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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PDZK1
PDZ domain containing 1
Chromosome 1 · 1q21.1
NCBI Gene: 5174Ensembl: ENSG00000174827.15HGNC: HGNC:8821UniProt: B2R7S7
127PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
PDZ domain bindingidentical protein bindingcarnitine transmembrane transportpositive regulation of protein localization to membranegouthyperuricemianeurodegenerative diseasehepatocellular carcinoma
✦AI Summary

PDZK1 is a multi-domain scaffold protein that plays crucial roles in membrane protein regulation and cellular homeostasis across diverse tissues. As a scaffold protein, PDZK1 connects plasma membrane proteins to regulatory components, particularly in epithelial cell apical domains 1. The protein regulates multiple transporters including urate transporters, where it promotes ABCG2 localization to brush border membranes to facilitate intestinal urate excretion 1. PDZK1 variants show significant association with gout susceptibility in Japanese populations, likely through regulation of urate transporter functions 2. In HDL metabolism, PDZK1 is essential for maintaining hepatic SR-BI receptor levels and controlling HDL cholesterol homeostasis, with all four PDZ domains required for normal SR-BI expression and function 34. Beyond metabolic functions, PDZK1 exhibits protective roles against cellular senescence through mitochondrial function regulation, particularly in chondrocytes where it prevents mechanical overload-induced osteoarthritis by targeting the Hmgcs2 pathway 5. In retinal pigment epithelium, PDZK1 protects against diabetic retinopathy by regulating the 14-3-3ε-mTOR axis to reduce oxidative stress and enhance autophagy 6. Additionally, PDZK1 functions as a tumor suppressor in triple-negative breast cancer by promoting EGFR degradation and sensitizing cells to erlotinib treatment 7.

Sources cited
1
PDZK1 promotes ABCG2 localization to brush border membranes for intestinal urate excretion
PMID: 38412863
2
PDZK1 variants are significantly associated with gout susceptibility in Japanese populations
PMID: 27720648
3
All four PDZ domains of PDZK1 are necessary for normal hepatic SR-BI expression and function
PMID: 19421056
4
PDZK1 plays key roles in HDL metabolism and protection against atherosclerosis
PMID: 28134663
5
PDZK1 protects against mechanical overload-induced chondrocyte senescence and osteoarthritis through mitochondrial function
PMID: 39019845
6
PDZK1 protects against RPE senescence by targeting the 14-3-3ε-mTOR axis in diabetic retinopathy
PMID: 40853330
7
PDZK1 suppresses TNBC development and sensitizes cells to erlotinib via EGFR pathway regulation
PMID: 38604999
Disease Associationsⓘ20
goutOpen Targets
0.54Moderate
hyperuricemiaOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.27Weak
hepatocellular carcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
hypertriglyceridemia 2Open Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
microphthalmia with limb anomaliesOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
familial hypercholesterolemiaOpen Targets
0.07Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.07Suggestive
sitosterolemia 2Open Targets
0.06Suggestive
Combined hyperlipidemiaOpen Targets
0.06Suggestive
Barrett's esophagusOpen Targets
0.06Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.06Suggestive
hypercholesterolemia, autosomal dominant, 3Open Targets
0.05Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.05Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.05Suggestive
hypercholesterolemia, autosomal dominant, type BOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CFTRProtein interaction97%SLC26A3Protein interaction97%NHERF1Protein interaction97%PDZK1IP1Protein interaction97%TJP1Protein interaction96%PRKAR2AProtein interaction96%
Tissue Expression6 tissues
Liver
100%
Brain
1%
Bone Marrow
1%
Ovary
1%
Lung
1%
Heart
0%
Gene Interaction Network
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PDZK1CFTRSLC26A3NHERF1PDZK1IP1TJP1PRKAR2A
PROTEIN STRUCTURE
Preparing viewer…
PDB6EZI · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.39LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.95 [0.66–1.39]
RankingsWhere PDZK1 stands among ~20K protein-coding genes
  • #3,697of 20,598
    Most Researched127 · top quartile
  • #14,426of 17,882
    Most Constrained (LOEUF)1.39
Genes detectedPDZK1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Alistipes indistinctus-derived hippuric acid promotes intestinal urate excretion to alleviate hyperuricemia.
PMID: 38412863
Cell Host Microbe · 2024
1.00
2
PDZK1 protects against mechanical overload-induced chondrocyte senescence and osteoarthritis by targeting mitochondrial function.
PMID: 39019845
Bone Res · 2024
0.90
3
The pathogenesis of gout: molecular insights from genetic, epigenomic and transcriptomic studies.
PMID: 38992217
Nat Rev Rheumatol · 2024
0.80
4
SR-B1 and PDZK1: partners in HDL regulation.
PMID: 28134663
Curr Opin Lipidol · 2017
0.70
5
Common variant of PDZ domain containing 1 (PDZK1) gene is associated with gout susceptibility: A replication study and meta-analysis in Japanese population.
PMID: 27720648
Drug Metab Pharmacokinet · 2016
0.60