PDZK1 (PDZ domain containing 1)

2003-02-01  

Identity

HGNC
LOCATION
1q21.1
LOCUSID
ALIAS
CAP70,CLAMP,NHERF-3,NHERF3,PDZD1
FUSION GENES

Other Information

Locus ID:

NCBI: 5174
MIM: 603831
HGNC: 8821
Ensembl: ENSG00000174827

Variants:

dbSNP: 5174
ClinVar: 5174
TCGA: ENSG00000174827
COSMIC: PDZK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174827ENST00000344770Q5T2W1
ENSG00000174827ENST00000417171Q5T2W1
ENSG00000174827ENST00000443667A0A0C4DG67
ENSG00000174827ENST00000451928Q5T2W1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
195035972009Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.228
208848462010Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.135
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
153045102004The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate-anion exchanger URAT1 via its C terminus.39
198903912009Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.34
198614892010Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms.33
160121702005Interactions with PDZ domain proteins PIST/GOPC and PDZK1 regulate intracellular sorting of the somatostatin receptor subtype 5.29
202371542010A regulated complex of the scaffolding proteins PDZK1 and EBP50 with ezrin contribute to microvillar organization.29
208555652010Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.27
159943322005Interaction with PDZK1 is required for expression of organic anion transporting protein 1A1 on the hepatocyte surface.23

Citation

Dessen P

PDZK1 (PDZ domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41687/pdzk1