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Aliases for TJP1 Gene

Aliases for TJP1 Gene

  • Tight Junction Protein 1 2 3 4 5
  • Zona Occludens 1 2 3
  • Tight Junction Protein ZO-1 2
  • 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 Sertoli-Sertoli Cell Junction Dynamics and Signaling by GPCR. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TJP1 Gene

Genomics for TJP1 Gene

Regulatory Elements for TJP1 Gene

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).
    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

Proteomics data for TJP1 Gene at MOPED

Post-translational modifications for TJP1 Gene

  • Phosphorylated. Dephosphorylated by PTPRJ.
  • Ubiquitination at Lys 553, Lys 695, Lys 702, Lys 1189, and Lys 1601
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TJP1 (ZO1)

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.
  • Contains 1 guanylate kinase-like domain.
  • Contains 3 PDZ (DHR) domains.
  • Contains 1 SH3 domain.
  • Contains 1 ZU5 domain.
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.
genes like me logo Genes that share phenotypes with TJP1: view

Animal Models for TJP1 Gene

MGI Knock Outs for TJP1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TJP1 Gene COMPARTMENTS Subcellular localization image for TJP1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
nucleus 4
cytoskeleton 3
extracellular 2
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TJP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11734628
GO:0005886 plasma membrane TAS --
GO:0005923 bicellular tight junction IEA,IDA 11734628
GO:0014704 intercalated disc IEA --
GO:0016020 membrane 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:0012501 programmed cell death TAS --
GO:0061024 membrane organization TAS --
GO:0090557 establishment of endothelial intestinal barrier IMP 23885123
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

(28) Drugs for TJP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(26) 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:

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 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, MOPED, and MaxQB for TJP1 Gene



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.
genes like me logo Genes that share expression patterns with TJP1: view

Protein tissue co-expression partners for TJP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia TJP1 35
  • 79.13 (n)
  • 82.12 (a)
ZO1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TJP1 35
  • 91.55 (n)
  • 94.16 (a)
TJP1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tjp1 35
  • 87.93 (n)
  • 91.06 (a)
Tjp1 16
Tjp1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TJP1 35
  • 99.79 (n)
  • 99.94 (a)
TJP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tjp1 35
  • 87.9 (n)
  • 91.11 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
chicken
(Gallus gallus)
Aves TJP1 35
  • 78.78 (n)
  • 82.87 (a)
TJP1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TJP1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.718 35
tjp1 35
  • 73.6 (n)
  • 76.87 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14146 35
zebrafish
(Danio rerio)
Actinopterygii tjp1a 35
  • 66.52 (n)
  • 72 (a)
tjp1a 36
  • 67 (a)
OneToMany
tjp1b 36
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta pyd 37
  • 35 (a)
pyd 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea zoo-1 36
  • 31 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1605 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for TJP1:
  • 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

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
rs2229517 - 29,734,378(-) GGTAA(A/G)CAACG reference, missense
VAR_025154 -
rs45529137 - 29,719,991(-) AGTCC(C/T)TTACC intron-variant, reference, missense
rs45567033 - 29,718,813(-) TCAGC(A/G)CTCTC reference, missense
rs2291166 - 29,716,773(+) CAGGG(G/T)CATAA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv522597 CNV Loss 19592680
esv2751526 CNV Loss 17911159
nsv527255 CNV Gain 19592680
nsv903747 CNV Gain 21882294
nsv832944 CNV Gain+Loss 17160897
nsv832945 CNV Gain 17160897
esv2422463 CNV Duplication 17116639
dgv2292n71 CNV Gain 21882294
nsv819003 CNV Loss 19587683
esv2675583 CNV Deletion 23128226
nsv827275 CNV Gain 20364138

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

HapMap Linkage Disequilibrium report
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
colorectal cancer
  • colorectal cancer, somatic
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. 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 23 67
  2. ZO-1 is involved in trophoblastic cell differentiation in human placenta. (PMID: 20200207) Pidoux G. … Frendo J.L. (Am. J. Physiol., Cell Physiol. 2010) 3 23
  3. Phosphorylation of Tyr-398 and Tyr-402 in occludin prevents its interaction with ZO-1 and destabilizes its assembly at the tight junctions. (PMID: 19017651) Elias B.C. … Rao R. (J. Biol. Chem. 2009) 3 23
  4. Flavivirus NS5 associates with host-cell proteins zonula occludens-1 (ZO-1) and regulating synaptic membrane exocytosis-2 (RIMS2) via an internal PDZ binding mechanism. (PMID: 19199833) Ellencrona K. … Johansson M. (Biol. Chem. 2009) 3 23
  5. 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 23

Products for TJP1 Gene

Sources for TJP1 Gene

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