• Gene id: 7082

Gene Summary

• Gene Symbol: TJP1   Gene   UCSC   Ensembl
• Aliases: ZO-1
• Gene name: tight junction protein 1
• Alternate names: tight junction protein ZO-1, zona occludens 1, zonula occludens 1 protein,
• Gene location: 15q13.1 (29969048: 29699366)     Exons: 33     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 601009

Protein Summary

• Protein general information: Q07157  
  • Name: Tight junction protein ZO 1 (Tight junction protein 1) (Zona occludens protein 1) (Zonula occludens protein 1)
  • Length: 1748  
  • Mass: 195459
  • 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:

  MSARAAAAKSTAMEETAIWEQHTVTLHRAPGFGFGIAISGGRDNPHFQSGETSIVISDVLKGGPAEGQLQENDRV
  AMVNGVSMDNVEHAFAVQQLRKSGKNAKITIRRKKKVQIPVSRPDPEPVSDNEEDSYDEEIHDPRSGRSGVVNRR
  SEKIWPRDRSASRERSLSPRSDRRSVASSQPAKPTKVTLVKSRKNEEYGLRLASHIFVKEISQDSLAARDGNIQE
  GDVVLKINGTVTENMSLTDAKTLIERSKGKLKMVVQRDERATLLNVPDLSDSIHSANASERDDISEIQSLASDHS
  GRSHDRPPRRSRSRSPDQRSEPSDHSRHSPQQPSNGSLRSRDEERISKPGAVSTPVKHADDHTPKTVEEVTVERN
  EKQTPSLPEPKPVYAQVGQPDVDLPVSPSDGVLPNSTHEDGILRPSMKLVKFRKGDSVGLRLAGGNDVGIFVAGV
  LEDSPAAKEGLEEGDQILRVNNVDFTNIIREEAVLFLLDLPKGEEVTILAQKKKDVYRRIVESDVGDSFYIRTHF
  EYEKESPYGLSFNKGEVFRVVDTLYNGKLGSWLAIRIGKNHKEVERGIIPNKNRAEQLASVQYTLPKTAGGDRAD
  FWRFRGLRSSKRNLRKSREDLSAQPVQTKFPAYERVVLREAGFLRPVTIFGPIADVAREKLAREEPDIYQIAKSE
  PRDAGTDQRSSGIIRLHTIKQIIDQDKHALLDVTPNAVDRLNYAQWYPIVVFLNPDSKQGVKTMRMRLCPESRKS
  ARKLYERSHKLRKNNHHLFTTTINLNSMNDGWYGALKEAIQQQQNQLVWVSEGKADGATSDDLDLHDDRLSYLSA
  PGSEYSMYSTDSRHTSDYEDTDTEGGAYTDQELDETLNDEVGTPPESAITRSSEPVREDSSGMHHENQTYPPYSP
  QAQPQPIHRIDSPGFKPASQQKAEASSPVPYLSPETNPASSTSAVNHNVNLTNVRLEEPTPAPSTSYSPQADSLR
  TPSTEAAHIMLRDQEPSLSSHVDPTKVYRKDPYPEEMMRQNHVLKQPAVSHPGHRPDKEPNLTYEPQLPYVEKQA
  SRDLEQPTYRYESSSYTDQFSRNYEHRLRYEDRVPMYEEQWSYYDDKQPYPSRPPFDNQHSQDLDSRQHPEESSE
  RGYFPRFEEPAPLSYDSRPRYEQAPRASALRHEEQPAPGYDTHGRLRPEAQPHPSAGPKPAESKQYFEQYSRSYE
  QVPPQGFTSRAGHFEPLHGAAAVPPLIPSSQHKPEALPSNTKPLPPPPTQTEEEEDPAMKPQSVLTRVKMFENKR
  SASLETKKDVNDTGSFKPPEVASKPSGAPIIGPKPTSQNQFSEHDKTLYRIPEPQKPQLKPPEDIVRSNHYDPEE
  DEEYYRKQLSYFDRRSFENKPPAHIAASHLSEPAKPAHSQNQSNFSSYSSKGKPPEADGVDRSFGEKRYEPIQAT
  PPPPPLPSQYAQPSQPVTSASLHIHSKGAHGEGNSVSLDFQNSLVSKPDPPPSQNKPATFRPPNREDTAQAAFYP
  QKSFPDKAPVNGTEQTQKTVTPAYNRFTPKPYTSSARPFERKFESPKFNHNLLPSETAHKPDLSSKTPTSPKTLV
  KSHSLAQPPEFDSGVETFSIHAEKPKYQINNISTVPKAIPVSPSAVEEDEDEDGHTVVATARGIFNSNGGVLSSI
  ETGVSIIIPQGAIPEGVEQEIYFKVCRDNSILPPLDKEKGETLLSPLVMCGPHGLKFLKPVELRLPHCDPKTWQN
  KCLPGDPNYLVGANCVSVLIDHF

