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Aliases for TJP1 Gene

Aliases for TJP1 Gene

  • Tight Junction Protein 1 2 3 4 5
  • Tight Junction Protein ZO-1 2 3
  • Zona Occludens 1 2 3
  • Zonula Occludens 1 Protein 3
  • Zonula Occludens Protein 1 4
  • Zona Occludens Protein 1 4
  • ZO-1 3
  • ZO1 4

External Ids for TJP1 Gene

Previous GeneCards Identifiers for TJP1 Gene

  • GC15M025498
  • GC15M022747
  • GC15M027572
  • GC15M027708
  • GC15M027779
  • GC15M029991
  • GC15M007657

Summaries for TJP1 Gene

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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for TJP1 Gene

TJP1 (Tight Junction Protein 1) is a Protein Coding gene. Diseases associated with TJP1 include Celiac Disease and Congenital Nephrotic Syndrome Finnish Type. Among its related pathways are Signaling in Gap Junctions and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include protein domain specific binding and protein C-terminus binding. An important paralog of this gene is TJP2.

UniProtKB/Swiss-Prot for TJP1 Gene

  • 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 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TJP1 Gene

Genomics for TJP1 Gene

Regulatory Elements for TJP1 Gene

Enhancers for TJP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G029924 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +43.4 43445 2.8 FOXA2 RB1 ZNF76 KLF17 SIN3A ZNF2 RAD21 GLIS2 ZNF366 ZNF143 TJP1 GC15M029950 PIR59410 ENSG00000259523
GH15G029920 1.2 Ensembl ENCODE dbSUPER 10.2 +47.7 47706 1.9 TEAD4 ZNF394 ZIC2 OSR2 ZFHX2 JUND MAFF ZNF366 FOS PRDM10 TJP1 GC15M029950 PIR59410 ENSG00000259523
GH15G029933 1 ENCODE dbSUPER 10.1 +33.8 33849 3.2 CTCF JUN BRCA1 RAD21 RFX5 GATA2 SMC3 RCOR1 FOS DEK TJP1 ENSG00000270015 PIR59410 GC15M029950 ENSG00000259523
GH15G029937 0.9 ENCODE dbSUPER 8.6 +30.4 30382 1.9 CTCF JUN ZSCAN4 CEBPB RAD21 OSR2 ZNF664 PRDM6 JUND ZNF341 ENSG00000229389 TJP1 ENSG00000270015 GC15M029950 PIR59410 ENSG00000259523
GH15G029967 0.8 dbSUPER 6.4 -0.6 -559 4.3 FOXA2 SUZ12 FEZF1 RBBP5 ZNF121 POLR2A ZBTB20 EZH2 RFX1 L3MBTL2 TJP1 NCAPGP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TJP1 on UCSC Golden Path with GeneCards custom track

Promoters for TJP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000074348 65 801 L3MBTL2 RNF2 SUZ12 ZBTB8A RBBP5 CBX8 ZFX ZBTB26 ZBTB20 EZH2

Genomic Location for TJP1 Gene

Chromosome:
15
Start:
29,699,367 bp from pter
End:
29,968,865 bp from pter
Size:
269,499 bases
Orientation:
Minus strand

Genomic View for TJP1 Gene

Genes around TJP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TJP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TJP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TJP1 Gene

Proteins for TJP1 Gene

  • Protein details for TJP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07157-ZO1_HUMAN
    Recommended name:
    Tight junction protein ZO-1
    Protein Accession:
    Q07157
    Secondary Accessions:
    • B4E3K1
    • Q2NKP3
    • Q4ZGJ6

    Protein attributes for TJP1 Gene

    Size:
    1748 amino acids
    Molecular mass:
    195459 Da
    Quaternary structure:
    • Homodimer, and heterodimer with TJP2/ZO-2 and TJP3/ZO-3 (PubMed:17928286, PubMed:16737969). Interacts with OCLN, CALM, claudins, CGN/cingulin, CXADR, GJA12, GJD3 and UBN1 (PubMed:11734628, PubMed:12023291, PubMed:12154091, PubMed:15183511, PubMed:18823282, PubMed:20200156). Interacts (via ZU5 domain) with CDC42BPB and MYZAP (PubMed:20093627, PubMed:21240187). Interacts (via PDZ domain) with GJA1 (PubMed:18636092). Interacts (via PDZ domains) with ANKRD2 (PubMed:22016770). Interacts with BVES (via the C-terminus cytoplasmic tail) (By similarity). Interacts with HSPA4 and KIRREL1 (By similarity). Interacts with DLL1 (By similarity). Interacts with USP53 (via the C-terminal region) (By similarity).
    SequenceCaution:
    • Sequence=AAA02891.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TJP1 Gene

    Alternative splice isoforms for TJP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TJP1 Gene

Post-translational modifications for TJP1 Gene

  • Phosphorylated. Dephosphorylated by PTPRJ.
  • Ubiquitination at posLast=553553, isoforms=2695, isoforms=2702, Lys1189, and isoforms=21601
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TJP1 (ZO1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for TJP1

No data available for DME Specific Peptides for TJP1 Gene

Domains & Families for TJP1 Gene

Suggested Antigen Peptide Sequences for TJP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q07157

UniProtKB/Swiss-Prot:

ZO1_HUMAN :
  • The second PDZ domain mediates interaction with GJA12.
  • Belongs to the MAGUK family.
Domain:
  • The second PDZ domain mediates interaction with GJA12.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with TJP1: view

Function for TJP1 Gene

Molecular function for TJP1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for TJP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9707407
GO:0005516 calmodulin binding IEA --
GO:0008022 protein C-terminus binding IEA --
GO:0019904 protein domain specific binding IEA --
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with TJP1: view
genes like me logo Genes that share phenotypes with TJP1: view

Animal Models for TJP1 Gene

MGI Knock Outs for TJP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TJP1 Gene

Localization for TJP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TJP1 Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TJP1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 3
nucleus 3
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for TJP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 11734628
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IDA,TAS --
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with TJP1: view

Pathways & Interactions for TJP1 Gene

genes like me logo Genes that share pathways with TJP1: view

Gene Ontology (GO) - Biological Process for TJP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007043 cell-cell junction assembly TAS 8486731
GO:0007605 sensory perception of sound IEA --
GO:0032496 response to lipopolysaccharide IEA --
GO:0035329 hippo signaling TAS --
GO:0042493 response to drug IEA --
genes like me logo Genes that share ontologies with TJP1: view

No data available for SIGNOR curated interactions for TJP1 Gene

Drugs & Compounds for TJP1 Gene

(33) Drugs for TJP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(21) Additional Compounds for TJP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TJP1: view

Transcripts for TJP1 Gene

Unigene Clusters for TJP1 Gene

Tight junction protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TJP1 Gene

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for TJP1 Gene

GeneLoc Exon Structure for
TJP1
ECgene alternative splicing isoforms for
TJP1

Expression for TJP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TJP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TJP1 Gene

This gene is overexpressed in Testis (10.7), Gallbladder (6.9), and Fetal ovary (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TJP1 Gene



Protein tissue co-expression partners for TJP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TJP1 Gene:

TJP1

SOURCE GeneReport for Unigene cluster for TJP1 Gene:

Hs.743990

mRNA Expression by UniProt/SwissProt for TJP1 Gene:

Q07157-ZO1_HUMAN
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.

Evidence on tissue expression from TISSUES for TJP1 Gene

  • Liver(4.6)
  • Nervous system(4.6)
  • Heart(3.4)
  • Intestine(3.3)
  • Kidney(3.3)
  • Eye(3.2)
  • Blood(3.1)
  • Lung(3.1)
  • Muscle(2.6)
  • Skin(2.4)
  • Pancreas(2.1)
  • Stomach(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with TJP1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TJP1 Gene

Orthologs for TJP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TJP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TJP1 34 35
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia TJP1 34 35
  • 91.55 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 89 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Tjp1 34 16 35
  • 87.93 (n)
rat
(Rattus norvegicus)
Mammalia Tjp1 34
  • 87.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 85 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ZO1 35
  • 82 (a)
OneToOne
TJP1 34
  • 79.13 (n)
chicken
(Gallus gallus)
Aves TJP1 34 35
  • 78.78 (n)
lizard
(Anolis carolinensis)
Reptilia TJP1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tjp1 34
  • 73.6 (n)
Str.718 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.14146 34
zebrafish
(Danio rerio)
Actinopterygii tjp1a 34 35
  • 66.52 (n)
tjp1b 35
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta pyd 36 35
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea zoo-1 35
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1605 34
Species where no ortholog for TJP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TJP1 Gene

