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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CALHM1
calcium homeostasis modulator 1
Chromosome 10 · 10q24.33
NCBI Gene: 255022Ensembl: ENSG00000185933.7HGNC: HGNC:23494UniProt: Q8IU99
47PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein homooligomerizationregulation of monoatomic ion transmembrane transportcalcium-activated cation channel activityvoltage-gated monoatomic ion channel activityIschemic strokegallbladder diseaseUterine leiomyomaMenorrhagia
✦AI Summary

CALHM1 is a voltage-gated, calcium-activated ion channel that functions as a pore-forming subunit with broad physiological roles. In taste sensation, CALHM1 forms an action potential-dependent ATP-release channel with CALHM3 in type II taste bud cells, mediating neurotransmitter release for sweet, bitter, and umami taste perception 1. The channel exhibits poor ion selectivity with a wide ~14 Ångström pore permitting Ca²⁺, Na⁺, K⁺, Cl⁻, and ATP permeation 2. CALHM1 gating is allosterically regulated by membrane voltage and extracellular Ca²⁺ concentration, with the amino-terminal helix and first transmembrane domain contributing to voltage-dependent gating 3. In neurons, CALHM1 mediates Ca²⁺ influx and downstream ERK1/2 cascade activation, while also triggering endoplasmic reticulum stress through Ca²⁺ depletion 4. Structurally, CALHM1 exists as a hexameric assembly with conserved lipid-binding pockets regulating channel activity 2. Disease relevance includes potential Alzheimer's disease involvement through amyloid-β metabolism regulation; the rare R154H variant impairs Ca²⁺ uptake and Aβ control, while the common G330D variant shows no functional consequences 5. Meta-analysis suggests the rs2986017 polymorphism associates with increased AD risk in Caucasian populations 6.

Sources cited
1
CALHM1/3 forms an action potential-activated channel functioning as ATP-release conduit in taste cells for sweet, bitter, and umami taste perception
PMID: 32936320
2
CALHM1 octameric structure with ~14 Ångström pore, lipid-binding pocket regulation, and pore formation by amino-terminal helix
PMID: 37380652
3
CALHM1 gating mechanisms involving voltage dependence through amino-terminus and first transmembrane domain, with extracellular Ca²⁺ regulation
PMID: 39981825
4
CALHM1 hexameric channel regulated by voltage and extracellular Ca²⁺, permeable to Ca²⁺ and ATP, roles in neuronal excitability and taste sensation
PMID: 26603282
5
R154H variant impairs CALHM1 control of cytosolic Ca²⁺ and Aβ levels; G330D variant shows no functional consequences
PMID: 25386646
6
rs2986017 polymorphism associated with increased Alzheimer's disease risk in Caucasian but not Asian populations
PMID: 26700797
Disease Associationsⓘ20
Ischemic strokeOpen Targets
0.34Weak
gallbladder diseaseOpen Targets
0.32Weak
Uterine leiomyomaOpen Targets
0.07Suggestive
MenorrhagiaOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
strokeOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
cerebrovascular disorderOpen Targets
0.05Suggestive
rheumatoid arthritisOpen Targets
0.05Suggestive
heart failureOpen Targets
0.04Suggestive
Pallister-Hall syndromeOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
atrial flutterOpen Targets
0.04Suggestive
cardiac arrhythmiaOpen Targets
0.04Suggestive
IGA glomerulonephritisOpen Targets
0.04Suggestive
cardioembolic strokeOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
placenta praeviaOpen Targets
0.03Suggestive
epilepsyOpen Targets
0.03Suggestive
heart diseaseOpen Targets
0.03Suggestive
Pathogenic Variants1
NM_001001412.4(CALHM1):c.461G>A (p.Arg154His)Likely pathogenic
not provided
★☆☆☆2016→ Residue 154
View on ClinVar ↗
Related Genes
PLCB2Protein interaction98%SCN2AProtein interaction93%SCN3AProtein interaction93%SCN9AProtein interaction93%TRPM5Protein interaction80%TAS1R2Protein interaction80%
Tissue Expression6 tissues
Brain
100%
Ovary
18%
Lung
5%
Liver
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CALHM1PLCB2SCN2ASCN3ASCN9ATRPM5TAS1R2
PROTEIN STRUCTURE
Preparing viewer…
PDB8GMP · 2.80 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.29LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.55–1.29]
RankingsWhere CALHM1 stands among ~20K protein-coding genes
  • #9,180of 20,598
    Most Researched47
  • #5,117of 5,498
    Most Pathogenic Variants1
  • #13,615of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedCALHM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Taste transduction and channel synapses in taste buds.
PMID: 32936320
Pflugers Arch · 2021
1.00
2
Structure of human CALHM1 reveals key locations for channel regulation and blockade by ruthenium red.
PMID: 37380652
Nat Commun · 2023
0.90
3
ATP Release Channels.
PMID: 29534490
Int J Mol Sci · 2018
0.80
4
Generation of Calhm1 knockout mouse and characterization of calhm1 gene expression.
PMID: 22723178
Protein Cell · 2012
0.70
5
Effect of the CALHM1 G330D and R154H human variants on the control of cytosolic Ca2+ and Aβ levels.
PMID: 25386646
PLoS One · 2014
0.60