AlphaFold predicted structure
HCN1 · O60741
Mean pLDDT
68.9/ 100
Low
890 residues
Confidence breakdown
- Very high(≥ 90)39%
- Confident(70–90)21%
- Low(50–70)3%
- Very low(< 50)38%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
HCN1
Chr 5p12hyperpolarization activated cyclic nucleotide gated potassium channel 1
- Aliases:
- BCNG-1, HAC-2
- MANE:
- ENST00000303230.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
Generalized epilepsy with febrile seizures-plus
0.78undetermined early-onset epileptic encephalopathy
0.71genetic developmental and epileptic encephalopathy
0.68early-infantile DEE
0.64encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
0.51generalized epilepsy with febrile seizures plus
0.47schizophrenia
0.46breast carcinoma
0.46Seizure
0.38Irritability
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
Hyperpolarization-activated ion channel that are permeable to sodium and potassium ions (PubMed:15351778, PubMed:28086084). Displays lower selectivity for K(+) over Na(+) ions (PubMed:28086084). Contributes to the native pacemaker currents in heart (If) and in the generation of the I(h) current which controls neuron excitability (PubMed:29936235, PubMed:30351409). Participates in cerebellar mechanisms of motor learning (By similarity). May mediate responses to sour stimuli (By similarity)
Diseases associated with HCN1
Curated MONDO disease pages that list HCN1 among their top associated genes.