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

Paralogs for TJP1 Gene

Paralogs for TJP1 Gene

Pseudogenes.org Pseudogenes for TJP1 Gene

genes like me logo Genes that share paralogs with TJP1: view

Variants for TJP1 Gene

Sequence variations from dbSNP and Humsavar for TJP1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000006477 -- 29,866,503(+) GGAAA(A/T)CAAAT intron-variant
rs1000014429 -- 29,805,764(+) TGTTA(C/T)GGAAG intron-variant
rs1000051309 -- 29,917,647(+) GGTGG(A/G)TGTAG intron-variant
rs1000052937 -- 29,745,196(+) ATTTA(C/T)ACCAA intron-variant
rs1000056857 -- 29,937,278(+) CAAAC(C/T)TTGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TJP1 Gene

Variant ID Type Subtype PubMed ID
esv2422463 CNV duplication 17116639
esv2674588 CNV deletion 23128226
esv2675583 CNV deletion 23128226
esv2751526 CNV loss 17911159
esv2751527 CNV gain 17911159
esv2761860 CNV loss 21179565
esv3552262 CNV deletion 23714750
esv3552263 CNV deletion 23714750
esv3552264 CNV deletion 23714750
esv3636022 CNV loss 21293372
esv3636023 CNV loss 21293372
esv3892641 CNV gain 25118596
nsv1039798 CNV gain 25217958
nsv1040778 CNV loss 25217958
nsv1070690 CNV deletion 25765185
nsv1140132 CNV insertion 24896259
nsv1144724 CNV deletion 24896259
nsv1148560 OTHER inversion 26484159
nsv456739 CNV gain 19166990
nsv472469 CNV novel sequence insertion 20440878
nsv521157 CNV gain 19592680
nsv522597 CNV loss 19592680
nsv527255 CNV gain 19592680
nsv568675 CNV gain 21841781
nsv568716 CNV gain 21841781
nsv819003 CNV loss 19587683
nsv827275 CNV gain 20364138
nsv832944 CNV gain+loss 17160897
nsv832945 CNV gain 17160897
nsv952593 CNV deletion 24416366
nsv984039 CNV duplication 23825009

Variation tolerance for TJP1 Gene

Residual Variation Intolerance Score: 3.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.75; 83.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TJP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TJP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TJP1 Gene

Disorders for TJP1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for TJP1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
celiac disease
  • celiac sprue
congenital nephrotic syndrome finnish type
  • finnish congenital nephrosis
acute vascular insufficiency of intestine
  • acute gastrointestinal tract vascular insuffic.
sciatic neuropathy
pulmonary neuroendocrine tumor
  • neuroendocrine neoplasm of lung
- elite association - COSMIC cancer census association via MalaCards
Search TJP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TJP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TJP1
genes like me logo Genes that share disorders with TJP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TJP1 Gene

Publications for TJP1 Gene

  1. Density-enhanced phosphatase 1 regulates phosphorylation of tight junction proteins and enhances barrier function of epithelial cells. (PMID: 19332538) Sallee J.L. … Burridge K. (J. Biol. Chem. 2009) 3 4 22 64
  2. Evidence for a functional interaction between cingulin and ZO-1 in cultured cells. (PMID: 12023291) D'Atri F. … Citi S. (J. Biol. Chem. 2002) 3 4 22 64
  3. The tight junction protein ZO-1 is homologous to the Drosophila discs-large tumor suppressor protein of septate junctions. (PMID: 8395056) Willott E. … Anderson J.M. (Proc. Natl. Acad. Sci. U.S.A. 1993) 3 4 22 64
  4. Cdc42-dependent formation of the ZO-1/MRCKbeta complex at the leading edge controls cell migration. (PMID: 21240187) Huo L. … Zhang M. (EMBO J. 2011) 3 4 64
  5. Solution structure of the second PDZ domain of Zonula Occludens 1. (PMID: 21387411) Ji P. … Shi Y. (Proteins 2011) 3 4 64

Products for TJP1 Gene

  • Addgene plasmids for TJP1

Sources for TJP1 Gene

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