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/d... See more...

Aliases for TJP1 Gene

Aliases for TJP1 Gene

  • Tight Junction Protein 1 2 3 4 5
  • Tight Junction Protein ZO-1 2 3 4
  • Zona Occludens 1 2 3
  • ZO-1 2 3
  • Zonula Occludens 1 Protein 3
  • Zonula Occludens Protein 1 4
  • Zona Occludens Protein 1 4
  • DKFZp686M05161 2
  • MGC133289 2
  • TJP1 5
  • 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 Neovascular Glaucoma and Brain Edema. Among its related pathways are Signaling by GPCR and Pathogenic Escherichia coli infection. 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 ENSG00000285130.

UniProtKB/Swiss-Prot Summary for TJP1 Gene

  • TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton (PubMed:7798316, PubMed:9792688). The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Necessary for lumenogenesis, and particularly efficient epithelial polarization and barrier formation (By similarity). Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of migrating cells (PubMed:21240187). Plays an important role in podosome formation and associated function, thus regulating cell adhesion and matrix remodeling (PubMed:20930113). With TJP2 and TJP3, participates in the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus (By similarity).

Gene Wiki entry for TJP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TJP1 Gene

Genomics for TJP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH15J029819 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.1 +147.8 147848 5.6 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 CTCF TARDBP JUND FOXA1 PRDM1 ENSG00000259523 TJP1 NSMCE3 piR-61945-152 lnc-FAM189A1-8 FAM189A1
GH15J029968 Promoter/Enhancer 1.2 EPDnew Ensembl dbSUPER 606.3 +0.3 348 1.4 EZH2 ZBTB20 CHD2 ZBTB26 ZNF335 ZFX CBX8 L3MBTL2 ZNF121 ZBTB8A TJP1 lnc-FAM189A1-8 FAM189A1
GH15J029969 Enhancer 0.6 dbSUPER 605.5 -1.2 -1163 0.7 CREB1 PRDM1 RFX1 SP1 FOXA2 FOXA1 HNF4A FEZF1 RXRA NFYC TJP1 NCAPGP2 GOLGA8J
GH15J029924 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 +43.9 43946 3.4 CTCF TEAD4 PRDM10 ZNF629 KDM1A PRDM1 REST POLR2A ZNF561 SP1 TJP1 lnc-GOLGA8J-1 lnc-FAM189A1-8 RF00017-1726 FAM189A1
GH15J029913 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 +54.9 54948 2.2 PRDM1 ZIC2 ZSCAN4 TCF7L2 CEBPB WT1 ZFHX2 POLR2A PRDM6 GLIS1 TJP1 lnc-GOLGA8J-1 RF00017-1726 lnc-FAM189A1-8 FAM189A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TJP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TJP1

Top Transcription factor binding sites by QIAGEN in the TJP1 gene promoter:
  • AML1a
  • AP-4
  • E47
  • Elk-1
  • GATA-1
  • HNF-3beta
  • Msx-1
  • Pbx1a
  • RORalpha1

Genomic Locations for TJP1 Gene

Genomic Locations for TJP1 Gene
chr15:29,699,367-29,969,049
(GRCh38/hg38)
Size:
269,683 bases
Orientation:
Minus strand
chr15:29,991,571-30,261,068
(GRCh37/hg19)
Size:
269,498 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 (PubMed:17928286). Forms heterodimers (via the PDZ2 domain) with TJP2 and TJP3 (PubMed:9792688, PubMed:17928286, PubMed:16737969). Interacts with OCLN, CALM, claudins, CGN/cingulin, CXADR, GJA12, GJD3 and UBN1 (PubMed:7798316, 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). Interacts (via ABR region) with F-actin (PubMed:9792688, PubMed:12354695, PubMed:20930113). Interacts with DNMBP (via C-terminal domain); required for the apical cell-cell junction localization of DNMBP (PubMed:17015620).
    SequenceCaution:
    • Sequence=AAA02891.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 at tyrosine redidues in response to epidermal growth factor (EGF) (PubMed:19332538, PubMed:7542259). This response is dependent on an intact actin microfilament system (PubMed:7542259). Dephosphorylated by PTPRJ (PubMed:19332538).
  • Ubiquitination at Lys553, Lys695, Lys702, Lys1189, and Lys1601
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for TJP1

No data available for DME Specific Peptides for TJP1 Gene

Domains & Families for TJP1 Gene

Gene Families for TJP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for TJP1 Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
  • ZU5 domain
  • Zona occludens protein family signature
  • Zona occludens protein ZO-1 signature
ProtoNet:

Suggested Antigen Peptide Sequences for TJP1 Gene

GenScript: Design optimal peptide antigens:
  • Tight junction protein ZO-1 (A9CQZ8_HUMAN)
  • Tight junction protein ZO-1 (Q9H317_HUMAN)
  • Zonula occludens protein 1 (ZO1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q07157

UniProtKB/Swiss-Prot:

ZO1_HUMAN :
  • The 244-aa domain between residues 633 and 876 is the primary occludin (OCLN)-binding site and is required for stable association with the tight junction (PubMed:9792688).
  • Belongs to the MAGUK family.
Domain:
  • The 244-aa domain between residues 633 and 876 is the primary occludin (OCLN)-binding site and is required for stable association with the tight junction (PubMed:9792688).
  • The C-terminal region (residues 1151-1372) is an actin-binding region (ABR) that interacts directly with F-actin and plays an important role in the localization of TJP1 at junctions (PubMed:9792688, PubMed:12354695, PubMed:20930113). The ABR is also required for the localization to puncta at the free edge of cells before initiation of cell-cell contact (PubMed:12354695). The ABR is also necessary for TJP1 recruitment to podosomes (PubMed:20930113).
  • The second PDZ domain (PDZ2) mediates homodimerization and heterodimerization with TJP2 and TJP3 (PubMed:9792688, PubMed:17928286).
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

