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

Gene ID: 7082, updated on 3-Feb-2020

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
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

Genomic context

See TJP1 in Genome Data Viewer
Location:
15q13.1
Exon count:
33
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (29699367..29969049, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (29992338..30261038, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100130111 Neighboring gene uncharacterized LOC105370743 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 5 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

NHGRI GWAS Catalog

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

Homology

Clone Names

  • MGC133289, DKFZp686M05161

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell-cell junction assembly TAS
Traceable Author Statement
more info
PubMed 
cell-cell signaling involved in cell-cell junction organization NAS
Non-traceable Author Statement
more info
PubMed 
establishment of endothelial intestinal barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
hippo signaling TAS
Traceable Author Statement
more info
 
regulation of bicellular tight junction assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical junction complex IDA
Inferred from Direct Assay
more info
PubMed 
apical part of cell IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cell junction TAS
Traceable Author Statement
more info
 
cell projection IEA
Inferred from Electronic Annotation
more info
 
cell-cell adherens junction TAS
Traceable Author Statement
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
gap junction ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
podosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    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
    A9CQZ8, 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_001330239.3NP_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)
    AB370197, AC022613, AF035298, BE819398, CV571135, DA261260
    Consensus CDS
    CCDS81858.1
    UniProtKB/TrEMBL
    G3V1L9
    Related
    ENSP00000348416.6, ENST00000356107.10
    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
    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
    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
    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
    Related
    ENSP00000483470.1, ENST00000614355.4
    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
    Q07157
    UniProtKB/TrEMBL
    Q6MZU1
    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/Swiss-Prot
    Q07157
    UniProtKB/TrEMBL
    B4DZK4, 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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005254620.3XP_005254677.2  tight junction protein ZO-1 isoform X10

  2. XM_017022524.1XP_016878013.1  tight junction protein ZO-1 isoform X5

  3. XM_017022523.1XP_016878012.1  tight junction protein ZO-1 isoform X3

  4. XM_017022521.1XP_016878010.1  tight junction protein ZO-1 isoform X1

  5. XM_017022531.1XP_016878020.1  tight junction protein ZO-1 isoform X11

  6. XM_017022526.1XP_016878015.1  tight junction protein ZO-1 isoform X7

  7. XM_017022527.1XP_016878016.1  tight junction protein ZO-1 isoform X8

  8. XM_017022525.1XP_016878014.1  tight junction protein ZO-1 isoform X6

  9. XM_011521972.2XP_011520274.2  tight junction protein ZO-1 isoform X4

  10. XM_017022522.1XP_016878011.1  tight junction protein ZO-1 isoform X2

  11. XM_005254619.3XP_005254676.2  tight junction protein ZO-1 isoform X9

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p13 PATCHES

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p13 ALT_REF_LOCI_2

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