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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OTOP1
otopetrin 1
Chromosome 4 · 4p16.3
NCBI Gene: 133060Ensembl: ENSG00000163982.6HGNC: HGNC:19656UniProt: Q7RTM1
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneproton channel activityproton transmembrane transportidentical protein bindingtype 1 diabetes mellitusobesitychorea, childhood-onset, with psychomotor retardationlacrimal apparatus disease
✦AI Summary

OTOP1 (otopetrin 1) is a proton-selective ion channel with biphasic activation properties that functions primarily in taste sensation and inner ear physiology. As the sour taste receptor, OTOP1 mediates inward proton currents in response to extracellular acidification in Type III taste receptor cells 1. Beyond acid sensing, OTOP1 functions as a sensor for ammonium chloride, wherein extracellular NH4Cl alkalinizes the cytosol, generating a driving force for proton influx through the channel 2. The channel exhibits distinct gating mechanisms: acid activation involves residues H229 and R292, while alkali activation (mediating proton efflux) requires K221 and R554, suggesting independent activation pathways 34. OTOP1 also exhibits alkali-sensitivity, potentially participating in alkaline taste sensation 4. Evolutionarily, avian OTOP1 variants show acid-induced inhibition enabling sour tolerance in birds consuming acidic fruits 5. Functionally, N-glycosylation at N238 and N251 residues in the extracellular S5-6 loop is essential for plasma membrane targeting and maximum current density 6. The channel responds to allosteric modulators including carvacrol and small molecule enhancers, with critical gating elements located in transmembrane segments and extracellular loops 78. OTOP1's role extends beyond taste to inner ear otolith formation and potentially metabolic homeostasis regulation.

Sources cited
1
OTOP1 identified as the bona fide sour sensor H+ channel in taste buds
PMID: 32936320
2
OTOP1 functions as sensor for ammonium chloride; NH4Cl alkalinizes cytosol to drive proton entry through OTOP1
PMID: 37798269
3
H229 in S5-6 loop critical for proton sensing; D570 in S11-12 loop regulates proton permeation
PMID: 36266567
4
OTOP1 is alkali-activated channel mediating proton efflux; K221 and R554 required for alkali activation
PMID: 36596786
5
Avian OTOP1 exhibits acid-induced inhibition enabling sour tolerance in birds consuming acidic fruits
PMID: 40536960
6
OTOP1 N-glycosylated at N238 and N251 in third extracellular loop; glycosylation necessary for plasma membrane targeting and current density
PMID: 39129225
7
S134 in TM3 and T247 in TM5-6 linker are critical gating elements for carvacrol activation of OTOP1
PMID: 39251752
8
Small molecule allosteric modulators enhance OTOP1 proton gating in pH-dependent manner; R554 essential for Zn2+ and alkali activation
PMID: 40011703
Disease Associationsⓘ20
type 1 diabetes mellitusOpen Targets
0.28Weak
obesityOpen Targets
0.07Suggestive
chorea, childhood-onset, with psychomotor retardationOpen Targets
0.07Suggestive
lacrimal apparatus diseaseOpen Targets
0.06Suggestive
iron metabolism diseaseOpen Targets
0.05Suggestive
esophageal diseaseOpen Targets
0.05Suggestive
hemorrhageOpen Targets
0.04Suggestive
hearing loss, autosomal dominant 87Open Targets
0.04Suggestive
VitiligoOpen Targets
0.04Suggestive
hearing loss, autosomal dominant 80Open Targets
0.04Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.04Suggestive
deafnessOpen Targets
0.04Suggestive
hearing loss, autosomal dominant 86Open Targets
0.04Suggestive
bronchopneumoniaOpen Targets
0.04Suggestive
complicationOpen Targets
0.04Suggestive
Lung AbscessOpen Targets
0.04Suggestive
dystonia 31Open Targets
0.03Suggestive
hearing loss, autosomal dominant 77Open Targets
0.03Suggestive
benign paroxysmal torticollis of infancyOpen Targets
0.03Suggestive
spinocerebellar ataxia type 18Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATP2B2Protein interaction90%OC90Protein interaction90%PKD2L1Protein interaction72%ATP2B4Protein interaction70%OTOP3Shared pathway20%OTOP2Shared pathway20%
Tissue Expression6 tissues
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Brain
0%
Lung
0%
Gene Interaction Network
Click a node to explore
OTOP1ATP2B2OC90PKD2L1ATP2B4OTOP3OTOP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7RTM1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.31 [1.06–1.63]
RankingsWhere OTOP1 stands among ~20K protein-coding genes
  • #17,135of 20,598
    Most Researched10
  • #15,798of 17,882
    Most Constrained (LOEUF)1.63
Genes detectedOTOP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Taste transduction and channel synapses in taste buds.
PMID: 32936320
Pflugers Arch · 2021
1.00
2
Molecular evolution of sour tolerance in birds.
PMID: 40536960
Science · 2025
0.90
3
The proton channel OTOP1 is a sensor for the taste of ammonium chloride.
PMID: 37798269
Nat Commun · 2023
0.80
4
The roles of two extracellular loops in proton sensing and permeation in human Otop1 proton channel.
PMID: 36266567
Commun Biol · 2022
0.70
5
Vertebrate OTOP1 is also an alkali-activated channel.
PMID: 36596786
Nat Commun · 2023
0.60