brain barrier (BBB) integrity to a greater extent compared to HIV-1 Tat C. This BBB dysfunction is associated with modulated expression of tight junction proteins zona occuldens (ZO-1) and junctional adhesion molecule (JAM)-2 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC133289, DKFZp686M05161

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA PubMed 
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cell adhesion molecule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in actomyosin structure organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in adherens junction maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ameloblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell junction assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell-cell junction organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of endothelial intestinal barrier IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment of endothelial intestinal barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in maintenance of blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of stress fiber assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of blood-brain barrier permeability IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of blood-brain barrier permeability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell-cell adhesion mediated by cadherin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to adherens junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to bicellular tight junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to cell-cell junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of bicellular tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in adherens junction TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in apical junction complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in bicellular tight junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell junction TAS
    Traceable Author Statement
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in gap junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in podosome IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in tight junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    tight junction protein ZO-1
    Names
    zona occludens 1
    zonula occludens 1 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001301025.3NP_001287954.2  tight junction protein ZO-1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, and it uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is longer than isoform a. The exon combination of this variant is inferred based on partial transcript alignments.
      Source sequence(s)
      AC022613, AC087455, AF035298
      Consensus CDS
      CCDS91971.1
      UniProtKB/TrEMBL
      A9CQZ8, G3V1L9
      Related
      ENSP00000348416.7, ENST00000356107.11
      Conserved Domains (8) summary
      cd12026
      Location:610674
      SH3_ZO-1; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 1
      smart00072
      Location:708887
      GuKc; Guanylate kinase homologues
      smart00228
      Location:276356
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:115200
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00595
      Location:518594
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00791
      Location:17281827
      ZU5; ZU5 domain
      cl27975
      Location:9471342
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
      cl28087
      Location:12281688
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    2. NM_001301026.2NP_001287955.1  tight junction protein ZO-1 isoform d

      See identical proteins and their annotated locations for NP_001287955.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, and it lacks an alternate in-frame exon in the central coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AB370197, AC022613, AF035298, BX640879
      Consensus CDS
      CCDS73702.1
      UniProtKB/TrEMBL
      G5E9E7, Q6MZU1
      Related
      ENSP00000382890.2, ENST00000400011.6
      Conserved Domains (7) summary
      cd12026
      Location:521585
      SH3_ZO-1; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 1
      smart00072
      Location:619798
      GuKc; Guanylate kinase homologues
      smart00228
      Location:187267
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:26111
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00595
      Location:429505
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00791
      Location:15581656
      ZU5; ZU5 domain
      pfam07223
      Location:8691174
      DUF1421; Protein of unknown function (DUF1421)
    3. NM_001330239.4NP_001317168.1  tight junction protein ZO-1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (e) is longer than isoform a.
      Source sequence(s)
      AC022613
      Consensus CDS
      CCDS81858.1
      UniProtKB/TrEMBL
      A0A087X0K9, A9CQZ8
      Related
      ENSP00000483470.2, ENST00000614355.5
      Conserved Domains (7) summary
      cd12026
      Location:517581
      SH3_ZO-1; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 1
      smart00072
      Location:615794
      GuKc; Guanylate kinase homologues
      smart00228
      Location:183263
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:22107
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00595
      Location:425501
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00791
      Location:16341732
      ZU5; ZU5 domain
      pfam07223
      Location:9221250
      DUF1421; Protein of unknown function (DUF1421)
    4. NM_001355012.2NP_001341941.1  tight junction protein ZO-1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AA101028, AC022613, AC087455, AF035298, AL707462, BC111712, BE082525, BE819398, BI914113, BM459712, BQ434619, BQ575449, BX504167, BX640879, CD653673, CN372462, CN372473, CV571135, DB089107, HY197781
      UniProtKB/TrEMBL
      A9CQZ8
      Conserved Domains (8) summary
      smart00218
      Location:17251831
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd12026
      Location:610674
      SH3_ZO-1; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 1
      smart00072
      Location:708887
      GuKc; Guanylate kinase homologues
      smart00228
      Location:276356
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:115200
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00595
      Location:518594
      PDZ; PDZ domain (Also known as DHR or GLGF)
      cl27975
      Location:9471342
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
      cl28087
      Location:12281688
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    5. NM_001355013.1NP_001341942.1  tight junction protein ZO-1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC022613, AF035298, BC111712, BU618228, BX640879
      UniProtKB/TrEMBL
      A9CQZ8
      Conserved Domains (8) summary
      cd12026
      Location:521585
      SH3_ZO-1; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 1
      smart00072
      Location:619798
      GuKc; Guanylate kinase homologues
      smart00228
      Location:187267
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:26111
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00595
      Location:429505
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00791
      Location:16391728
      ZU5; ZU5 domain
      cl27975
      Location:8581253
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
      cl28087
      Location:11391599
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    6. NM_001355014.2NP_001341943.1  tight junction protein ZO-1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC022613, AF035298, BC111712, BU618228, BX640879, L14837
      UniProtKB/TrEMBL
      A9CQZ8
      Conserved Domains (8) summary
      cd12026
      Location:517581
      SH3_ZO-1; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 1
      smart00072
      Location:615794
      GuKc; Guanylate kinase homologues
      smart00228
      Location:183263
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:22107
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00595
      Location:425501
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00791
      Location:16351724
      ZU5; ZU5 domain
      cl27975
      Location:8541249
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
      cl28087
      Location:11351595
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    7. NM_001355015.2NP_001341944.1  tight junction protein ZO-1 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC022613, AF035298, AK302971, BC111712, BM722482, BX640879, L14837
      Consensus CDS
      CCDS91970.1
      UniProtKB/TrEMBL
      A0A7I2V5U5, Q6MZU1
      Related
      ENSP00000504775.1, ENST00000677774.1
      Conserved Domains (7) summary
      cd12026
      Location:517581
      SH3_ZO-1; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 1
      smart00072
      Location:615794
      GuKc; Guanylate kinase homologues
      smart00228
      Location:183263
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:22107
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00595
      Location:425501
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam00791
      Location:15551654
      ZU5; ZU5 domain
      cl28087
      Location:10551515
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
    8. NM_003257.5NP_003248.3  tight junction protein ZO-1 isoform a

