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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY ClinGen, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26543233
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 18162065
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 11369990
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 8825647
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy BEFREE 30354300
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Infectious Infective arthritis Pubtator 18364044 Inhibit
★☆☆☆☆
Found in Text Mining only
Asthma Asthma LHGDN 18418437
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 28901429 Stimulate
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 30243299 Associate
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary atresia Pubtator 34392560 Associate
★☆☆☆☆
Found in Text Mining only