PDZK1, Official Symbol PDZK1provided by HGNC Official Full Name PDZ domain containing 1provided by HGNC Primary source HGNC:HGNC:8821 See related Ensembl:ENSG00000174827 MIM:603831; AllianceGenome:HGNC:8821 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CAP70; CLAMP; PDZD1; NHERF3; NHERF-3 Summary 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] Expression Biased expression in kidney (RPKM 203.4), small intestine (RPKM 48.1) and 3 other tissues See more Orthologs mouse all