      See identical proteins and their annotated locations for NP_003248.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as ZO-1alpha+) encodes isoform a, which is found in most epithelial cell junctions.
      Source sequence(s)
      AC022613, AF035298, BC111712, BX640879, L14837
      Consensus CDS
      CCDS42007.1
      UniProtKB/Swiss-Prot
      B4E3K1, Q07157, Q2NKP3, Q4ZGJ6
      UniProtKB/TrEMBL
      A9CQZ8
      Related
      ENSP00000281537.7, ENST00000346128.10
      Conserved Domains (7) summary
      smart00218
      Location:16321738
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd12026
      Location:517581
      SH3_ZO-1; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 1
      smart00072
      Location:615794
      GuKc; Guanylate kinase homologues
      smart00228
      Location:183263
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:22107
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00595
      Location:425501
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam07223
      Location:9221250
      DUF1421; Protein of unknown function (DUF1421)
    9. NM_175610.4NP_783297.2  tight junction protein ZO-1 isoform b

      See identical proteins and their annotated locations for NP_783297.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as ZO-1alpha-) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. Isoform b is found in both endothelial cells and the highly specialized epithelial junctions of renal glomeruli and sertoli cells of the seminiferous tubules. The exon combination of this variant is inferred based on partial transcript alignments and data in PMID:1590354.
      Source sequence(s)
      AC022613, AF035298, AK302971, BC111712, BX640879, L14837
      Consensus CDS
      CCDS45199.1
      UniProtKB/TrEMBL
      Q6MZU1
      Related
      ENSP00000441202.2, ENST00000545208.6
      Conserved Domains (7) summary
      smart00218
      Location:15521658
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd12026
      Location:517581
      SH3_ZO-1; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 1
      smart00072
      Location:615794
      GuKc; Guanylate kinase homologues
      smart00228
      Location:183263
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:22107
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam00595
      Location:425501
      PDZ; PDZ domain (Also known as DHR or GLGF)
      pfam07223
      Location:8651170
      DUF1421; Protein of unknown function (DUF1421)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      29699367..29969049 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254620.4XP_005254677.2  tight junction protein ZO-1 isoform X14

      UniProtKB/TrEMBL
      Q6MZU1
      Conserved Domains (6) summary
      smart00218
      Location:16451751
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd12026
      Location:610674
      SH3_ZO-1; Src homology 3 domain of the Tight junction protein, Zonula occludens protein 1
      smart00072
      Location:708887
      GuKc; Guanylate kinase homologues
      smart00228
      Location:276356
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      PRK10263
      Location:11481608
      PRK10263; DNA translocase FtsK; Provisional
      cd00992
      Location:115200
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    2. XM_047432984.1XP_047288940.1  tight junction protein ZO-1 isoform X13

