Human Gene TJP1 (ENST00000346128.10) from GENCODE V44
  Description: Homo sapiens tight junction protein 1 (TJP1), transcript variant 1, mRNA. (from RefSeq NM_003257)
RefSeq Summary (NM_003257): 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].
Gencode Transcript: ENST00000346128.10
Gencode Gene: ENSG00000104067.17
Transcript (Including UTRs)
   Position: hg38 chr15:29,699,367-29,822,503 Size: 123,137 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg38 chr15:29,701,595-29,822,028 Size: 120,434 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:29,699,367-29,822,503)mRNA (may differ from genome)Protein (1748 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZO1_HUMAN
DESCRIPTION: RecName: Full=Tight junction protein ZO-1; AltName: Full=Tight junction protein 1; AltName: Full=Zona occludens protein 1; AltName: Full=Zonula occludens protein 1;
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.
SUBUNIT: Interacts with BVES (via the C-terminus cytoplasmic tail). Interacts with HSPA4 and KIRREL1 (By similarity). Homodimer, and heterodimer with TJP2/ZO-2 and TJP3/ZO-3. Interacts with OCLN, CALM, claudins, CGN/cingulin, CXADR, GJA12, GJD3 and UBN1. Interacts (via ZU5 domain) with CDC42BPB and MYZAP. Interacts (via PDZ domain) with GJA1.
INTERACTION: O43707:ACTN4; NbExp=4; IntAct=EBI-79553, EBI-351526; Q8N144:GJD3; NbExp=2; IntAct=EBI-79553, EBI-2629520;
SUBCELLULAR LOCATION: 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.
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.
DOMAIN: The second PDZ domain mediates interaction with GJA12 (By similarity).
PTM: Phosphorylated. Dephosphorylated by PTPRJ.
SIMILARITY: Belongs to the MAGUK family.
SIMILARITY: Contains 1 guanylate kinase-like domain.
SIMILARITY: Contains 3 PDZ (DHR) domains.
SIMILARITY: Contains 1 SH3 domain.
SIMILARITY: Contains 1 ZU5 domain.
SEQUENCE CAUTION: Sequence=AAA02891.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tjp1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TJP1
Diseases sorted by gene-association score: celiac disease (4), congenital nephrotic syndrome finnish type (2), vitreous disease (1), macular degeneration, age-related, 1 (1), night blindness, congenital stationary , 1a, x-linked (1), sciatic neuropathy (1), acute vascular insufficiency of intestine (1), usher syndrome, type 1c (1), deafness, autosomal recessive 49 (1), chandler syndrome (1), testis seminoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.77 RPKM in Nerve - Tibial
Total median expression: 647.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -273.00475-0.575 Picture PostScript Text
3' UTR -536.802228-0.241 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008144 - Guanylate_kin
IPR008145 - Guanylate_kin/L-typ_Ca_channel
IPR001478 - PDZ
IPR011511 - SH3_2
IPR001452 - SH3_domain
IPR005417 - ZonOcculdens
IPR005418 - ZonOcculS1
IPR000906 - ZU5

Pfam Domains:
PF00625 - Guanylate kinase
PF00595 - PDZ domain (Also known as DHR or GLGF)
PF07653 - Variant SH3 domain
PF00791 - ZU5 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2H2B - X-ray MuPIT 2H2C - X-ray MuPIT 2H3M - X-ray MuPIT 2JWE - NMR MuPIT 2KXR - NMR MuPIT 2KXS - NMR MuPIT 2RCZ - X-ray MuPIT 3CYY - X-ray MuPIT 3LH5 - X-ray 3SHU - X-ray MuPIT 3SHW - X-ray MuPIT 3TSV - X-ray MuPIT 3TSW - X-ray MuPIT 3TSZ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q07157
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0045296 cadherin binding

Biological Process:
GO:0007043 cell-cell junction assembly
GO:0035329 hippo signaling
GO:0090557 establishment of endothelial intestinal barrier
GO:1901350 cell-cell signaling involved in cell-cell junction organization
GO:2000810 regulation of bicellular tight junction assembly

Cellular Component:
GO:0002102 podosome
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005913 cell-cell adherens junction
GO:0005921 gap junction
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0030054 cell junction
GO:0042995 cell projection
GO:0043296 apical junction complex
GO:0045177 apical part of cell


