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This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008]
PATJ (PATJ Crumbs Cell Polarity Complex Component) is a Protein Coding gene. Diseases associated with PATJ include Intraorbital Meningioma and Retinitis Pigmentosa 12. Among its related pathways are Hippo signaling pathway and PI3K-Akt signaling pathway. An important paralog of this gene is MPDZ.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 11927608 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005923 | bicellular tight junction | IEA,IDA | 22006950 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell junction organization | ||
2 | Hippo signaling pathway | ||
3 | PI3K-Akt signaling pathway | ||
4 | Tight junction | ||
5 | Sertoli-Sertoli Cell Junction Dynamics |
Epithelial Tight Junctions
.36
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0035089 | establishment of apical/basal cell polarity | ISS | -- |
GO:0035556 | intracellular signal transduction | NAS | 9280290 |
GO:0070830 | bicellular tight junction assembly | TAS | -- |
GO:0120192 | tight junction assembly | ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | INADL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | INADL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | INADL 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Inadl 30 31 |
|
OneToOne | |
Patj 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Inadl 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | INADL 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | INADL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | INADL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | INADL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | inadl 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | inadl 30 31 |
|
OneToOne | |
Dr.20603 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1952 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Patj 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | mpz-1 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
CSA.5918 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs112548443 | Benign: not provided | 61,864,321(+) |
A/G NM_176877.4(PATJ):c.2523A>G (p.Gln841=) |
SYNONYMOUS | |
rs115241683 | Benign: not provided | 61,787,929(+) |
T/C NM_176877.4(PATJ):c.1025T>C (p.Leu342Ser) |
MISSENSE | |
rs116544267 | Benign: not provided | 61,861,632(+) |
G/C NM_176877.4(PATJ):c.2404G>C (p.Asp802His) |
MISSENSE | |
rs187417242 | Benign: not provided | 62,128,864(+) |
T/A NM_176877.4(PATJ):c.5190T>A (p.Ile1730=) |
SYNONYMOUS | |
rs201514515 | Likely Benign: not provided | 62,114,085(+) |
C/T NM_176877.4(PATJ):c.4494C>T (p.His1498=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
intraorbital meningioma |
|
|
retinitis pigmentosa 12 |
|
|
wilson-turner x-linked mental retardation syndrome |
|
|
meckel syndrome, type 1 |
|
|
leber plus disease |
|
|