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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PIERCE1
piercer of microtubule wall 1
Chromosome 9 · 9q34.3
NCBI Gene: 138162Ensembl: ENSG00000160345.14HGNC: HGNC:28435UniProt: Q5BN46
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingaxonemal microtubuledetermination of left/right symmetryflagellated sperm motilitycombined oxidative phosphorylation deficiency 36lung cancerHeterotaxiacolorectal carcinoma
✦AI Summary

PIERCE1 (piercer of microtubule wall 1) has dual functions in ciliary biology and cellular stress responses. As a microtubule inner protein, PIERCE1 is essential for outer dynein arm attachment to axonemal doublet microtubules, which is critical for motile cilia beating and left-right asymmetry specification 1. This ciliary function is reflected in its role during ciliogenesis, where PIERCE1 expression is downregulated during primary cilium formation 2. In cellular stress responses, PIERCE1 functions as a p53 target gene involved in DNA damage response. UVC irradiation induces PIERCE1 expression via p53 activation, and ATR signaling stabilizes PIERCE1 protein post-translationally 3. PIERCE1 knockdown impairs checkpoint response to UV damage, indicating its importance for genomic integrity. However, p53-responsiveness of PIERCE1 diverges significantly between species due to differences in promoter architecture—p53-responsive elements are conserved in mice but not humans 4. Regarding cancer relevance, PIERCE1 demonstrates context-dependent roles. In KRAS-mutant non-small cell lung cancer, PIERCE1 promotes tumor growth by suppressing TRIB3 expression through the CHOP pathway, thereby enhancing AKT signaling 5. Conversely, PIERCE1 shows no oncogenic or tumor-suppressive function in AOM/DSS-induced colorectal cancer 6. These findings suggest PIERCE1's role in tumorigenesis is mutation-context dependent rather than universally oncogenic.

Sources cited
1
PIERCE1 is a microtubule inner protein involved in outer dynein arm attachment to axonemal doublet microtubules, required for motile cilia beating and left-right asymmetry specification
PMID: 36191189
2
PIERCE1 is a p53 target gene induced by genotoxic stress (UVC irradiation) with stabilization dependent on ATR signaling; knockdown compromises DNA damage checkpoint response
PMID: 21159655
3
p53-responsive elements on PIERCE1 promoter are conserved in mice but not in humans, explaining differential p53-dependent PIERCE1 expression between species
PMID: 32745107
4
PIERCE1 promotes KRAS-mutant lung cancer growth by suppressing TRIB3 expression through the CHOP pathway, thereby enhancing AKT phosphorylation and proliferation
PMID: 32728173
5
PIERCE1 depletion and overexpression show no significant effects on colorectal cancer cell growth or AOM/DSS-induced tumorigenesis
PMID: 32581195
6
PIERCE1 expression is downregulated during primary cilium formation when cells arrest in G0/G1 phase following ATP6AP2 depletion
PMID: 28215051
Disease Associationsⓘ20
combined oxidative phosphorylation deficiency 36Open Targets
0.12Weak
lung cancerOpen Targets
0.07Suggestive
HeterotaxiaOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
primary ciliary dyskinesiaOpen Targets
0.06Suggestive
kidney diseaseOpen Targets
0.05Suggestive
liver diseaseOpen Targets
0.05Suggestive
scimitar syndromeOpen Targets
0.05Suggestive
heterotaxy, visceral, 9, autosomal, with male infertilityOpen Targets
0.04Suggestive
visceral heterotaxyOpen Targets
0.04Suggestive
heterotaxy, visceral, 12, autosomalOpen Targets
0.04Suggestive
ciliary dyskinesia, primary, 52Open Targets
0.04Suggestive
Ivemark syndromeOpen Targets
0.04Suggestive
right atrial isomerismOpen Targets
0.04Suggestive
renal-hepatic-pancreatic dysplasia 2Open Targets
0.04Suggestive
laterality defects, autosomal dominantOpen Targets
0.04Suggestive
DextrocardiaOpen Targets
0.04Suggestive
heterotaxy, visceral, 5, autosomalOpen Targets
0.04Suggestive
heterotaxy, visceral, 1, X-linkedOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EFHC2Protein interaction91%TEKT1Protein interaction91%CFAP45Protein interaction91%TEKT3Protein interaction90%EFHC1Protein interaction90%RIBC2Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Brain
95%
Bone Marrow
94%
Ovary
62%
Lung
60%
Heart
40%
Gene Interaction Network
Click a node to explore
PIERCE1EFHC2TEKT1CFAP45TEKT3EFHC1RIBC2
PROTEIN STRUCTURE
Preparing viewer…
PDB7UNG · 3.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.06 [0.67–1.67]
RankingsWhere PIERCE1 stands among ~20K protein-coding genes
  • #16,535of 20,598
    Most Researched12
  • #15,998of 17,882
    Most Constrained (LOEUF)1.67
Genes detectedPIERCE1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Divergence of the PIERCE1 expression between mice and humans as a p53 target gene.
PMID: 32745107
PLoS One · 2020
1.00
2
Effect of PIERCE1 on colorectal cancer.
PMID: 32581195
Exp Anim · 2020
0.80
3
Impaired AKT signaling and lung tumorigenesis by PIERCE1 ablation in KRAS-mutant non-small cell lung cancer.
PMID: 32728173
Oncogene · 2020
0.60
4
(Pro)renin receptor (ATP6AP2) depletion arrests As4.1 cells in the G0/G1 phase thereby increasing formation of primary cilia.
PMID: 28215051
J Cell Mol Med · 2017
0.40
5
Pierce1, a novel p53 target gene contributing to the ultraviolet-induced DNA damage response.
PMID: 21159655
Cancer Res · 2010
0.20