      UniProtKB/TrEMBL
      Q6MZU1
    3. XM_005254619.4XP_005254676.2  tight junction protein ZO-1 isoform X9

      UniProtKB/TrEMBL
      Q6MZU1
    4. XM_047432981.1XP_047288937.1  tight junction protein ZO-1 isoform X10

      UniProtKB/TrEMBL
      Q6MZU1
    5. XM_017022524.2XP_016878013.1  tight junction protein ZO-1 isoform X5

      UniProtKB/TrEMBL
      Q6MZU1
    6. XM_011521972.3XP_011520274.2  tight junction protein ZO-1 isoform X4

      UniProtKB/TrEMBL
      A9CQZ8
    7. XM_017022523.2XP_016878012.1  tight junction protein ZO-1 isoform X3

      UniProtKB/TrEMBL
      A9CQZ8
    8. XM_017022522.2XP_016878011.1  tight junction protein ZO-1 isoform X2

      UniProtKB/TrEMBL
      A9CQZ8
    9. XM_017022521.2XP_016878010.1  tight junction protein ZO-1 isoform X1

      UniProtKB/TrEMBL
      A9CQZ8
    10. XM_047432990.1XP_047288946.1  tight junction protein ZO-1 isoform X20

      UniProtKB/TrEMBL
      Q6MZU1
    11. XM_047432989.1XP_047288945.1  tight junction protein ZO-1 isoform X19

      UniProtKB/TrEMBL
      Q6MZU1
    12. XM_047432988.1XP_047288944.1  tight junction protein ZO-1 isoform X18

      UniProtKB/TrEMBL
      Q6MZU1
    13. XM_047432986.1XP_047288942.1  tight junction protein ZO-1 isoform X16

      UniProtKB/TrEMBL
      Q6MZU1
    14. XM_047432983.1XP_047288939.1  tight junction protein ZO-1 isoform X12

      UniProtKB/TrEMBL
      A9CQZ8
    15. XM_017022526.2XP_016878015.1  tight junction protein ZO-1 isoform X7

      UniProtKB/TrEMBL
      A9CQZ8
    16. XM_047432987.1XP_047288943.1  tight junction protein ZO-1 isoform X17

      UniProtKB/TrEMBL
      G5E9E7, Q6MZU1
    17. XM_047432985.1XP_047288941.1  tight junction protein ZO-1 isoform X15

      UniProtKB/TrEMBL
      A9CQZ8
    18. XM_017022525.2XP_016878014.1  tight junction protein ZO-1 isoform X6

      UniProtKB/TrEMBL
      A9CQZ8
    19. XM_047432991.1XP_047288947.1  tight junction protein ZO-1 isoform X21

      UniProtKB/TrEMBL
      Q6MZU1
    20. XM_017022527.2XP_016878016.1  tight junction protein ZO-1 isoform X8

      UniProtKB/TrEMBL
      A9CQZ8
    21. XM_047432982.1XP_047288938.1  tight junction protein ZO-1 isoform X11

      UniProtKB/TrEMBL
      A9CQZ8

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p14 PATCHES

      Range
      1871012..2141730 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331832.1XP_054187807.1  tight junction protein ZO-1 isoform X14

      UniProtKB/TrEMBL
      Q6MZU1
    2. XM_054331829.1XP_054187804.1  tight junction protein ZO-1 isoform X13

      UniProtKB/TrEMBL
      Q6MZU1
    3. XM_054331826.1XP_054187801.1  tight junction protein ZO-1 isoform X9

      UniProtKB/TrEMBL
      Q6MZU1
    4. XM_054331827.1XP_054187802.1  tight junction protein ZO-1 isoform X10

      UniProtKB/TrEMBL
      Q6MZU1
    5. XM_054331824.1XP_054187799.1  tight junction protein ZO-1 isoform X22

      UniProtKB/TrEMBL
      Q6MZU1
    6. XM_054331821.1XP_054187796.1  tight junction protein ZO-1 isoform X5

      UniProtKB/TrEMBL
      Q6MZU1
    7. XM_054331820.1XP_054187795.1  tight junction protein ZO-1 isoform X4

