UniProt functional annotation for Q8NI35



	UniProt functional annotation for Q8NI35

UniProt code: Q8NI35.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Scaffolding protein that facilitates the localization of proteins to the cell membrane (PubMed:11927608, PubMed:16678097, PubMed:22006950). Required for the correct formation of tight junctions and epithelial apico-basal polarity (PubMed:11927608, PubMed:16678097). Positively regulates epithelial cell microtubule elongation and cell migration, possibly via facilitating localization of PRKCI/aPKC and PAR3D/PAR3 at the leading edge of migrating cells (By similarity). Plays a role in the correct reorientation of the microtubule-organizing center during epithelial migration (By similarity). May regulate the surface expression and/or function of ASIC3 in sensory neurons (By similarity). May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950). {ECO:0000250|UniProtKB:E2QYC9, ECO:0000250|UniProtKB:Q63ZW7, ECO:0000269|PubMed:11927608, ECO:0000269|PubMed:16678097, ECO:0000269|PubMed:22006950}.

Subunit: Forms a ternary complex with PALS1, CRB1 and CRB3 (PubMed:11927608, PubMed:11964389). Component of a complex whose core is composed of ARHGAP17, AMOT, PALS1, INADL/PATJ and PARD3/PAR3 (PubMed:16678097). Forms a heterotrimeric complex composed of MMP5, LIN7B and PATJ; the N-terminal L27 domain of PALS1 interacts with the L27 domain of PATJ and the C-terminal L27 domain of PALS1 interacts with the L27 domain of LIN7B (By similarity). Component of a complex composed of CRB3, PALS1 and PATJ (By similarity). Interacts (via N- terminus) with PALS1/PALS (via PDZ domain) (PubMed:11927608, PubMed:12527193). Interacts with TJP3/ZO-3 and CLDN1/claudin-1 (PubMed:12021270). Interacts with ASIC3, KCNJ10, KCNJ15, GRIN2A, GRIN2B, GRIN2C, GRIN2D, NLGN2, HTR2A and SLC6A4 (By similarity). Interacts with MPP7 (PubMed:12021270). Directly interacts with HTR4 (By similarity). Interacts (via PDZ domain 8) with WWC1 (via the ADDV motif) (PubMed:18596123). Interacts with SLC6A4 (By similarity). Interacts (via C-terminus) with ARHGEF18 (PubMed:22006950). Interacts with NPHP1 (PubMed:19755384). Interacts with PARD3/PAR3 (By similarity). {ECO:0000250|UniProtKB:A0A5F4CJZ2, ECO:0000250|UniProtKB:E2QYC9, ECO:0000250|UniProtKB:Q63ZW7, ECO:0000269|PubMed:11927608, ECO:0000269|PubMed:11964389, ECO:0000269|PubMed:12021270, ECO:0000269|PubMed:12527193, ECO:0000269|PubMed:16678097, ECO:0000269|PubMed:18596123, ECO:0000269|PubMed:19755384, ECO:0000269|PubMed:22006950}.

Subcellular location: Cell junction, tight junction {ECO:0000269|PubMed:11927608, ECO:0000269|PubMed:11964389, ECO:0000269|PubMed:12021270, ECO:0000269|PubMed:19755384, ECO:0000269|PubMed:22006950}. Apical cell membrane {ECO:0000269|PubMed:11964389}; Peripheral membrane protein {ECO:0000269|PubMed:11964389}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:18596123}. Note=Localizes to the apical region at the start of epithelial cell polarization then locates to tight junctions as polarization is completed (PubMed:11964389). Localized in the paranodal region of myelinating Schwann cells (By similarity). Localized to the leading edge of the actin cortex of migrating epithelia cells (By similarity). {ECO:0000250|UniProtKB:E2QYC9, ECO:0000250|UniProtKB:Q63ZW7}.

Tissue specificity: Expressed in renal tubules (at protein level) (PubMed:19755384). Expressed in bladder, testis, ovary, small intestine, colon, heart, skeletal muscle, pancreas and cerebellum in the brain. {ECO:0000269|PubMed:11964389, ECO:0000269|PubMed:19755384, ECO:0000269|PubMed:9280290}.

Domain: The L27 domain (also called Maguk recruitment domain) is required for interaction with PALS1 and CRB3, and PALS1 localization to tight junctions. {ECO:0000269|PubMed:11927608}.

