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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PINX1
PIN2 (TERF1) interacting telomerase inhibitor 1
Chromosome 8 · 8p23.1
NCBI Gene: 54984Ensembl: ENSG00000254093.10HGNC: HGNC:30046UniProt: Q96BK5
118PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
telomere maintenance via telomerasenuclear chromosomekinetochorechromosome, telomeric regionAbnormality of the skeletal systemfamilial lipoprotein lipase deficiencycoronary artery diseasemetabolic syndrome
✦AI Summary

PINX1 (PIN2/TRF1 interacting telomerase inhibitor 1) is a chromosome 8-localized telomerase inhibitor functioning as a tumor suppressor through multiple mechanisms. Structurally, PINX1 binds directly to telomerase subunits hTERT and hTR, repressing telomerase activity by associating with the assembled hTERT-hTR complex 1. Beyond telomerase inhibition, PINX1 regulates NF-κB transcription factor activity, with its N-terminal domain (amino acids 2-252) modulating NF-κB-dependent gene expression more effectively than its C-terminal telomerase-inhibitor domain 2. Functionally, PINX1 suppresses cancer progression through the NF-κB/MMP-9 pathway, inhibiting breast cancer invasion and metastasis 3. Clinically, reduced PINX1 expression correlates with poor overall survival and disease-free survival, lymphatic invasion, and advanced tumor-node-metastasis stage across multiple cancer types 4. In gastric carcinoma, loss of heterozygosity and histone H4 hypoacetylation at the PINX1 locus associate with reduced expression and elevated telomerase activity 5. PINX1 expression varies among cancer types, suggesting cancer-specific roles in tumorigenesis and progression 6, with emerging therapeutic potential targeting both its telomerase-inhibitory and NF-κB-regulatory functions 7.

Sources cited
1
PinX1 binds directly to hTERT and hTR to repress telomerase activity
PMID: 15381700
2
PINX1 N-terminus modulates NF-κB activity in inflammatory responses, with differential domain functions
PMID: 29305433
3
PinX1 suppresses breast cancer invasion/metastasis via NF-κB/MMP-9 pathway and correlates with survival
PMID: 25888829
4
Low PINX1 expression associates with poor overall and disease-free survival, lymphatic invasion, and advanced TNM stage
PMID: 30079348
5
Loss of heterozygosity and histone H4 hypoacetylation at PINX1 locus correlate with reduced expression in gastric cancer
PMID: 15637589
6
PINX1 expression varies by cancer type and plays multifaceted roles in cancer development with therapeutic potential
PMID: 39550726
7
PinX1 is a putative tumor suppressor involved in tumor genesis with potential therapeutic targeting of its TID domain
PMID: 27556185
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.36Weak
familial lipoprotein lipase deficiencyOpen Targets
0.35Weak
coronary artery diseaseOpen Targets
0.35Weak
metabolic syndromeOpen Targets
0.34Weak
hypertensionOpen Targets
0.32Weak
risk-taking behaviourOpen Targets
0.30Weak
Peyronie diseaseOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.30Weak
response to xenobiotic stimulusOpen Targets
0.27Weak
aneurysmOpen Targets
0.25Weak
medical procedureOpen Targets
0.25Weak
type 2 diabetes mellitusOpen Targets
0.25Weak
essential hypertensionOpen Targets
0.25Weak
refractive errorOpen Targets
0.25Weak
alcohol drinkingOpen Targets
0.23Weak
attention deficit hyperactivity disorderOpen Targets
0.22Weak
Abnormality of refractionOpen Targets
0.20Weak
male reproductive organ cancerOpen Targets
0.20Weak
acneOpen Targets
0.17Weak
Increased blood pressureOpen Targets
0.16Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNU13Protein interaction100%TSR1Protein interaction100%WDR46Protein interaction100%BYSLProtein interaction100%DHX15Protein interaction97%SURF6Protein interaction97%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
93%
Ovary
84%
Lung
75%
Brain
55%
Heart
49%
Gene Interaction Network
Click a node to explore
PINX1SNU13TSR1WDR46BYSLDHX15SURF6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96BK5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.48 [0.97–1.92]
RankingsWhere PINX1 stands among ~20K protein-coding genes
  • #4,009of 20,598
    Most Researched118 · top quartile
  • #17,405of 17,882
    Most Constrained (LOEUF)1.92
Genes detectedPINX1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PinX1 plays multifaceted roles in human cancers: a review and perspectives.
PMID: 39550726
Mol Biol Rep · 2024
1.00
2
Prognostic and Clinicopathological Value of
PMID: 30079348
Biomed Res Int · 2018
0.90
3
PinX1: structure, regulation and its functions in cancer.
PMID: 27556185
Oncotarget · 2016
0.80
4
PINX1 and TERT Are Required for TNF-α-Induced Airway Smooth Muscle Chemokine Gene Expression.
PMID: 29305433
J Immunol · 2018
0.70
5
PinX1 inhibits the invasion and metastasis of human breast cancer via suppressing NF-κB/MMP-9 signaling pathway.
PMID: 25888829
Mol Cancer · 2015
0.60