      UniProtKB/TrEMBL
      A9CQZ8
    8. XM_054331819.1XP_054187794.1  tight junction protein ZO-1 isoform X3

      UniProtKB/TrEMBL
      A9CQZ8
    9. XM_054331818.1XP_054187793.1  tight junction protein ZO-1 isoform X2

      UniProtKB/TrEMBL
      A9CQZ8
    10. XM_054331817.1XP_054187792.1  tight junction protein ZO-1 isoform X1

      UniProtKB/TrEMBL
      A9CQZ8
    11. XM_054331831.1XP_054187806.1  tight junction protein ZO-1 isoform X24

      UniProtKB/TrEMBL
      A9CQZ8
    12. XM_054331842.1XP_054187817.1  tight junction protein ZO-1 isoform X20

      UniProtKB/TrEMBL
      Q6MZU1
    13. XM_054331840.1XP_054187815.1  tight junction protein ZO-1 isoform X19

      UniProtKB/TrEMBL
      Q6MZU1
    14. XM_054331838.1XP_054187813.1  tight junction protein ZO-1 isoform X18

      UniProtKB/TrEMBL
      Q6MZU1
    15. XM_054331836.1XP_054187811.1  tight junction protein ZO-1 isoform X16

      UniProtKB/TrEMBL
      Q6MZU1
    16. XM_054331823.1XP_054187798.1  tight junction protein ZO-1 isoform X7

      UniProtKB/TrEMBL
      A9CQZ8
    17. XM_054331844.1XP_054187819.1  tight junction protein ZO-1 isoform X30

      UniProtKB/TrEMBL
      Q6MZU1
    18. XM_054331837.1XP_054187812.1  tight junction protein ZO-1 isoform X17

      UniProtKB/TrEMBL
      G5E9E7, Q6MZU1
    19. XM_054331835.1XP_054187810.1  tight junction protein ZO-1 isoform X26

      UniProtKB/TrEMBL
      Q6MZU1
    20. XM_054331833.1XP_054187808.1  tight junction protein ZO-1 isoform X15

      UniProtKB/TrEMBL
      A9CQZ8
    21. XM_054331822.1XP_054187797.1  tight junction protein ZO-1 isoform X6

      UniProtKB/TrEMBL
      A9CQZ8
    22. XM_054331843.1XP_054187818.1  tight junction protein ZO-1 isoform X29

      UniProtKB/TrEMBL
      Q6MZU1
    23. XM_054331839.1XP_054187814.1  tight junction protein ZO-1 isoform X27

      UniProtKB/TrEMBL
      Q6MZU1
    24. XM_054331825.1XP_054187800.1  tight junction protein ZO-1 isoform X8

      UniProtKB/TrEMBL
      A9CQZ8
    25. XM_054331830.1XP_054187805.1  tight junction protein ZO-1 isoform X23

      UniProtKB/TrEMBL
      A9CQZ8
    26. XM_054331845.1XP_054187820.1  tight junction protein ZO-1 isoform X21

      UniProtKB/TrEMBL
      Q6MZU1
    27. XM_054331846.1XP_054187821.1  tight junction protein ZO-1 isoform X31

      UniProtKB/TrEMBL
      Q6MZU1
    28. XM_054331841.1XP_054187816.1  tight junction protein ZO-1 isoform X28

      UniProtKB/TrEMBL
      A0A0G2JNH2, Q6MZU1
    29. XM_054331834.1XP_054187809.1  tight junction protein ZO-1 isoform X25

      UniProtKB/TrEMBL
      A9CQZ8
    30. XM_054331828.1XP_054187803.1  tight junction protein ZO-1 isoform X11

      UniProtKB/TrEMBL
      A9CQZ8

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1983496..2254214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330059.1XP_054186034.1  tight junction protein ZO-1 isoform X14

      UniProtKB/TrEMBL
      Q6MZU1
    2. XM_054330056.1XP_054186031.1  tight junction protein ZO-1 isoform X13

      UniProtKB/TrEMBL
      Q6MZU1
    3. XM_054330053.1XP_054186028.1  tight junction protein ZO-1 isoform X9

      UniProtKB/TrEMBL
      Q6MZU1
    4. XM_054330054.1XP_054186029.1  tight junction protein ZO-1 isoform X10

      UniProtKB/TrEMBL
      Q6MZU1
    5. XM_054330051.1XP_054186026.1  tight junction protein ZO-1 isoform X22