• Structural information:
  • Protein Domains: (23..11-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (186..26-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (421..50-)
    (/note="PDZ-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (-)
  • Interpro: IPR008145  IPR008144  IPR027417  IPR001478  IPR036034   IPR036028  IPR001452  IPR005417  IPR005418  IPR035597  IPR000906  
  • Prosite: PS50052 PS50106 PS50002 PS51145
  • CDD: cd12026
  • PDB: 2H2B 2H2C 2H3M 2JWE 2KXR 2KXS 2RCZ 3CYY 3LH5 3SHU 3SHW 3TSV 3TSW 3TSZ 4OEO 4OEP 4Q2Q 4YYX
  • PDBsum: 2H2B 2H2C 2H3M 2JWE 2KXR 2KXS 2RCZ 3CYY 3LH5 3SHU 3SHW 3TSV 3TSW 3TSZ 4OEO 4OEP 4Q2Q 4YYX
  • STRING: ENSP00000281537
• Other Databases: GeneCards:  TJP1  Malacards:  TJP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0070160	tight junction	IDA	cellular component
GO:0070160	tight junction	IDA	cellular component
GO:0070160	tight junction	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000049	positive regulation of cell-cell adhesion mediated by cadherin	IMP	biological process
GO:0045216	cell-cell junction organization	IMP	biological process
GO:2000250	negative regulation of actin cytoskeleton reorganization	IMP	biological process
GO:1905605	positive regulation of blood-brain barrier permeability	IMP	biological process
GO:2000810	regulation of bicellular tight junction assembly	IMP	biological process
GO:0150105	protein localization to cell-cell junction	IMP	biological process
GO:1901888	regulation of cell junction assembly	IMP	biological process
GO:0070160	tight junction	IMP	cellular component
GO:0035633	maintenance of blood-brain barrier	NAS	biological process
GO:1903672	positive regulation of sprouting angiogenesis	IMP	biological process
GO:1902396	protein localization to bicellular tight junction	IMP	biological process
GO:0051493	regulation of cytoskeleton organization	IMP	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0031032	actomyosin structure organization	IMP	biological process
GO:0051497	negative regulation of stress fiber assembly	ISS	biological process
GO:0034334	adherens junction maintenance	IMP	biological process
GO:0071896	protein localization to adherens junction	IMP	biological process
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005921	gap junction	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007043	cell-cell junction assembly	TAS	biological process
GO:0005912	adherens junction	TAS	cellular component
GO:0005923	bicellular tight junction	TAS	cellular component
GO:0043296	apical junction complex	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0045177	apical part of cell	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:2000810	regulation of bicellular tight junction assembly	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0030054	cell junction	TAS	cellular component
GO:0035329	hippo signaling	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0002102	podosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090557	establishment of endothelial intestinal barrier	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05130	Pathogenic Escherichia coli infection
hsa04530	Tight junction
hsa04540	Gap junction
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa04520	Adherens junction
hsa05110	Vibrio cholerae infection

Diseases

Associated diseases	References
bile duct cancer	PMID:19184677
gallbladder carcinoma	PMID:19184677
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray