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KCNC1 potassium voltage-gated channel subfamily C member 1 [ Homo sapiens (human) ]

Gene ID: 3746, updated on 2-Nov-2024

Summary

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Official Symbol
KCNC1provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily C member 1provided by HGNC
Primary source
HGNC:HGNC:6233
See related
Ensembl:ENSG00000129159 MIM:176258; AllianceGenome:HGNC:6233
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KV4; EPM7; NGK2; KV3.1
Summary
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]
Expression
Biased expression in brain (RPKM 5.1) and testis (RPKM 0.7) See more
Orthologs
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Genomic context

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See KCNC1 in Genome Data Viewer
Location:
11p15.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (17734781..17783057)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (17832488..17880755)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17756328..17804604)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4357 Neighboring gene Sharpr-MPRA regulatory region 13094 Neighboring gene long intergenic non-protein coding RNA 2729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17736199-17736699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17742067-17742578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:17742579-17743090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3187 Neighboring gene myogenic differentiation 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17782125-17782626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17787029-17787530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17787531-17788030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17793295-17793795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17792794-17793294 Neighboring gene secretion regulating guanine nucleotide exchange factor Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:17854771-17855271 Neighboring gene uncharacterized LOC124902642 Neighboring gene uncharacterized LOC107984317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:17888867-17889368 Neighboring gene NANOG hESC enhancer GRCh37_chr11:17920239-17920740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18032869-18033386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:18033387-18033903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4489 Neighboring gene tryptophan hydroxylase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Biochemical engineering of the N-acyl side chain of sialic acids alters the kinetics of a glycosylated potassium channel Kv3.1. Hall MK, et al. FEBS Lett, 2011 Oct 20. PMID 21945320
  2. Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. Nascimento FA, et al. Epileptic Disord, 2016 Sep 1. PMID 27629860
  3. Loss of Function of KCNC1 is associated with intellectual disability without seizures. Poirier K, et al. Eur J Hum Genet, 2017 May. PMID 28145425, Free PMC Article
  4. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties. Oliver KL, et al. Ann Neurol, 2017 May. PMID 28380698
  5. Kv3.1 uses a timely resurgent K(+) current to secure action potential repolarization. Labro AJ, et al. Nat Commun, 2015 Dec 17. PMID 26673941, Free PMC Article

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A KCNC1-related neurological disorder due to gain of Kv3.1 function.
    Title: A KCNC1-related neurological disorder due to gain of Kv3.1 function.
  2. Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain.
    Title: Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain.
  3. A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation.
    Title: A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation.
  4. Methylation gene KCNC1 is associated with overall survival in patients with seminoma.
    Title: Methylation gene KCNC1 is associated with overall survival in patients with seminoma.
  5. Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
    Title: Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
  6. Cross Pharmacological, Biochemical and Computational Studies of a Human Kv3.1b Inhibitor from Androctonus australis Venom.
    Title: Cross Pharmacological, Biochemical and Computational Studies of a Human Kv3.1b Inhibitor from Androctonus australis Venom.
  7. Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
    Title: Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
  8. First Evidence of Kv3.1b Potassium Channel Subtype Expression during Neuronal Serotonergic 1C11 Cell Line Development.
    Title: First Evidence of Kv3.1b Potassium Channel Subtype Expression during Neuronal Serotonergic 1C11 Cell Line Development.
  9. Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder.
    Title: Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder.
  10. Authors identified three new de novo missense variants in KCNC1 in five unrelated individuals causing different phenotypes featuring either isolated nonprogressive myoclonus (p.Cys208Tyr), intellectual disability (p.Thr399Met), or epilepsy with myoclonic, absence and generalized tonic-clonic seizures, ataxia, and developmental delay (p.Ala421Val, three patients).
    Title: KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.
Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Progressive myoclonic epilepsy type 7
MedGen: C4015420 OMIM: 616187 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ41162, FLJ42249, FLJ43491, MGC129855

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables delayed rectifier potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables kinesin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane transporter binding IEA
Inferred from Electronic Annotation
more info
  
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
enables voltage-gated potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in action potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in cerebellum development IEA
Inferred from Electronic Annotation
more info
  
involved_in corpus callosum development IEA
Inferred from Electronic Annotation
more info
  
involved_in globus pallidus development IEA
Inferred from Electronic Annotation
more info
  
involved_in optic nerve development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in potassium ion transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
involved_in protein tetramerization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
involved_in response to amine IEA
Inferred from Electronic Annotation
more info
  
involved_in response to auditory stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in response to fibroblast growth factor IEA
Inferred from Electronic Annotation
more info
  
involved_in response to light intensity IEA
Inferred from Electronic Annotation
more info
  
involved_in response to nerve growth factor IEA
Inferred from Electronic Annotation
more info
  
involved_in response to potassium ion IEA
Inferred from Electronic Annotation
more info
  
involved_in response to toxic substance IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in axolemma IEA
Inferred from Electronic Annotation
more info
  
is_active_in axon terminus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in calyx of Held IEA
Inferred from Electronic Annotation
more info
  
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
is_active_in dendrite membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in neuronal cell body membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in neuronal cell body membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of voltage-gated potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
voltage-gated potassium channel KCNC1
Names
potassium channel, voltage gated Shaw related subfamily C, member 1
voltage-gated potassium channel protein KV3.1
voltage-gated potassium channel subunit Kv4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_041827.1 RefSeqGene

    Range
    3834..52110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001112741.2 → NP_001106212.1  voltage-gated potassium channel KCNC1 isoform 1

    See identical proteins and their annotated locations for NP_001106212.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC124056, AC124078, AC124301
    Consensus CDS
    CCDS44547.1
    UniProtKB/TrEMBL
    A0A6Q8PHL6
    Related
    ENSP00000265969.7, ENST00000265969.8
    Conserved Domains (2) summary
    cd18414
    Location:6 → 122
    BTB_KCNC1_3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC1 and KCNC3
    pfam00520
    Location:189 → 447
    Ion_trans; Ion transport protein

  2. NM_004976.4 → NP_004967.1  voltage-gated potassium channel KCNC1 isoform 2

    See identical proteins and their annotated locations for NP_004967.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two exons and its 3' exon extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC124056, AK125480, AW452561, BC107129, DN993192
    Consensus CDS
    CCDS7827.1
    UniProtKB/Swiss-Prot
    K4DI87, P48547, Q3KNS8
    UniProtKB/TrEMBL
    A0A6Q8PHL6
    Related
    ENSP00000368785.3, ENST00000379472.4
    Conserved Domains (2) summary
    pfam00520
    Location:189 → 447
    Ion_trans; Ion transport protein
    pfam02214
    Location:10 → 104
    BTB_2; BTB/POZ domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    17734781..17783057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426916.1 → XP_047282872.1  voltage-gated potassium channel KCNC1 isoform X1

RNA

  1. XR_930866.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    17832488..17880755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368728.1 → XP_054224703.1  voltage-gated potassium channel KCNC1 isoform X1

RNA

  1. XR_008488395.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48547.1 GenPept UniProtKB/Swiss-Prot:P48547

Gene LinkOut

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