HCN1
Domain
The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
Function
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).
Involvement in disease
Developmental and epileptic encephalopathy 24
DEE24
A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals.
None
The disease is caused by variants affecting the gene represented in this entry.
Generalized epilepsy with febrile seizures plus 10
GEFSP10
An autosomal dominant neurologic disorder with incomplete penetrance, characterized by variable types of seizures including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Some patients have normal neurologic development. Others have mild-to-moderate intellectual disability or autism spectrum disorder.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the potassium channel HCN family.
Tissue Specificity
Detected in brain, in particular in amygdala and hippocampus, while expression in caudate nucleus, corpus callosum, substantia nigra, subthalamic nucleus and thalamus is very low or not detectable. Detected at very low levels in muscle and pancreas.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
BCNG1, HCN1, Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1, Brain cyclic nucleotide-gated channel 1, BCNG-1