Gene Gene information from NCBI Gene database.
Entrez ID 7082
Gene name Tight junction protein 1
Gene symbol TJP1
Synonyms (NCBI Gene)
ZO-1
Chromosome 15
Chromosome location 15q13.1
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 betwee
miRNA miRNA information provided by mirtarbase database.
441
miRTarBase ID miRNA Experiments Reference
MIRT004341 hsa-miR-212-3p Western blot 18162065
MIRT004341 hsa-miR-212-3p Luciferase reporter assay 18162065
MIRT020884 hsa-miR-155-5p Proteomics 18668040
MIRT051942 hsa-let-7b-5p CLASH 23622248
MIRT050793 hsa-miR-17-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
AR Activation 18535113
HDAC1 Repression 20580679
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
GO ID Ontology Definition Evidence Reference
GO:0002102 Component Podosome IEA
GO:0005515 Function Protein binding IPI 9707407, 11042084, 11734628, 12023291, 12154091, 16944923, 17015620, 17724469, 18823282, 19332538, 20164257, 20850437, 21402783, 22262837, 23885123, 25753039, 28661558, 29366904, 30992345, 31473225, 33961781
GO:0005516 Function Calmodulin binding IEA
GO:0005737 Component Cytoplasm IDA 11734628
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601009 11827 ENSG00000104067
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q07157
Protein name Tight junction protein 1 (Tight junction protein ZO-1) (Zona occludens protein 1) (Zonula occludens protein 1)
Protein 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). Forms a
PDB 2H2B , 2H2C , 2H3M , 2JWE , 2KXR , 2KXS , 2RCZ , 3CYY , 3LH5 , 3SHU , 3SHW , 3TSV , 3TSW , 3TSZ , 4OEO , 4OEP , 4Q2Q , 4YYX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 23 107 PDZ domain Domain
PF00595 PDZ 186 261 PDZ domain Domain
PF00595 PDZ 422 501 PDZ domain Domain
PF07653 SH3_2 520 582 Variant SH3 domain Domain
PF00625 Guanylate_kin 681 793 Guanylate kinase Domain
PF00791 ZU5 1635 1727 ZU5 domain Family
Tissue specificity 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 tubu
Sequence
MSARAAAAKSTAMEETAIWEQHTVTLHRAPGFGFGIAISGGRDNPHFQSGETSIVISDVL
KGGPAEGQLQENDRVAMVNGVSMDNVEHAFAVQQLRKSGKNAKITIR
RKKKVQIPVSRPD
PEPVSDNEEDSYDEEIHDPRSGRSGVVNRRSEKIWPRDRSASRERSLSPRSDRRSVASSQ
PAKPTKVTLVKSRKNEEYGLRLASHIFVKEISQDSLAARDGNIQEGDVVLKINGTVTENM
SLTDAKTLIERSKGKLKMVVQ
RDERATLLNVPDLSDSIHSANASERDDISEIQSLASDHS
GRSHDRPPRRSRSRSPDQRSEPSDHSRHSPQQPSNGSLRSRDEERISKPGAVSTPVKHAD
DHTPKTVEEVTVERNEKQTPSLPEPKPVYAQVGQPDVDLPVSPSDGVLPNSTHEDGILRP
SMKLVKFRKGDSVGLRLAGGNDVGIFVAGVLEDSPAAKEGLEEGDQILRVNNVDFTNIIR
EEAVLFLLDLPKGEEVTILAQ
KKKDVYRRIVESDVGDSFYIRTHFEYEKESPYGLSFNKG
EVFRVVDTLYNGKLGSWLAIRIGKNHKEVERGIIPNKNRAEQ
LASVQYTLPKTAGGDRAD
FWRFRGLRSSKRNLRKSREDLSAQPVQTKFPAYERVVLREAGFLRPVTIFGPIADVAREK
LAREEPDIYQIAKSEPRDAGTDQRSSGIIRLHTIKQIIDQDKHALLDVTPNAVDRLNYAQ
WYPIVVFLNPDSKQGVKTMRMRLCPESRKSARKLYERSHKLRKNNHHLFTTTINLNSMND
GWYGALKEAIQQQ
QNQLVWVSEGKADGATSDDLDLHDDRLSYLSAPGSEYSMYSTDSRHT
SDYEDTDTEGGAYTDQELDETLNDEVGTPPESAITRSSEPVREDSSGMHHENQTYPPYSP
QAQPQPIHRIDSPGFKPASQQKAEASSPVPYLSPETNPASSTSAVNHNVNLTNVRLEEPT
PAPSTSYSPQADSLRTPSTEAAHIMLRDQEPSLSSHVDPTKVYRKDPYPEEMMRQNHVLK
QPAVSHPGHRPDKEPNLTYEPQLPYVEKQASRDLEQPTYRYESSSYTDQFSRNYEHRLRY
EDRVPMYEEQWSYYDDKQPYPSRPPFDNQHSQDLDSRQHPEESSERGYFPRFEEPAPLSY
DSRPRYEQAPRASALRHEEQPAPGYDTHGRLRPEAQPHPSAGPKPAESKQYFEQYSRSYE
QVPPQGFTSRAGHFEPLHGAAAVPPLIPSSQHKPEALPSNTKPLPPPPTQTEEEEDPAMK
PQSVLTRVKMFENKRSASLETKKDVNDTGSFKPPEVASKPSGAPIIGPKPTSQNQFSEHD
KTLYRIPEPQKPQLKPPEDIVRSNHYDPEEDEEYYRKQLSYFDRRSFENKPPAHIAASHL
SEPAKPAHSQNQSNFSSYSSKGKPPEADGVDRSFGEKRYEPIQATPPPPPLPSQYAQPSQ
PVTSASLHIHSKGAHGEGNSVSLDFQNSLVSKPDPPPSQNKPATFRPPNREDTAQAAFYP
QKSFPDKAPVNGTEQTQKTVTPAYNRFTPKPYTSSARPFERKFESPKFNHNLLPSETAHK
PDLSSKTPTSPKTLVKSHSLAQPPEFDSGVETFSIHAEKPKYQINNISTVPKAIPVSPSA
VEEDEDEDGHTVVATARGIFNSNGGVLSSIETGVSIIIPQGAIPEGVEQEIYFKVCRDNS
ILPPLDKEKGETLLSPLVMCGPHGLKFLKPVELRLPHCDPKTWQNKC
LPGDPNYLVGANC
VSVLIDHF
Sequence length 1748
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Adherens junction
Tight junction
Gap junction
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
  Regulation of gap junction activity
Signaling by Hippo
Apoptotic cleavage of cell adhesion proteins
RUNX1 regulates expression of components of tight junctions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
50
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Likely benign rs147136553 RCV005929330
Colon adenocarcinoma Likely benign rs147136553 RCV005929326
Familial cancer of breast Likely benign rs147136553 RCV005929325
Gastric cancer Likely benign rs147136553 RCV005929331
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Associate 36768287
Acute Kidney Injury Inhibit 24884882
Adenocarcinoma of Lung Inhibit 37240145
Adenocarcinoma of Lung Associate 38509005
Arthritis Infectious Inhibit 18364044
Atherosclerosis Stimulate 28901429
Azoospermia Associate 30243299
Bell Palsy Associate 15090575
Biliary Atresia Associate 34392560
Bloom Syndrome Associate 36293204