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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 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]

GeneCards Summary for TJP1 Gene

TJP1 (Tight Junction Protein 1) is a Protein Coding gene. Diseases associated with TJP1 include Nephrotic Syndrome, Type 1 and Celiac Disease 1. Among its related pathways are PAK Pathway and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for TJP1 Gene

Promoters and enhancers for TJP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I029819 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.1 +147.2 147202 4.2 PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A YY1 POLR2B FOS SP3 ENSG00000259523 TJP1 HMGN2P5 ENSG00000215302 ENSG00000270055 GC15P029731
GH15I029968 Promoter/Enhancer 1.1 Ensembl dbSUPER 550.8 +0.1 64 0.8 L3MBTL2 ZBTB8A ZNF335 CBX8 ZFX ZBTB26 CHD2 EZH2 ZBTB20 TJP1 PIR59410 GC15M029950
GH15I029969 Enhancer 0.6 dbSUPER 555.6 -1.3 -1347 0.7 FOXA2 RFX1 RXRA NFYC FEZF1 FOXA1 CREB1 HNF4A PRDM1 EZH2 TJP1 NCAPGP2
GH15I029924 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +43.4 43445 2.8 FOXA2 RB1 KLF17 SIN3A MZF1 ZNF76 ZNF2 RAD21 GLIS2 ZNF366 TJP1 GC15M029950 PIR59410 ENSG00000259523
GH15I029920 Enhancer 1 Ensembl ENCODE dbSUPER 10.2 +47.7 47706 1.9 ZNF189 ZIC2 OSR2 ZFHX2 JUND MAFF ZNF366 ZNF600 FOS FOSL2 TJP1 GC15M029950 PIR59410 ENSG00000259523
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TJP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TJP1 gene promoter:

Genomic Locations for TJP1 Gene

Genomic Locations for TJP1 Gene
chr15:29,699,367-29,968,865
(GRCh38/hg38)
Size:
269,499 bases
Orientation:
Minus strand
chr15:29,991,571-30,261,068
(GRCh37/hg19)

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 isoforms=2553, isoforms=2695, isoforms=2702, posLast=11891189, and isoforms=21601

No data available for DME Specific Peptides for TJP1 Gene

Domains & Families for TJP1 Gene

Gene 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.

Phenotypes From GWAS Catalog for TJP1 Gene

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:

Clone Products

  • Addgene plasmids for TJP1

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
extracellular 3
cytoskeleton 3
nucleus 3
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
See all subcellular structures

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 TAS,IDA --
GO:0005886 plasma membrane TAS,IDA --
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:

Clone Products

  • Addgene plasmids for TJP1

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)
  • Spleen(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with TJP1: view

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 33 34
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia TJP1 33 34
  • 91.55 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 89 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Tjp1 33 16 34
  • 87.93 (n)
rat
(Rattus norvegicus)
Mammalia Tjp1 33
  • 87.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 85 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ZO1 34
  • 82 (a)
OneToOne
TJP1 33
  • 79.13 (n)
chicken
(Gallus gallus)
Aves TJP1 33 34
  • 78.78 (n)
lizard
(Anolis carolinensis)
Reptilia TJP1 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tjp1 33
  • 73.6 (n)
Str.718 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14146 33
zebrafish
(Danio rerio)
Actinopterygii tjp1a 33 34
  • 66.52 (n)
tjp1b 34
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta pyd 35 34
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea zoo-1 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1605 33
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 Variation AA Info Type
rs1000006477 -- 29,866,503(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000014429 -- 29,805,764(-) T/C intron_variant
rs1000051309 -- 29,917,647(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000052937 -- 29,745,196(-) C/T intron_variant
rs1000056857 -- 29,937,278(-) C/T genic_upstream_transcript_variant, 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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
nephrotic syndrome, type 1
  • nphs1
celiac disease 1
  • celiac disease, susceptibility to, 1
inflammatory bowel disease
  • inflammatory bowel diseases
ewing sarcoma
  • es
night blindness, congenital stationary, type 1a
  • night blindness, congenital stationary, type 2a
- elite association - COSMIC cancer census association via MalaCards
Search TJP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 JL … Burridge K (The Journal of biological chemistry 2009) 3 4 22 58
  2. Evidence for a functional interaction between cingulin and ZO-1 in cultured cells. (PMID: 12023291) D'Atri F … Citi S (The Journal of biological chemistry 2002) 3 4 22 58
  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 JM (Proceedings of the National Academy of Sciences of the United States of America 1993) 3 4 22 58
  4. Loss of DLG5 promotes breast cancer malignancy by inhibiting the Hippo signaling pathway. (PMID: 28169360) Liu J … Liu P (Scientific reports 2017) 3 4 58
  5. Cdc42-dependent formation of the ZO-1/MRCKβ complex at the leading edge controls cell migration. (PMID: 21240187) Huo L … Zhang M (The EMBO journal 2011) 3 4 58

Products for TJP1 Gene

  • Addgene plasmids for TJP1

Sources for TJP1 Gene

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