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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
  • Gene Overview
    MyGene.info: KCNA1
Location & Maps
more
  • Sequence Map
    Chr6:126640397-126646384 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5988 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 61.57 cM, cytoband F1-F3
  • Mapping Data
    15 experiments
Homology
more
  • Human Ortholog
    KCNA1, potassium voltage-gated channel subfamily A member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KCNA1, potassium voltage-gated channel subfamily A member 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1
  • Links
    NCBI Gene ID: 3736
    neXtProt AC: NX_Q09470

  • Chr Location
    12p13.32; chr12:4909907-4918256 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Kcna1 mouse models; 1 with human KCNA1 associations

Human Disease Mouse Models
       Episodic Ataxia, Type 1; EA1   OMIM: 160120 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    56 phenotypes from 3 alleles in 7 genetic backgrounds
    3 images
    41 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.
  • All Mutations and Alleles
    5
  • Spontaneous
    1
  • Targeted
    4
  • Incidental Mutations
Various mutations at this allele have diverse affects including behavioral abnormalities, megencephaly, and in one case, embryonic lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000056736 VEGA Gene Model | MGI Sequence Detail 5988 C57BL/6J ±  kb
transcript OTTMUST00000140006 VEGA | MGI Sequence Detail 4031 Not Applicable  
polypeptide OTTMUSP00000073434 VEGA | MGI Sequence Detail 495 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    49 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000009250 voltage-gated potassium channel subunit KCNA1
  • 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
    IPR027359 Voltage-dependent channel, four helix bundle domain
    IPR028325 Voltage-gated potassium channel
Molecular
Reagents
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  • All nucleic 43
    Genomic 19
    cDNA 17
    Primer pair 3
    Other 4

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-11554, MGD-MRK-11558, MGD-MRK-12133, MGD-MRK-12248, MGD-MRK-14397, MGI:2141481, MGI:96931
References
more
  • Summaries
    All 125
    Developmental Gene Expression 19
    Diseases 1
    Gene Ontology 16
    Phenotypes 41
  • 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:232973 Hirst CS, et al., Ion channel expression in the developing enteric nervous system. PLoS One. 2015;10(3):e0123436

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory