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Kcne1 Gene Detail
Summary
  • Symbol
    Kcne1
  • Name
    potassium voltage-gated channel, Isk-related subfamily, member 1
  • Synonyms
    Isk, MinK, nmf190
  • Feature Type
    protein coding gene
  • IDs
    MGI:96673
    NCBI Gene: 16509
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr16:92346001-92359468 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13468 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 53.57 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    KCNE1, potassium voltage-gated channel subfamily E regulatory subunit 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    KCNE1, potassium voltage-gated channel subfamily E regulatory subunit 1
    Orthology source: HGNC
  • Synonyms
    ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK
  • Links
    NCBI Gene ID: 3753
    neXtProt AC: NX_P15382
    UniProt: P15382

  • Chr Location
    21q22.12; chr21:34446688-34512275 (-)  GRCh38.p7

  • Human Ortholog
    KCNE1B, potassium voltage-gated channel subfamily E regulatory subunit 1B
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 102723475
    neXtProt AC: NX_A0A087WTH5
    UniProt: A0A087WTH5

  • Chr Location
    chr21:7816677-7829632 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Kcne1 mouse models

Human Disease Mouse Models
      
IDs
View 2 models
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
    63 phenotypes from 4 alleles in 5 genetic backgrounds
    2 images
    39 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.
Homozygotes for targeted and spontaneous null mutations exhibit head-shaking, circling, ataxia, and severe deafness associated with inner ear defects. Older mutants show increased numbers of T cells. Study of cardiac myocytes in one line revealed physiologic defects.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039639 Ensembl Gene Model | MGI Sequence Detail 13468 C57BL/6J ±  kb
    transcript ENSMUST00000051705 Ensembl | MGI Sequence Detail 3155 Not Applicable  
    polypeptide ENSMUSP00000052248 Ensembl | MGI Sequence Detail 129 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      110 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000009255 potassium voltage-gated channel subfamily E member 1
    • InterPro Domains
      IPR000369 Potassium channel, voltage-dependent, beta subunit, KCNE
      IPR005424 Potassium channel, voltage-dependent, beta subunit, KCNE1
    Molecular
    Reagents
    less
    • All nucleic 28
      Genomic 1
      cDNA 21
      Primer pair 5
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-11577, MGI:2678336
    References
    more
    • Summaries
      All 90
      Developmental Gene Expression 21
      Diseases 3
      Gene Ontology 6
      Phenotypes 39
    • Earliest
      J:11462 Honore E, et al., Cloning, expression, pharmacology and regulation of a delayed rectifier K+ channel in mouse heart. EMBO J. 1991 Oct;10(10):2805-11
    • Latest
      J:247463 Toib A, et al., Remodeling of repolarization and arrhythmia susceptibility in a myosin-binding protein C knockout mouse model. Am J Physiol Heart Circ Physiol. 2017 Sep 01;313(3):H620-H630

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    06/05/2018
    MGI 6.12
    The Jackson Laboratory