KCNC1 Gene

HGNC Family	Ion channels
Name	potassium channel, voltage gated Shaw related subfamily C, member 1
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The KCNC1 gene encodes the Kv3.1 subunit, a high‐threshold, fast‐activating voltage‐gated potassium channel that is essential for rapid repolarization and the ability of neurons to fire at high frequencies. Studies have shown that Kv3.1 channels are prominently expressed in specific neuronal populations and display tightly regulated subcellular targeting—often as alternatively spliced variants (Kv3.1a and Kv3.1b) with distinct localization in axonal versus somatodendritic compartments—which underpins their role in temporal precision of action potential firing."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " Functional disruption of KCNC1—whether via dominant‐negative mutations that compromise channel activity or by gene deletion—has been linked to progressive myoclonus epilepsies and to impaired high-frequency firing in auditory circuits, which in turn can lead to deficits in sound localization and other abnormalities such as motor hyperactivity and reduced non-rapid eye movement sleep."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Furthermore, Kv3.1 channel expression and function are modulated by intracellular signaling pathways – for example, through IGF-1–dependent mechanisms and by the RNA-binding protein FMRP, which helps maintain the tonotopic gradient of Kv3.1b in auditory brainstem neurons."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "8"}]}, {"type": "t", "text": " Together, these findings underscore that KCNC1-encoded Kv3.1 channels play a critical role in regulating neuronal excitability, ensuring rapid repolarization for high-frequency firing, and thereby contributing to the proper timing of neurotransmission and the maintenance of neural circuit function.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.3144"}], "href": "https://doi.org/10.1038/ng.3144"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25401298"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25401298"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "T M Perney, J Marshall, K A Martin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of the mRNAs for the Kv3.1 potassium channel gene in the adult and developing rat brain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurophysiol (1992)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/jn.1992.68.3.756"}], "href": "https://doi.org/10.1152/jn.1992.68.3.756"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "1432046"}], "href": "https://pubmed.ncbi.nlm.nih.gov/1432046"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "A Ozaita, M E Martone, M H Ellisman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential subcellular localization of the two alternatively spliced isoforms of the Kv3.1 potassium channel subunit in brain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurophysiol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/jn.2002.88.1.394"}], "href": "https://doi.org/10.1152/jn.2002.88.1.394"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12091563"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12091563"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Carolyn M Macica, Christian A A von Hehn, Lu-Yang Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Modulation of the kv3.1b potassium channel isoform adjusts the fidelity of the firing pattern of auditory neurons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2003)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12598601"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12598601"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "F Espinosa, G Marks, N Heintz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased motor drive and sleep loss in mice lacking Kv3-type potassium channels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Brain Behav (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1046/j.1601-183x.2003.00054.x"}], "href": "https://doi.org/10.1046/j.1601-183x.2003.00054.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15005717"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15005717"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "N Gamper, S Fillon, S M Huber, et al. "}, {"type": "b", "children": [{"type": "t", "text": "IGF-1 up-regulates K+ channels via PI3-kinase, PDK1 and SGK1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pflugers Arch (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00424-001-0741-5"}], "href": "https://doi.org/10.1007/s00424-001-0741-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11907830"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11907830"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "John G Strumbos, Maile R Brown, Jack Kronengold, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fragile X mental retardation protein is required for rapid experience-dependent regulation of the potassium channel Kv3.1b."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.1125-10.2010"}], "href": "https://doi.org/10.1523/JNEUROSCI.1125-10.2010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20685971"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20685971"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Christian A A von Hehn, Arin Bhattacharjee, Leonard K Kaczmarek "}, {"type": "b", "children": [{"type": "t", "text": "Loss of Kv3.1 tonotopicity and alterations in cAMP response element-binding protein signaling in central auditory neurons of hearing impaired mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.4554-03.2004"}], "href": "https://doi.org/10.1523/JNEUROSCI.4554-03.2004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14985434"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14985434"}]}]}]}
Synonyms	KV4, NGK2, KV3.1, EPM7
Proteins	KCNC1_HUMAN
NCBI Gene ID	3746
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

KCNC1 has 5,468 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 111 datasets.

Click the + buttons to view associations for KCNC1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

KCNC1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of KCNC1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of KCNC1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of KCNC1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of KCNC1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of KCNC1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of KCNC1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of KCNC1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of KCNC1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of KCNC1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of KCNC1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of KCNC1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of KCNC1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with KCNC1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of KCNC1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of KCNC1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of KCNC1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with KCNC1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of KCNC1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of KCNC1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing KCNC1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing KCNC1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with KCNC1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with KCNC1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of KCNC1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with KCNC1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with KCNC1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with KCNC1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by KCNC1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DGIdb Drug Targets 2026	interacting drugs for KCNC1 protein from the DGIdb Drug Targets 2026 dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving KCNC1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with KCNC1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with KCNC1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with KCNC1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with KCNC1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with KCNC1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for KCNC1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at KCNC1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of KCNC1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of KCNC1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing KCNC1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.