KCNC1 Gene Summary [Human]
This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]
Details
| Type | Protein Coding |
| Official Symbol | KCNC1 |
| Official Name | potassium voltage-gated channel subfamily C member 1 [Source:HGNC Symbol;Acc:HGNC:6233] |
| Ensembl ID | ENSG00000129159 |
| Bio databases IDs | |
| Aliases | potassium voltage-gated channel subfamily C member 1 |
| Synonyms | C230009H10RIK, EPM7, Kcr2-1, KShIIIB, KV3.1, KV4, NGK2, NGK2-KV4, potassium voltage gated channel, Shaw-related subfamily, member 1, potassium voltage-gated channel subfamily C member 1, Shaw |
| 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 KCNC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- delayed rectifier potassium channel
- voltage-gated potassium channel
- Ion transport protein
- Broad-Complex, Tramtrack and Bric a brac
- BTB_POZ
- ion channel binding
- protein binding
- voltage-gated ion channel
- ion channel
- kinesin binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- multiple sclerosis
- psoriasis
- weight loss
- weight gain
- hereditary disorder
- primary progressive multiple sclerosis
- progressive myoclonic epilepsy
- ataxia
- progressive myoclonic epilepsy type 7
- tremor
role in cell
- quantity
- firing
- action potential
- long-term potentiation
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
- membrane fraction
- cell surface
- cellular membrane
- presynaptic membrane
- postsynaptic membrane
- nodes of Ranvier
- axonal membrane
- neurites
- perikaryon
- dendrites
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion transmembrane transport
- cerebellum development
- response to amine stimulus
- globus pallidus development
- protein homooligomerization
- response to light intensity
- response to toxin
- optic nerve development
- corpus callosum development
- potassium ion transport
- protein tetramerization
- response to auditory stimulus
- regulation of action potential
- cellular response to xenobiotic stimulus
- response to fibroblast growth factor stimulus
- response to potassium ion
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- dendrite membrane
- postsynaptic membrane
- voltage-gated potassium channel complex
- axolemma
- neuronal cell body membrane
- axon terminus
- plasma membrane
- calyx of Held
- cell surface
Molecular Function
What the gene product does at the molecular level
- voltage-gated potassium channel activity
- protein binding
- delayed rectifier potassium channel activity
- kinesin binding
- ion channel binding