UniProt functional annotation for Q9JIL4



	UniProt functional annotation for Q9JIL4

UniProt code: Q9JIL4.

Organism: Mus musculus (Mouse).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus.

Function: A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resistance through its interaction with ABCC2 and PDZK1IP1. May potentiate the CFTR chloride channel activity (By similarity). Required for normal cell-surface expression of SCARB1. Plays a role in maintaining normal plasma cholesterol levels via its effects on SCARB1. Plays a role in the normal localization and function of the chloride- anion exchanger SLC26A6 to the plasma membrane in the brush border of the proximal tubule of the kidney. May be involved in the regulation of proximal tubular Na(+)-dependent inorganic phosphate cotransport therefore playing an important role in tubule function. {ECO:0000250, ECO:0000269|PubMed:11051556, ECO:0000269|PubMed:12556478, ECO:0000269|PubMed:14531806, ECO:0000269|PubMed:15523054, ECO:0000269|PubMed:16141316, ECO:0000269|PubMed:20739281, ECO:0000269|PubMed:21602281}.

Subunit: Interacts with PDZK1IP1 and ABCC2. Binds to the C-terminal region of SLC26A3. Interacts (via C-terminal PDZ domain) with SLC26A6 (via C-terminal domain). Interacts (via C-terminal PDZ domain) with SLC9A3 (via C-terminal domain) (By similarity). Component of a complex, composed of PDZK1, SYNGAP1, KLHL17 and NMDA receptors. Interacts (via PDZ1 domain) directly with KLHL17; the interaction is important for integrity of actin cytoskeleton structures in neurons (By similarity). Forms a heterodimeric complex with SLC9A3R1. Interacts with AKAP2, BCR, CFTR, SLCO1A1, SLC22A12, SLC22A4, SLC22A5, SLC26A6, SLC9A3R2 and SLC17A1. Interacts (via the first PDZ domain) with PTGIR (via non- isoprenylated C-terminus). Interacts (via PDZ domains 1 and 3) with SCARB1 (C-terminal domain). {ECO:0000250, ECO:0000269|PubMed:11051556, ECO:0000269|PubMed:11099500, ECO:0000269|PubMed:14531806, ECO:0000269|PubMed:15523054, ECO:0000269|PubMed:20739281, ECO:0000269|PubMed:21602281, ECO:0000269|PubMed:23457445}.

Subcellular location: Membrane; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9JJ40}. Cell membrane {ECO:0000269|PubMed:11051556, ECO:0000269|PubMed:16141316}. Note=Localized in the brush border membrane of renal proximal tubule cells (PubMed:11051556, PubMed:16141316). Associated with peripheral membranes (By similarity). Localizes to the apical compartment of proximal cells and to sinusoidal liver membranes (By similarity). {ECO:0000250|UniProtKB:Q9JJ40, ECO:0000269|PubMed:11051556, ECO:0000269|PubMed:16141316}.

Tissue specificity: Expressed in kidney, liver, small intestine. brain, lung, and testis (at protein level). {ECO:0000269|PubMed:11051556, ECO:0000269|PubMed:12556478}.

Domain: The PDZ 2 and 3 domains seem to be involved in the interaction with SLC26A3. {ECO:0000250}.

Domain: Interaction with the C-terminus of CFTR could be mediated through independent binding of PDZ 1, 3 and 4 domains.

Domain: The PDZ 1 and 3 domains seem to be involved in the interaction with SLCO1A1. {ECO:0000250}.

Domain: The PDZ 1 domain interacts with BCR. {ECO:0000250}.

Domain: The PDZ 2 and 4 domains do not interact with the C-terminal region of SCARB1.

Miscellaneous: Disruption of the gene was not associated with abnormal growth and development or redistribution of interacting proteins. However, a modulation of expression of selective ion channels in the kidney, as well as increased serum cholesterol levels were observed.

Similarity: Belongs to the NHER family. {ECO:0000305}.

Sequence caution: Sequence=AAL84634.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC26605.1; Type=Frameshift; Note=The frameshift causes a read through of the stop codon.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Mus musculus (Mouse).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus.