-  Descriptions from all associated GenBank mRNAs
  L14837 - Human tight junction (zonula occludens) protein ZO-1 mRNA, complete cds.
BX640879 - Homo sapiens mRNA; cDNA DKFZp686A1195 (from clone DKFZp686A1195).
CR749235 - Homo sapiens mRNA; cDNA DKFZp686M05161 (from clone DKFZp686M05161).
AB370197 - Homo sapiens TJP1 mRNA for tight junction protein ZO-1, partial cds.
BC111712 - Homo sapiens tight junction protein 1 (zona occludens 1), mRNA (cDNA clone MGC:133289 IMAGE:40037646), complete cds.
AK304758 - Homo sapiens cDNA FLJ61639 complete cds, highly similar to Tight junction protein ZO-1.
EU831947 - Synthetic construct Homo sapiens clone HAIB:100066976; DKFZo008D1223 tight junction protein 1 (zona occludens 1) protein (TJP1) gene, encodes complete protein.
EU832042 - Synthetic construct Homo sapiens clone HAIB:100067071; DKFZo004D1224 tight junction protein 1 (zona occludens 1) protein (TJP1) gene, encodes complete protein.
AB384676 - Synthetic construct DNA, clone: pF1KB0048, Homo sapiens TJP1 gene for tight junction protein ZO-1, complete cds, without stop codon, in Flexi system.
AF035298 - Homo sapiens clone 23650 mRNA sequence.
JD289457 - Sequence 270481 from Patent EP1572962.
JD295617 - Sequence 276641 from Patent EP1572962.
JD231985 - Sequence 213009 from Patent EP1572962.
JD087779 - Sequence 68803 from Patent EP1572962.
JD233506 - Sequence 214530 from Patent EP1572962.
JD337900 - Sequence 318924 from Patent EP1572962.
JD239854 - Sequence 220878 from Patent EP1572962.
JD184283 - Sequence 165307 from Patent EP1572962.
AK302971 - Homo sapiens cDNA FLJ50931 complete cds, highly similar to Tight junction protein ZO-1.
JD141207 - Sequence 122231 from Patent EP1572962.
AK308113 - Homo sapiens cDNA, FLJ98061.
BC036090 - Homo sapiens cDNA clone IMAGE:5298040, containing frame-shift errors.
JD138732 - Sequence 119756 from Patent EP1572962.
JD296655 - Sequence 277679 from Patent EP1572962.
JD338817 - Sequence 319841 from Patent EP1572962.
JD173435 - Sequence 154459 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04520 - Adherens junction
hsa04530 - Tight junction
hsa04540 - Gap junction
hsa05110 - Vibrio cholerae infection
hsa05120 - Epithelial cell signaling in Helicobacter pylori infection

Reactome (by CSHL, EBI, and GO)

Protein Q07157 (Reactome details) participates in the following event(s):

R-HSA-190541 Association of Cx43 with TJP1
R-HSA-2064417 WWTR1 (TAZ) binds ZO-1 (TJP1)
R-HSA-351913 Caspase-mediated cleavage of TJP1
R-HSA-191636 Phosphorylation of Cx43 by c-src
R-HSA-191654 c-src associates with Cx43 in gap junctions
R-HSA-191647 c-src mediated regulation of Cx43 function and closure of gap junctions
R-HSA-2028269 Signaling by Hippo
R-HSA-351906 Apoptotic cleavage of cell adhesion proteins
R-HSA-8935964 RUNX1 regulates expression of components of tight junctions
R-HSA-191650 Regulation of gap junction activity
R-HSA-162582 Signal Transduction
R-HSA-111465 Apoptotic cleavage of cellular proteins
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-157858 Gap junction trafficking and regulation
R-HSA-75153 Apoptotic execution phase
R-HSA-212436 Generic Transcription Pathway
R-HSA-199991 Membrane Trafficking
R-HSA-109581 Apoptosis
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-5653656 Vesicle-mediated transport
R-HSA-5357801 Programmed Cell Death
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B4E3K1, ENST00000346128.1, ENST00000346128.2, ENST00000346128.3, ENST00000346128.4, ENST00000346128.5, ENST00000346128.6, ENST00000346128.7, ENST00000346128.8, ENST00000346128.9, NM_003257, Q07157, Q2NKP3, Q4ZGJ6, uc001zcr.1, uc001zcr.2, uc001zcr.3, uc001zcr.4, ZO1, ZO1_HUMAN
UCSC ID: ENST00000346128.10
RefSeq Accession: NM_003257
Protein: Q07157 (aka ZO1_HUMAN)
CCDS: CCDS42007.1, CCDS45199.1, CCDS81858.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.