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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]
TJP1 (Tight Junction Protein 1) is a Protein Coding gene. Diseases associated with TJP1 include Nephrotic Syndrome, Type 1 and Celiac Disease 1. Among its related pathways are Vesicle-mediated transport and Signaling by Hippo. 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI,IEA | 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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002102 | podosome | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IDA | 11734628 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0005886 | plasma membrane | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways | ||
2 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
Sertoli-Sertoli Cell Junction Dynamics
.38
|
Epithelial Tight Junctions
.36
|
3 | Apoptotic cleavage of cellular proteins | ||
4 | Insulin receptor recycling | ||
5 | CDK-mediated phosphorylation and removal of Cdc6 |
.31
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007043 | cell-cell junction assembly | TAS | 8486731 |
GO:0007605 | sensory perception of sound | IEA | -- |
GO:0032496 | response to lipopolysaccharide | IEA | -- |
GO:0035329 | hippo signaling | TAS | -- |
GO:0042493 | response to drug | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | TJP1 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | TJP1 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
mouse (Mus musculus) |
Mammalia | Tjp1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Tjp1 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
cow (Bos Taurus) |
Mammalia | ZO1 33 |
|
OneToOne | |
TJP1 32 |
|
||||
chicken (Gallus gallus) |
Aves | TJP1 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | TJP1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | tjp1 32 |
|
||
Str.718 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.14146 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | tjp1a 33 32 |
|
OneToMany | |
tjp1b 33 |
|
OneToMany | |||
fruit fly (Drosophila melanogaster) |
Insecta | pyd 33 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | zoo-1 33 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany | |
Cin.1605 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.1605 32 |
|
SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000006477 | -- | 29,866,503(-) | A/T | genic_upstream_transcript_variant, intron_variant | |
rs1000014429 | -- | 29,805,764(-) | T/C | intron_variant | |
rs1000051309 | -- | 29,917,647(-) | G/A | genic_upstream_transcript_variant, intron_variant | |
rs1000052937 | -- | 29,745,196(-) | C/T | intron_variant | |
rs1000056857 | -- | 29,937,278(-) | C/T | genic_upstream_transcript_variant, intron_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrotic syndrome, type 1 |
|
|
celiac disease 1 |
|
|
inflammatory bowel disease |
|
|
macular degeneration, age-related, 1 |
|
|
acute vascular insufficiency of intestine |
|
|