Function:		A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resistance through its interaction with ABCC2 and PDZK1IP1. May potentiate the CFTR chloride channel activity (By similarity). Required for normal cell-surface expression of SCARB1. Plays a role in maintaining normal plasma cholesterol levels via its effects on SCARB1. Plays a role in the normal localization and function of the chloride- anion exchanger SLC26A6 to the plasma membrane in the brush border of the proximal tubule of the kidney. May be involved in the regulation of proximal tubular Na(+)-dependent inorganic phosphate cotransport therefore playing an important role in tubule function. {ECO:0000250, ECO:0000269\|PubMed:11051556, ECO:0000269\|PubMed:12556478, ECO:0000269\|PubMed:14531806, ECO:0000269\|PubMed:15523054, ECO:0000269\|PubMed:16141316, ECO:0000269\|PubMed:20739281, ECO:0000269\|PubMed:21602281}.


Subunit:		Interacts with PDZK1IP1 and ABCC2. Binds to the C-terminal region of SLC26A3. Interacts (via C-terminal PDZ domain) with SLC26A6 (via C-terminal domain). Interacts (via C-terminal PDZ domain) with SLC9A3 (via C-terminal domain) (By similarity). Component of a complex, composed of PDZK1, SYNGAP1, KLHL17 and NMDA receptors. Interacts (via PDZ1 domain) directly with KLHL17; the interaction is important for integrity of actin cytoskeleton structures in neurons (By similarity). Forms a heterodimeric complex with SLC9A3R1. Interacts with AKAP2, BCR, CFTR, SLCO1A1, SLC22A12, SLC22A4, SLC22A5, SLC26A6, SLC9A3R2 and SLC17A1. Interacts (via the first PDZ domain) with PTGIR (via non- isoprenylated C-terminus). Interacts (via PDZ domains 1 and 3) with SCARB1 (C-terminal domain). {ECO:0000250, ECO:0000269\|PubMed:11051556, ECO:0000269\|PubMed:11099500, ECO:0000269\|PubMed:14531806, ECO:0000269\|PubMed:15523054, ECO:0000269\|PubMed:20739281, ECO:0000269\|PubMed:21602281, ECO:0000269\|PubMed:23457445}.
Subcellular location:		Membrane; Peripheral membrane protein {ECO:0000250\|UniProtKB:Q9JJ40}. Cell membrane {ECO:0000269\|PubMed:11051556, ECO:0000269\|PubMed:16141316}. Note=Localized in the brush border membrane of renal proximal tubule cells (PubMed:11051556, PubMed:16141316). Associated with peripheral membranes (By similarity). Localizes to the apical compartment of proximal cells and to sinusoidal liver membranes (By similarity). {ECO:0000250\|UniProtKB:Q9JJ40, ECO:0000269\|PubMed:11051556, ECO:0000269\|PubMed:16141316}.
Tissue specificity:		Expressed in kidney, liver, small intestine. brain, lung, and testis (at protein level). {ECO:0000269\|PubMed:11051556, ECO:0000269\|PubMed:12556478}.
Domain:		The PDZ 2 and 3 domains seem to be involved in the interaction with SLC26A3. {ECO:0000250}.
Domain:		Interaction with the C-terminus of CFTR could be mediated through independent binding of PDZ 1, 3 and 4 domains.
Domain:		The PDZ 1 and 3 domains seem to be involved in the interaction with SLCO1A1. {ECO:0000250}.
Domain:		The PDZ 1 domain interacts with BCR. {ECO:0000250}.
Domain:		The PDZ 2 and 4 domains do not interact with the C-terminal region of SCARB1.
Miscellaneous:		Disruption of the gene was not associated with abnormal growth and development or redistribution of interacting proteins. However, a modulation of expression of selective ion channels in the kidney, as well as increased serum cholesterol levels were observed.
Similarity:		Belongs to the NHER family. {ECO:0000305}.
Sequence caution:		Sequence=AAL84634.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC26605.1; Type=Frameshift; Note=The frameshift causes a read through of the stop codon.; Evidence={ECO:0000305};