PDZK1

GENE INFORMATION

? »

Gene name

PDZK1 (HGNC Symbol)

Synonyms

NHERF3, PDZD1

Description

PDZ domain containing 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

1

Cytoband

q21.1

Chromosome location (bp)

145670852 - 145708148

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000174827 (version 78.38)

Entrez gene

5174

UniProt

Q5T2W1 (UniProt - Evidence at protein level)

neXtProt

NX_Q5T2W1

Antibodypedia

PDZK1 antibodies
 

PROTEIN VIEW

? »
 
 
 
PDZK1-001
 
PDZK1-002
 
PDZK1-201
 
PDZK1-202
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PDZK1-001 ENSP00000342143
ENST00000344770
Q5T2W1
Show all »
Show » Show » 519 57.1 No 0
PDZK1-002 ENSP00000409291
ENST00000443667
Q5T2W1
Show all »
Show » Show » 264 29.6 No 0
PDZK1-201 ENSP00000394485
ENST00000417171
Q5T2W1
Show all »
Show » Show » 519 57.1 No 0
PDZK1-202 ENSP00000403422
ENST00000451928
Q5T2W1
Show all »
Show » Show » 408 44.7 No 0