      UniProtKB/TrEMBL
      Q6MZU1
    6. XM_054330048.1XP_054186023.1  tight junction protein ZO-1 isoform X5

      UniProtKB/TrEMBL
      Q6MZU1
    7. XM_054330047.1XP_054186022.1  tight junction protein ZO-1 isoform X4

      UniProtKB/TrEMBL
      A9CQZ8
    8. XM_054330046.1XP_054186021.1  tight junction protein ZO-1 isoform X3

      UniProtKB/TrEMBL
      A9CQZ8
    9. XM_054330045.1XP_054186020.1  tight junction protein ZO-1 isoform X2

      UniProtKB/TrEMBL
      A9CQZ8
    10. XM_054330044.1XP_054186019.1  tight junction protein ZO-1 isoform X1

      UniProtKB/TrEMBL
      A9CQZ8
    11. XM_054330058.1XP_054186033.1  tight junction protein ZO-1 isoform X24

      UniProtKB/TrEMBL
      A9CQZ8
    12. XM_054330069.1XP_054186044.1  tight junction protein ZO-1 isoform X20

      UniProtKB/TrEMBL
      Q6MZU1
    13. XM_054330067.1XP_054186042.1  tight junction protein ZO-1 isoform X19

      UniProtKB/TrEMBL
      Q6MZU1
    14. XM_054330065.1XP_054186040.1  tight junction protein ZO-1 isoform X18

      UniProtKB/TrEMBL
      Q6MZU1
    15. XM_054330063.1XP_054186038.1  tight junction protein ZO-1 isoform X16

      UniProtKB/TrEMBL
      Q6MZU1
    16. XM_054330050.1XP_054186025.1  tight junction protein ZO-1 isoform X7

      UniProtKB/TrEMBL
      A9CQZ8
    17. XM_054330071.1XP_054186046.1  tight junction protein ZO-1 isoform X30

      UniProtKB/TrEMBL
      Q6MZU1
    18. XM_054330064.1XP_054186039.1  tight junction protein ZO-1 isoform X17

      UniProtKB/TrEMBL
      G5E9E7, Q6MZU1
    19. XM_054330062.1XP_054186037.1  tight junction protein ZO-1 isoform X26

      UniProtKB/TrEMBL
      Q6MZU1
    20. XM_054330060.1XP_054186035.1  tight junction protein ZO-1 isoform X15

      UniProtKB/TrEMBL
      A9CQZ8
    21. XM_054330049.1XP_054186024.1  tight junction protein ZO-1 isoform X6

      UniProtKB/TrEMBL
      A9CQZ8
    22. XM_054330070.1XP_054186045.1  tight junction protein ZO-1 isoform X29

      UniProtKB/TrEMBL
      Q6MZU1
    23. XM_054330066.1XP_054186041.1  tight junction protein ZO-1 isoform X27

      UniProtKB/TrEMBL
      Q6MZU1
    24. XM_054330052.1XP_054186027.1  tight junction protein ZO-1 isoform X8

      UniProtKB/TrEMBL
      A9CQZ8
    25. XM_054330057.1XP_054186032.1  tight junction protein ZO-1 isoform X23

      UniProtKB/TrEMBL
      A9CQZ8
    26. XM_054330072.1XP_054186047.1  tight junction protein ZO-1 isoform X21

      UniProtKB/TrEMBL
      Q6MZU1
    27. XM_054330073.1XP_054186048.1  tight junction protein ZO-1 isoform X31

      UniProtKB/TrEMBL
      Q6MZU1
    28. XM_054330068.1XP_054186043.1  tight junction protein ZO-1 isoform X28

      UniProtKB/TrEMBL
      A0A0G2JNH2, Q6MZU1
    29. XM_054330061.1XP_054186036.1  tight junction protein ZO-1 isoform X25

      UniProtKB/TrEMBL
      A9CQZ8
    30. XM_054330055.1XP_054186030.1  tight junction protein ZO-1 isoform X11

      UniProtKB/TrEMBL
      A9CQZ8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      27490136..27760675 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378703.1XP_054234678.1  tight junction protein ZO-1 isoform X14

      UniProtKB/TrEMBL
      Q6MZU1
    2. XM_054378700.1XP_054234675.1  tight junction protein ZO-1 isoform X13

      UniProtKB/TrEMBL
      Q6MZU1
    3. XM_054378696.1XP_054234671.1  tight junction protein ZO-1 isoform X9

