HCN1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | HCN1 |
| Official Name | hyperpolarization activated cyclic nucleotide gated potassium channel 1 [Source:HGNC Symbol;Acc:HGNC:4845] |
| Ensembl ID | ENSG00000164588 |
| Bio databases IDs | |
| Aliases | hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
| Synonyms | BCNG-1, C630013B14RIK, DEE24, EIEE24, GEFSP10, HAC-2, hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HCN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ion transport protein
- Ion transport protein N-terminal
- intracellular cAMP activated cation channel
- protein binding
- identical protein binding
- ion channel
- Cyclic nucleotide-monophosphate binding domain
- voltage-gated sodium channel
- Cyclic nucleotide-binding domain
- voltage-gated potassium channel
- phosphatidylinositol-3,4,5-triphosphate binding
- 3',5'-cAMP binding
- phosphatidylinositol-4,5-bisphosphate binding
- voltage-gated ion channel
- CAP_ED
- cation channel
Pathways
Biological processes and signaling networks where the HCN1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- early infantile epileptic encephalopathy type 24
- breast carcinoma
- generalized epilepsy with febrile seizures plus type 10
- breast cancer
- Alzheimer disease
- Ohtahara syndrome
- tonic-clonic seizure
- hereditary disorder
- seizures
- refractive error
role in cell
- development
- organization
- function
- depolarization
- formation
- transmembrane potential
- response by
- activity
- hyperpolarization
- excitability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- cell surface
- somatodendritic region
- postsynaptic region
- cellular membrane
- stereocilia
- presynaptic membrane
- postsynaptic membrane
- basolateral membrane
- synaptic vesicles
- dendritic trees
- stereocilia bundles
- perikaryon
- axons
- dendrites
- axon terminals
- dendritic shafts
- apical processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HCN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of postsynaptic membrane potential
- regulation of membrane potential
- protein homotetramerization
- potassium ion transmembrane transport
- apical protein localization
- cellular response to cAMP
- sodium ion transmembrane transport
- retinal cone cell development
- regulation of membrane depolarization
- general adaptation syndrome, behavioral process
- regulation of action potential in neuron
Cellular Component
Where in the cell the gene product is active
- dendrite
- postsynaptic membrane
- presynaptic active zone membrane
- plasma membrane
- axon
Molecular Function
What the gene product does at the molecular level
- voltage-gated potassium channel activity
- identical protein binding
- protein binding
- voltage-gated cation channel activity
- cAMP binding
- intracellular cAMP activated cation channel activity
- potassium channel activity
- voltage-gated sodium channel activity