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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PDZK1IP1
PDZK1 interacting protein 1
Chromosome 1 · 1p33
NCBI Gene: 10158Ensembl: ENSG00000162366.9HGNC: HGNC:16887UniProt: Q13113
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingD-glucose import across plasma membraneextracellular exosomeapical plasma membraneneoplasmhepatocellular carcinomacolorectal carcinomapapillary thyroid carcinoma
✦AI Summary

PDZK1IP1 (PDZK1 interacting protein 1) functions as an auxiliary protein for electrogenic Na+-coupled glucose transporters, being essential for SLC5A2/SGLT2 activity but not SLC5A1/SGLT1 1. The protein plays diverse regulatory roles across multiple biological pathways. In TGF-β signaling, PDZK1IP1 acts as a negative regulator by interacting with Smad4, preventing R-Smad/Smad4 complex formation and retaining Smad4 in the cytoplasm, thereby suppressing both TGF-β and BMP pathways 2. PDZK1IP1 demonstrates oncogenic properties in papillary thyroid cancer, where overexpression promotes cell proliferation and inhibits apoptosis, while knockdown has opposite effects 3. The protein also contributes to immune cell stemness programs, being part of a core stemness signature in exhausted CD8+ T cells that is suppressed by BCOR and ZC3H12A 4. In disease contexts, PDZK1IP1 shows elevated expression in alcoholic liver disease and serves as a potential biomarker in ulcerative colitis and Crohn's disease, where lower expression may predict positive treatment responses to ustekinumab 567. These findings highlight PDZK1IP1's multifaceted roles in glucose transport, cellular signaling, cancer progression, and immune regulation.

Sources cited
1
PDZK1IP1 is essential for SLC5A2/SGLT2 transporter activity but not SLC5A1/SGLT1
PMID: 34880493
2
PDZK1IP1 interacts with Smad4 and suppresses TGF-β signaling by preventing R-Smad/Smad4 complex formation
PMID: 30718277
3
PDZK1IP1 acts as an oncogene in papillary thyroid cancer, promoting proliferation and inhibiting apoptosis
PMID: 35727731
4
PDZK1IP1 is part of a core stemness program in exhausted CD8+ T cells
PMID: 40327039
5
PDZK1IP1 expression is elevated in alcoholic liver disease
PMID: 38042280
6
PDZK1IP1 serves as a biomarker for ulcerative colitis
PMID: 39414957
7
Lower PDZK1IP1 expression predicts positive ustekinumab treatment response in Crohn's disease
PMID: 38840917
Disease Associationsⓘ20
neoplasmOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
papillary thyroid carcinomaOpen Targets
0.09Suggestive
dental cariesOpen Targets
0.08Suggestive
sarcomaOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
non-alcoholic steatohepatitisOpen Targets
0.07Suggestive
pancreatic neoplasmOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
uterine cervix neoplasmOpen Targets
0.05Suggestive
esophageal diseaseOpen Targets
0.05Suggestive
adenocarcinomaOpen Targets
0.05Suggestive
systemic sclerodermaOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
morbid obesityOpen Targets
0.04Suggestive
gastric cancerOpen Targets
0.04Suggestive
kidney oncocytomaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
psoriasisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PDZK1Protein interaction97%DMBT1Protein interaction76%SLC5A2Protein interaction65%SLC5A1Protein interaction63%SLC60A2Shared pathway50%SLC5A4Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
78%
Liver
8%
Heart
1%
Brain
1%
Ovary
1%
Gene Interaction Network
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PDZK1IP1PDZK1DMBT1SLC5A2SLC5A1SLC60A2SLC5A4
PROTEIN STRUCTURE
Preparing viewer…
PDB9KMN · 2.47 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.65 [0.39–1.14]
RankingsWhere PDZK1IP1 stands among ~20K protein-coding genes
  • #8,710of 20,598
    Most Researched51
  • #11,850of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedPDZK1IP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structural basis of inhibition of the human SGLT2-MAP17 glucose transporter.
PMID: 34880493
Nature · 2022
1.00
2
FXR1 associates with and degrades PDZK1IP1 and ATOH8 mRNAs and promotes esophageal cancer progression.
PMID: 39511680
Biol Direct · 2024
0.90
3
BCOR and ZC3H12A suppress a core stemness program in exhausted CD8+ T cells.
PMID: 40327039
J Exp Med · 2025
0.80
4
Fenofibrate inhibits MOXD1 and PDZK1IP1 expression and improves lipid deposition and inflammation in mice with alcoholic fatty liver.
PMID: 38042280
Life Sci · 2024
0.70
5
PDZK1 Interacting Protein 1 Promotes the Progression of Papillary Thyroid Cancer.
PMID: 35727731
J Clin Endocrinol Metab · 2022
0.60