About   Help   FAQ
Kcnc1 Gene Detail
Summary
  • Symbol
    Kcnc1
  • Name
    potassium voltage gated channel, Shaw-related subfamily, member 1
  • Synonyms
    C230009H10Rik, Kcr2-1, KShIIIB, Kv3.1, KV4, NGK2, Shaw
  • Feature Type
    protein coding gene
  • IDs
    MGI:96667
    NCBI Gene: 16502
  • Alliance
    genome feature page
  • Transcription Start Sites
    16 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr7:46045921-46088128 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 30.10 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1000 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96667
 protein coding gene Chr7:46045643-46088130 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032264
 protein coding gene Chr7:46768646-46810585 (+)
A/J MGP_AJ_G0032243
 protein coding gene Chr7:45803029-45844757 (+)
AKR/J MGP_AKRJ_G0032179
 protein coding gene Chr7:47097520-47142183 (+)
BALB/cJ MGP_BALBcJ_G0032255
 protein coding gene Chr7:45809502-45852469 (+)
C3H/HeJ MGP_C3HHeJ_G0031970
 protein coding gene Chr7:47595592-47637421 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032747
 protein coding gene Chr7:49042103-49084029 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029761
 protein coding gene Chr7:48355344-48397002 (+)
CAST/EiJ MGP_CASTEiJ_G0031298
 protein coding gene Chr7:39027852-39072679 (+)
CBA/J MGP_CBAJ_G0031935
 protein coding gene Chr7:50679607-50721293 (+)
DBA/2J MGP_DBA2J_G0032092
 protein coding gene Chr7:45499197-45541047 (+)
FVB/NJ MGP_FVBNJ_G0032044
 protein coding gene Chr7:45284658-45327706 (+)
LP/J MGP_LPJ_G0032171
 protein coding gene Chr7:47463545-47505343 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032081
 protein coding gene Chr7:49312415-49356345 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032762
 protein coding gene Chr7:46312790-46354660 (+)
PWK/PhJ MGP_PWKPhJ_G0031021
 protein coding gene Chr7:38866095-38908908 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030859
 protein coding gene Chr7:34330192-34371812 (+)
WSB/EiJ MGP_WSBEiJ_G0031416
 protein coding gene Chr7:46811956-46857083 (+)



Homology
more
  • Human Ortholog
    KCNC1, potassium voltage-gated channel subfamily C member 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KCNC1, potassium voltage-gated channel subfamily C member 1
  • Synonyms
    EPM7, KV3.1, KV4, NGK2
  • Links
    NCBI Gene ID: 3746
    UniProt: P48547

  • Chr Location
    11p15.1; chr11:17734774-17856804 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Kcnc1 mouse models; 1 with human KCNC1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 2 alleles in 2 genetic backgrounds
    17 phenotypes from multigenic genotypes
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Heterozygosity for the epilepsy and ataxia associated p.R320H mutation affects cerebellar electrophysiology and leads to ataxia and epilepsy phenotypes; homozygous mice do not survive beyond weaning. Heterozygous expression of the p.A421V mutation associated with developmental and epileptic encephalopathy (DEE) affects cerebral cortex interneuron electrophysiology, which leads to leads to cognitive impairment, epilepsy and premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    94
  • GO References
    15
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    787
  • Tissues
    29
  • cDNA Data
    52
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000058975 Ensembl Gene Model | MGI Sequence Detail 42208 C57BL/6J ±  kb
    transcript ENSMUST00000160433 Ensembl | MGI Sequence Detail 3156 Not Applicable  
    polypeptide ENSMUSP00000124938 Ensembl | MGI Sequence Detail 585 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000000781 voltage-gated potassium channel KCNC1
      (term hierarchy)
    • InterPro Domains
      IPR000210 BTB/POZ domain
      IPR005821 Ion transport domain
      IPR003131 Potassium channel tetramerisation-type BTB domain
      IPR003968 Potassium channel, voltage dependent, Kv
      IPR003974 Potassium channel, voltage dependent, Kv3
      IPR005403 Potassium channel, voltage dependent, Kv3.1
      IPR011333 SKP1/BTB/POZ domain superfamily
      IPR027359 Voltage-dependent channel domain superfamily
      IPR028325 Voltage-gated potassium channel
    • GlyGen
      P15388 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 57
      cDNA 53
      Primer pair 4
      Antibodies 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-11571, MGD-MRK-11580, MGD-MRK-14399, MGI:2443956
    References
    more
    • Summaries
      All 102
      Developmental Gene Expression 14
      Diseases 2
      Gene Ontology 15
      Phenotypes 34
    • Earliest
      J:40342 Yokoyama S, et al., Potassium channels from NG108-15 neuroblastoma-glioma hybrid cells. Primary structure and functional expression from cDNAs. FEBS Lett. 1989 Dec 18;259(1):37-42
    • Latest
      J:386140 Wengert ER, et al., Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy. Elife. 2026 Feb 18;13
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    05/19/2026
    MGI 6.24     		The Jackson Laboratory