Tbio PDZK1 Na(+)/H(+) exchange regulatory cofactor NHE-RF3

Protein Summary

Description

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). This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

Uniprot Accession IDs

• Q5T2W1
• B4DPB9
• E7EU02
• O60450
• Q5T5P6
• Q9BQ41
• NHERF-3

Gene Name

• PDZK1

Ensembl ID

• ENST00000344770
• ENSP00000342143
• ENSG00000174827
• ENST00000417171
• ENSP00000394485
• ENST00000451928
• ENSP00000403422

Symbol

• CAP70
• NHERF3
• PDZD1
• CAP70
• CLAMP
• PDZD1
• NHERF3
• NHERF-3

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
gene perturbation	1
PubMedID	0.92
small molecule perturbation	0.67
transcription factor	0.63
disease perturbation	0.62

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 102.21   (req: < 5)

Gene RIFs: 59   (req: <= 3)

Antibodies: 385   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 102.21   (req: >= 5)

Gene RIFs: 59   (req: > 3)

Antibodies: 385   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0