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PARD3

Domain

Contains a conserved N-terminal oligomerization domain (NTD) that is involved in oligomerization and is essential for proper subapical membrane localization.

The second PDZ domain mediates interaction with membranes containing phosphoinositol lipids.

Function

Adapter protein involved in asymmetrical cell division and cell polarization processes (PubMed:10954424, PubMed:27925688). Seems to play a central role in the formation of epithelial tight junctions (PubMed:27925688). Targets the phosphatase PTEN to cell junctions (By similarity). Involved in Schwann cell peripheral myelination (By similarity). Association with PARD6B may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly (By similarity). The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins (PubMed:10934474). Required for establishment of neuronal polarity and normal axon formation in cultured hippocampal neurons (PubMed:19812038, PubMed:27925688).

Involvement in disease

Neural tube defects

NTD

Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Post-translational modifications

Acetylated. Deacetylated by SIRT2, thereby inhibiting Schwann cell peripheral myelination.

Phosphorylation at Ser-827 by PRKCZ and PRKCI occurs at the most apical tip of epithelial cell-cell contacts during the initial phase of tight junction formation and may promote dissociation of the complex with PARD6. EGF-induced Tyr-1127 phosphorylation mediates dissociation from LIMK2 (By similarity). Phosphorylation by AURKA at Ser-962 is required for the normal establishment of neuronal polarity (PubMed:19812038).

Sequence Similarities

Belongs to the PAR3 family.

Tissue Specificity

Widely expressed.

Cellular localization

Alternative names

PAR3, PAR3A, PARD3, Partitioning defective 3 homolog, PAR-3, PARD-3, Atypical PKC isotype-specific-interacting protein, CTCL tumor antigen se2-5, PAR3-alpha, ASIP

swissprot:Q8TEW0 entrezGene:56288 omim:606745