      UniProtKB/TrEMBL
      Q6MZU1
    4. XM_054378697.1XP_054234672.1  tight junction protein ZO-1 isoform X10

      UniProtKB/TrEMBL
      Q6MZU1
    5. XM_054378694.1XP_054234669.1  tight junction protein ZO-1 isoform X32

      UniProtKB/TrEMBL
      Q6MZU1
    6. XM_054378691.1XP_054234666.1  tight junction protein ZO-1 isoform X5

      UniProtKB/TrEMBL
      Q6MZU1
    7. XM_054378690.1XP_054234665.1  tight junction protein ZO-1 isoform X4

      UniProtKB/TrEMBL
      A9CQZ8
    8. XM_054378689.1XP_054234664.1  tight junction protein ZO-1 isoform X3

      UniProtKB/TrEMBL
      A9CQZ8
    9. XM_054378688.1XP_054234663.1  tight junction protein ZO-1 isoform X2

      UniProtKB/TrEMBL
      A9CQZ8
    10. XM_054378687.1XP_054234662.1  tight junction protein ZO-1 isoform X1

      UniProtKB/TrEMBL
      A9CQZ8
    11. XM_054378702.1XP_054234677.1  tight junction protein ZO-1 isoform X34

      UniProtKB/TrEMBL
      A9CQZ8
    12. XM_054378713.1XP_054234688.1  tight junction protein ZO-1 isoform X20

      UniProtKB/TrEMBL
      Q6MZU1
    13. XM_054378711.1XP_054234686.1  tight junction protein ZO-1 isoform X19

      UniProtKB/TrEMBL
      Q6MZU1
    14. XM_054378709.1XP_054234684.1  tight junction protein ZO-1 isoform X18

      UniProtKB/TrEMBL
      Q6MZU1
    15. XM_054378707.1XP_054234682.1  tight junction protein ZO-1 isoform X16

      UniProtKB/TrEMBL
      Q6MZU1
    16. XM_054378699.1XP_054234674.1  tight junction protein ZO-1 isoform X12

      UniProtKB/TrEMBL
      A9CQZ8
    17. XM_054378693.1XP_054234668.1  tight junction protein ZO-1 isoform X7

      UniProtKB/TrEMBL
      A9CQZ8
    18. XM_054378715.1XP_054234690.1  tight junction protein ZO-1 isoform X40

      UniProtKB/TrEMBL
      Q6MZU1
    19. XM_054378708.1XP_054234683.1  tight junction protein ZO-1 isoform X17

      UniProtKB/TrEMBL
      G5E9E7, Q6MZU1
    20. XM_054378706.1XP_054234681.1  tight junction protein ZO-1 isoform X36

      UniProtKB/TrEMBL
      Q6MZU1
    21. XM_054378704.1XP_054234679.1  tight junction protein ZO-1 isoform X15

      UniProtKB/TrEMBL
      A9CQZ8
    22. XM_054378692.1XP_054234667.1  tight junction protein ZO-1 isoform X6

      UniProtKB/TrEMBL
      A9CQZ8
    23. XM_054378716.1XP_054234691.1  tight junction protein ZO-1 isoform X21

      UniProtKB/TrEMBL
      Q6MZU1
    24. XM_054378714.1XP_054234689.1  tight junction protein ZO-1 isoform X39

      UniProtKB/TrEMBL
      Q6MZU1
    25. XM_054378710.1XP_054234685.1  tight junction protein ZO-1 isoform X37

      UniProtKB/TrEMBL
      Q6MZU1
    26. XM_054378695.1XP_054234670.1  tight junction protein ZO-1 isoform X8

      UniProtKB/TrEMBL
      A9CQZ8
    27. XM_054378701.1XP_054234676.1  tight junction protein ZO-1 isoform X33

      UniProtKB/TrEMBL
      A9CQZ8
    28. XM_054378717.1XP_054234692.1  tight junction protein ZO-1 isoform X41

      UniProtKB/TrEMBL
      Q6MZU1
    29. XM_054378712.1XP_054234687.1  tight junction protein ZO-1 isoform X38

      UniProtKB/TrEMBL
      A0A0G2JNH2, Q6MZU1
    30. XM_054378705.1XP_054234680.1  tight junction protein ZO-1 isoform X35

      UniProtKB/TrEMBL
      A9CQZ8
    31. XM_054378698.1XP_054234673.1  tight junction protein ZO-1 isoform X11

      UniProtKB/TrEMBL
      A9CQZ8