InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PDZK1

Summary

InnateDB Protein

IDBP-101783.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PDZK1

Protein Name

PDZ domain containing 1

Synonyms

CAP70; CLAMP; NHERF-3; NHERF3; PDZD1;

Species

Homo sapiens

Ensembl Protein

ENSP00000342143

InnateDB Gene

IDBG-101779 (PDZK1)

Protein Structure

UniProt Annotation

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. 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 (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Associated with peripheral membranes. Localizes to the apical compartment of proximal tubular cells and to sinusoidal liver membranes (By similarity). {ECO:0000250}.

Disease Associations

Tissue Specificity

Expression is limited to epithelial cells. Expressed in the kidney (brush border of proximal tubule), pancreas, liver, and small intestine. Expressed at a lower level in the adrenal cortex, testis and stomach. Overexpressed in breast, renal and lung carcinomas. {ECO:0000269PubMed:10496535, ECO:0000269PubMed:11051556, ECO:0000269PubMed:9461128}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	36 [view]
Protein-Protein	35 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005515	protein binding
GO:0030165	PDZ domain binding

Biological Process

GO:0006810	transport
GO:0008283	cell proliferation
GO:0015879	carnitine transport
GO:0015893	drug transport
GO:0034767	positive regulation of ion transmembrane transport
GO:0044070	regulation of anion transport
GO:0090314	positive regulation of protein targeting to membrane