Domain: The PDZ domain 6 mediates interaction with the C-terminus of TJP3 and is crucial for localization to the tight junctions (PubMed:12021270). The PDZ domain 8 interacts with CLDN1 but is not required for proper localization (PubMed:12021270). {ECO:0000269|PubMed:12021270}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Scaffolding protein that facilitates the localization of proteins to the cell membrane (PubMed:11927608, PubMed:16678097, PubMed:22006950). Required for the correct formation of tight junctions and epithelial apico-basal polarity (PubMed:11927608, PubMed:16678097). Positively regulates epithelial cell microtubule elongation and cell migration, possibly via facilitating localization of PRKCI/aPKC and PAR3D/PAR3 at the leading edge of migrating cells (By similarity). Plays a role in the correct reorientation of the microtubule-organizing center during epithelial migration (By similarity). May regulate the surface expression and/or function of ASIC3 in sensory neurons (By similarity). May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950). {ECO:0000250\|UniProtKB:E2QYC9, ECO:0000250\|UniProtKB:Q63ZW7, ECO:0000269\|PubMed:11927608, ECO:0000269\|PubMed:16678097, ECO:0000269\|PubMed:22006950}.


Subunit:		Forms a ternary complex with PALS1, CRB1 and CRB3 (PubMed:11927608, PubMed:11964389). Component of a complex whose core is composed of ARHGAP17, AMOT, PALS1, INADL/PATJ and PARD3/PAR3 (PubMed:16678097). Forms a heterotrimeric complex composed of MMP5, LIN7B and PATJ; the N-terminal L27 domain of PALS1 interacts with the L27 domain of PATJ and the C-terminal L27 domain of PALS1 interacts with the L27 domain of LIN7B (By similarity). Component of a complex composed of CRB3, PALS1 and PATJ (By similarity). Interacts (via N- terminus) with PALS1/PALS (via PDZ domain) (PubMed:11927608, PubMed:12527193). Interacts with TJP3/ZO-3 and CLDN1/claudin-1 (PubMed:12021270). Interacts with ASIC3, KCNJ10, KCNJ15, GRIN2A, GRIN2B, GRIN2C, GRIN2D, NLGN2, HTR2A and SLC6A4 (By similarity). Interacts with MPP7 (PubMed:12021270). Directly interacts with HTR4 (By similarity). Interacts (via PDZ domain 8) with WWC1 (via the ADDV motif) (PubMed:18596123). Interacts with SLC6A4 (By similarity). Interacts (via C-terminus) with ARHGEF18 (PubMed:22006950). Interacts with NPHP1 (PubMed:19755384). Interacts with PARD3/PAR3 (By similarity). {ECO:0000250\|UniProtKB:A0A5F4CJZ2, ECO:0000250\|UniProtKB:E2QYC9, ECO:0000250\|UniProtKB:Q63ZW7, ECO:0000269\|PubMed:11927608, ECO:0000269\|PubMed:11964389, ECO:0000269\|PubMed:12021270, ECO:0000269\|PubMed:12527193, ECO:0000269\|PubMed:16678097, ECO:0000269\|PubMed:18596123, ECO:0000269\|PubMed:19755384, ECO:0000269\|PubMed:22006950}.
Subcellular location:		Cell junction, tight junction {ECO:0000269\|PubMed:11927608, ECO:0000269\|PubMed:11964389, ECO:0000269\|PubMed:12021270, ECO:0000269\|PubMed:19755384, ECO:0000269\|PubMed:22006950}. Apical cell membrane {ECO:0000269\|PubMed:11964389}; Peripheral membrane protein {ECO:0000269\|PubMed:11964389}. Cytoplasm, perinuclear region {ECO:0000269\|PubMed:18596123}. Note=Localizes to the apical region at the start of epithelial cell polarization then locates to tight junctions as polarization is completed (PubMed:11964389). Localized in the paranodal region of myelinating Schwann cells (By similarity). Localized to the leading edge of the actin cortex of migrating epithelia cells (By similarity). {ECO:0000250\|UniProtKB:E2QYC9, ECO:0000250\|UniProtKB:Q63ZW7}.
Tissue specificity:		Expressed in renal tubules (at protein level) (PubMed:19755384). Expressed in bladder, testis, ovary, small intestine, colon, heart, skeletal muscle, pancreas and cerebellum in the brain. {ECO:0000269\|PubMed:11964389, ECO:0000269\|PubMed:19755384, ECO:0000269\|PubMed:9280290}.
Domain:		The L27 domain (also called Maguk recruitment domain) is required for interaction with PALS1 and CRB3, and PALS1 localization to tight junctions. {ECO:0000269\|PubMed:11927608}.
Domain:		The PDZ domain 6 mediates interaction with the C-terminus of TJP3 and is crucial for localization to the tight junctions (PubMed:12021270). The PDZ domain 8 interacts with CLDN1 but is not required for proper localization (PubMed:12021270). {ECO:0000269\|PubMed:12021270}.