UniProtKB/Swiss-Prot Function:
TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton (PubMed:7798316, PubMed:9792688). The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Necessary for lumenogenesis, and particularly efficient epithelial polarization and barrier formation (By similarity). Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of migrating cells (PubMed:21240187). Plays an important role in podosome formation and associated function, thus regulating cell adhesion and matrix remodeling (PubMed:20930113). With TJP2 and TJP3, participates in the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus (By similarity).
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

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 IEA,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 HDA 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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. Cell projection, podosome. Note=Moves from the cytoplasm to the cell membrane concurrently with cell-cell contact (PubMed:7798316). At podosomal sites, is predominantly localized in the ring structure surrounding the actin core (PubMed:20930113). {ECO:0000269 PubMed:20930113, ECO:0000269 PubMed:7798316}.

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 4
nucleus 4
extracellular 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 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:0002102 podosome IEA --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 11734628
GO:0005829 cytosol IDA,TAS --
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

Pathways by source for TJP1 Gene

3 GeneGo (Thomson Reuters) pathways for TJP1 Gene
  • Cell adhesion Gap junctions
  • Cell adhesion Tight junctions
  • Cell adhesion_Endothelial cell contacts by junctional mechanisms
5 Qiagen pathways for TJP1 Gene
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics
  • Sertoli-Sertoli Cell Junction Dynamics
  • Signaling in Gap Junctions
2 Cell Signaling Technology pathways for TJP1 Gene

SIGNOR curated interactions for TJP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for TJP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001825 blastocyst formation IEA --
GO:0007043 cell-cell junction assembly TAS 8486731
GO:0007605 sensory perception of sound IEA --
GO:0030335 positive regulation of cell migration IMP 25753039
GO:0031032 actomyosin structure organization IMP 25753039
genes like me logo Genes that share ontologies with TJP1: view

Drugs & Compounds for TJP1 Gene

(34) Drugs for TJP1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Risperidone Approved, Investigational Pharma Antagonist, Inverse agonist SR-2A inhibitor 532

(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

mRNA/cDNA for TJP1 Gene

9 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for TJP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TJP1 Gene



Protein tissue co-expression partners for TJP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Nervous system(4.7)
  • Heart(3.8)
  • Intestine(3.7)
  • Kidney(3.6)
  • Lung(3.5)
  • Blood(3.5)
  • Eye(3.5)
  • Skin(3.4)
  • Muscle(3.3)
  • Spleen(3.1)
  • Pancreas(3)
  • Stomach(2.9)
  • Lymph node(2.7)
  • Thyroid gland(2.6)
  • Adrenal gland(2.3)
  • Gall bladder(2.3)
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 30 31
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TJP1 30 31
  • 91.55 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 89 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Tjp1 30 17 31
  • 87.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tjp1 30
  • 87.9 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 85 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia ZO1 31
  • 82 (a)
OneToOne
TJP1 30
  • 79.13 (n)
Chicken
(Gallus gallus)
Aves TJP1 30 31
  • 78.78 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TJP1 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tjp1 30
  • 73.6 (n)
Str.718 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.14146 30
Zebrafish
(Danio rerio)
Actinopterygii tjp1a 30 31
  • 66.52 (n)
OneToMany
tjp1b 31
  • 62 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta pyd 31 32
  • 22 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea zoo-1 31
  • 31 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1605 30
Species where no ortholog for TJP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for TJP1: view image

Paralogs for TJP1 Gene

Paralogs for TJP1 Gene

(9) SIMAP similar genes for TJP1 Gene using alignment to 10 proteins:

  • ZO1_HUMAN
  • A9CQZ8_HUMAN
  • G3V1L9_HUMAN
  • G5E9E7_HUMAN
  • H0Y3R8_HUMAN
  • H0YKB1_HUMAN
  • H0YLT6_HUMAN
  • J3QKQ9_HUMAN
  • L0R559_HUMAN
  • Q9H317_HUMAN

Pseudogenes.org Pseudogenes for TJP1 Gene

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

Variants for TJP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TJP1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
714590 Benign: not provided 29,719,847(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
765446 Benign: not provided 29,718,913(-) G/T MISSENSE_VARIANT
771470 Benign: not provided 29,734,378(-) T/C MISSENSE_VARIANT
784613 Benign: not provided 29,718,927(-) C/T MISSENSE_VARIANT
rs2229515 - p.Ile790Val

Additional dbSNP identifiers (rs#s) for TJP1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TJP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
neovascular glaucoma
  • secondary angle-closure glaucoma with rubeosis
brain edema
  • intracranial swelling
interstitial cystitis
  • pbs
encephalitis
obstructive jaundice
  • cholestatic jaundice
- elite association - COSMIC cancer census association via MalaCards
Search TJP1 in MalaCards View complete list of genes associated with diseases
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 23
  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 23
  3. The tight junction protein ZO-1 establishes a link between the transmembrane protein occludin and the actin cytoskeleton. (PMID: 9792688) Fanning AS … Anderson JM (The Journal of biological chemistry 1998) 3 4 23
  4. Epidermal growth factor induces tyrosine phosphorylation and reorganization of the tight junction protein ZO-1 in A431 cells. (PMID: 7542259) Van Itallie CM … Anderson JM (Journal of cell science 1995) 3 4 23
  5. Direct association of occludin with ZO-1 and its possible involvement in the localization of occludin at tight junctions. (PMID: 7798316) Furuse M … Tsukita S (The Journal of cell biology 1994) 3 4 23

Products for TJP1 Gene

  • Addgene plasmids for TJP1
  • Signalway ELISA kits for TJP1

Sources for TJP1 Gene