PDZK1

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]

Description

PDZ domain containing 1

Tissue specificity

Tissue enriched (kidney)

Subcell location

Nucleoplasm, Vesicles, Cytosol

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (145670852 - 145708148)

Ensembl ID

ENSG00000174827  (ver. 103.38)

Orthologs

Mouse Pdzk1: ENSMUSG00000038298

UniProt

Q5T2W1

neXtProt

NX_Q5T2W1

Human splice variants
Mouse splice variants

Protein structure