HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1)
2003-05-01 AffiliationIdentity
HGNC
LOCATION
5p12
LOCUSID
ALIAS
BCNG-1,BCNG1,DEE24,EIEE24,GEFSP10,HAC-2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 348980
MIM: 602780
HGNC: 4845
Ensembl: ENSG00000164588
Variants:
dbSNP: 348980
ClinVar: 348980
TCGA: ENSG00000164588
COSMIC: HCN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164588 | ENST00000303230 | O60741 |
| ENSG00000164588 | ENST00000634658 | A0A0U1RQR7 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Neuronal System | REACTOME | R-HSA-112316 |
| Potassium Channels | REACTOME | R-HSA-1296071 |
| HCN channels | REACTOME | R-HSA-1296061 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166131379 | o-desmethyltramadol | Chemical | ClinicalAnnotation | associated | PK | 30971809 | |
| PA451735 | tramadol | Chemical | ClinicalAnnotation | associated | PK | 30971809 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38009841 | 2024 | HCN1 pathogenic variants associated with childhood epilepsy in a cohort of Chinese patients. | 0 |
| 38890331 | 2024 | Structural basis for hyperpolarization-dependent opening of human HCN1 channel. | 2 |
| 38009841 | 2024 | HCN1 pathogenic variants associated with childhood epilepsy in a cohort of Chinese patients. | 0 |
| 38890331 | 2024 | Structural basis for hyperpolarization-dependent opening of human HCN1 channel. | 2 |
| 37366350 | 2023 | The Impact of Altered HCN1 Expression on Brain Function and Its Relationship with Epileptogenesis. | 0 |
| 37366350 | 2023 | The Impact of Altered HCN1 Expression on Brain Function and Its Relationship with Epileptogenesis. | 0 |
| 34197835 | 2021 | HCN1 channels: A versatile tool for signal processing by primary sensory neurons. | 5 |
| 34298002 | 2021 | Biophysical analysis of an HCN1 epilepsy variant suggests a critical role for S5 helix Met-305 in voltage sensor to pore domain coupling. | 7 |
| 34310985 | 2021 | Do the functional properties of HCN1 mutants correlate with the clinical features in epileptic patients? | 9 |
| 34429357 | 2021 | Developmental HCN channelopathy results in decreased neural progenitor proliferation and microcephaly in mice. | 4 |
| 34197835 | 2021 | HCN1 channels: A versatile tool for signal processing by primary sensory neurons. | 5 |
| 34298002 | 2021 | Biophysical analysis of an HCN1 epilepsy variant suggests a critical role for S5 helix Met-305 in voltage sensor to pore domain coupling. | 7 |
| 34310985 | 2021 | Do the functional properties of HCN1 mutants correlate with the clinical features in epileptic patients? | 9 |
| 34429357 | 2021 | Developmental HCN channelopathy results in decreased neural progenitor proliferation and microcephaly in mice. | 4 |
| 32184399 | 2020 | Gating mechanism of hyperpolarization-activated HCN pacemaker channels. | 23 |
Citation
Dessen P
HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/40799/hcn1-(hyperpolarization-activated-cyclic-nucleotide-gated-potassium-channel-1)
