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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PACC1
proton activated chloride channel 1
Chromosome 1 · 1q32.3
NCBI Gene: 55248Ensembl: ENSG00000065600.14HGNC: HGNC:25593UniProt: B4DHQ5
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell surfacepH-gated chloride channel activitychloride transportprotein bindingplacental retentionovarian dysfunctionosteosarcomatype 2 diabetes mellitus
✦AI Summary

PACC1 encodes the proton-activated chloride (PAC) channel, a pH-gated ion channel that facilitates chloride entry into cells upon exposure to extracellular acidic conditions 1. The channel exists as a trimeric structure with each subunit containing two transmembrane helices and an extracellular domain that undergoes conformational changes during pH-dependent activation 2. PAC channels are broadly expressed across tissues, with particularly high expression in the brain where they localize to both neurons and astrocytes 3. The channel plays a critical role in acidosis-induced cell death by mediating chloride influx and subsequent cell swelling 14. Alternative splicing produces distinct isoforms with different cellular localizations: PACC1-V1 accumulates at the plasma membrane and enhances acid-induced cell death, while PACC1-V2 localizes to endosomes and prevents endosomal hyperacidification 3. Beyond neuronal function, PAC channels contribute to osteoclast-mediated bone resorption and associated pain in spine degeneration 5. The channel is inhibited by phosphatidylinositol (4,5)-bisphosphate (PIP2), which stabilizes it in a desensitized conformation 6. Clinically, PACC1 expression correlates with poor prognosis in triple-negative breast cancer and influences type 2 diabetes susceptibility 78.

Sources cited
1
PACC1 encodes the proton-activated chloride (PAC) channel, a pH-gated ion channel that facilitates chloride entry into cells upon exposure to extracellular acidic conditions .
PMID: 31023925
2
The channel exists as a trimeric structure with each subunit containing two transmembrane helices and an extracellular domain that undergoes conformational changes during pH-dependent activation .
PMID: 33149300
3
PAC channels are broadly expressed across tissues, with particularly high expression in the brain where they localize to both neurons and astrocytes .
PMID: 41696445
4
Beyond neuronal function, PAC channels contribute to osteoclast-mediated bone resorption and associated pain in spine degeneration .
PMID: 39196784
5
The channel is inhibited by phosphatidylinositol (4,5)-bisphosphate (PIP2), which stabilizes it in a desensitized conformation .
PMID: 36633397
Disease Associationsⓘ20
placental retentionOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.26Weak
osteosarcomaOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
Dupuytren ContractureOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
colorectal cancerOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
smoking initiationOpen Targets
0.03Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
bacterial diseaseOpen Targets
0.02Suggestive
bacteriemiaOpen Targets
0.02Suggestive
Low back painOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
dental cariesOpen Targets
0.02Suggestive
Mobius syndromeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TECRLProtein interaction72%ASGR1Protein interaction71%CLCN1Shared pathway67%CLCN4Shared pathway67%BSNDShared pathway67%CLIC3Shared pathway67%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
48%
Lung
18%
Heart
12%
Ovary
8%
Liver
7%
Gene Interaction Network
Click a node to explore
PACC1TECRLASGR1CLCN1CLCN4BSNDCLIC3
PROTEIN STRUCTURE
Preparing viewer…
PDB7SQH · 2.50 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.61–1.09]
RankingsWhere PACC1 stands among ~20K protein-coding genes
  • #13,710of 20,598
    Most Researched22
  • #11,066of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedPACC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of Key Prognostic Genes of Triple Negative Breast Cancer by LASSO-Based Machine Learning and Bioinformatics Analysis.
PMID: 35627287
Genes (Basel) · 2022
1.00
2
Proton-activated chloride channel increases endplate porosity and pain in a mouse spine degeneration model.
PMID: 39196784
J Clin Invest · 2024
0.90
3
PAC, an evolutionarily conserved membrane protein, is a proton-activated chloride channel.
PMID: 31023925
Science · 2019
0.80
4
Structures and pH-sensing mechanism of the proton-activated chloride channel.
PMID: 33149300
Nature · 2020
0.70
5
Alternative splicing regulates PACC1 function and promotes acidosis-induced cytotoxicity.
PMID: 41696445
Front Cell Dev Biol · 2025
0.60