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Kcna1 Gene Detail
Summary
  • Symbol
    Kcna1
  • Name
    potassium voltage-gated channel, shaker-related subfamily, member 1
  • Synonyms
    Kv1.1, MBK1, mceph, Mk-1, mouse brain potassium channel protein-1, Shak
  • Feature Type
    protein coding gene
  • IDs
    MGI:96654
    NCBI Gene: 16485
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:126617360-126623347 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 61.57 cM, cytoband F1-F3
  • Mapping Data
    15 experiments
Strain
Comparison
more
  • SNPs within 2kb
    143 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96654
 protein coding gene Chr6:126613426-126623347 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031303
 protein coding gene Chr6:130088881-130094868 (-)
A/J MGP_AJ_G0031274
 protein coding gene Chr6:125145456-125151441 (-)
AKR/J MGP_AKRJ_G0031202
 protein coding gene Chr6:128534932-128540916 (-)
BALB/cJ MGP_BALBcJ_G0031281
 protein coding gene Chr6:124722717-124728702 (-)
C3H/HeJ MGP_C3HHeJ_G0031005
 protein coding gene Chr6:128660456-128666441 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031738
 protein coding gene Chr6:133474324-133480309 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028886
 protein coding gene Chr6:122336309-122341943 (-)
CAST/EiJ MGP_CASTEiJ_G0030386
 protein coding gene Chr6:128857735-128863726 (-)
CBA/J MGP_CBAJ_G0030966
 protein coding gene Chr6:138604427-138610412 (-)
DBA/2J MGP_DBA2J_G0031122
 protein coding gene Chr6:124050565-124056550 (-)
FVB/NJ MGP_FVBNJ_G0031071
 protein coding gene Chr6:122974752-122980737 (-)
LP/J MGP_LPJ_G0031202
 protein coding gene Chr6:130206851-130212836 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031110
 protein coding gene Chr6:142597555-142603542 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031773
 protein coding gene Chr6:128490740-128496726 (-)
PWK/PhJ MGP_PWKPhJ_G0030101
 protein coding gene Chr6:122302454-122308440 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029930
 protein coding gene Chr6:126562840-126568831 (-)
WSB/EiJ MGP_WSBEiJ_G0030471
 protein coding gene Chr6:128848855-128854846 (-)



Homology
more
  • Human Ortholog
    KCNA1, potassium voltage-gated channel subfamily A member 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KCNA1, potassium voltage-gated channel subfamily A member 1
  • Synonyms
    AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1
  • Links
    NCBI Gene ID: 3736
    neXtProt AC: NX_Q09470
    UniProt: Q09470

  • Chr Location
    12p13.32; chr12:4909905-4918256 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Kcna1 mouse models; 1 with human KCNA1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
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
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    56 phenotypes from 3 alleles in 7 genetic backgrounds
    3 images
    77 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.
Various mutations at this allele have diverse affects including behavioral abnormalities, megencephaly, and in one case, embryonic lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    103
  • GO References
    24
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
    961
  • Tissues
    115
  • cDNA Data
    19
  • Literature Summary
    25
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000047976 Ensembl Gene Model | MGI Sequence Detail 5988 C57BL/6J ±  kb
    transcript ENSMUST00000055168 Ensembl | MGI Sequence Detail 4031 Not Applicable  
    polypeptide ENSMUSP00000055225 Ensembl | MGI Sequence Detail 495 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000009250 voltage-gated potassium channel subunit KCNA1
      (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
      IPR003972 Potassium channel, voltage dependent, Kv1
      IPR004048 Potassium channel, voltage dependent, Kv1.1
      IPR011333 SKP1/BTB/POZ domain superfamily
      IPR027359 Voltage-dependent channel domain superfamily
    • GlyGen
      P16388 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 47
      Genomic 19
      cDNA 20
      Primer pair 3
      Other 5

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-11554, MGD-MRK-11558, MGD-MRK-12133, MGD-MRK-12248, MGD-MRK-14397, MGI:2141481, MGI:96931
    References
    more
    • Summaries
      All 180
      Developmental Gene Expression 25
      Diseases 3
      Gene Ontology 24
      Phenotypes 77
    • Earliest
      J:9129 Tempel BL, et al., Cloning of a probable potassium channel gene from mouse brain. Nature. 1988 Apr 28;332(6167):837-9
    • Latest
      J:351398 Peters C, et al., Voltage-Gated Ion Channels Are Transcriptional Targets of Sox10 during Oligodendrocyte Development. Cells. 2024 Jul 7;13(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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory