HCN1

The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]

Full Name

Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1

Function

Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions (PubMed:28086084).

Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). May mediate responses to sour stimuli.

Biological Process

Apical protein localization Source: Ensembl
Cellular response to cAMP Source: UniProtKB
Negative regulation of synaptic transmission, glutamatergic Source: Ensembl
Potassium ion transmembrane transport Source: UniProtKB
Protein homotetramerization Source: UniProtKB
Regulation of ion transmembrane transport Source: UniProtKB-KW
Regulation of membrane depolarization Source: ComplexPortal
Regulation of membrane potential Source: UniProtKB
Retinal cone cell development Source: Ensembl
Sodium ion transmembrane transport Source: UniProtKB

Cellular Location

Cell membrane

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.
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.

Topology

Cytoplasmic: 1-142
Helical: 143-164
Extracellular: 165-173
Helical: 174-194
Cytoplasmic: 195-215
Helical: 216-236
Extracellular: 237-260
Helical: 261-281
Cytoplasmic: 282-295
Helical: 296-318
Extracellular: 319-344
Pore-forming: 345-366
Extracellular: 367-371
Helical: 372-392
Cytoplasmic: 393-890