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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
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:92142889-92156356 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 53.57 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    671 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96673
 protein coding gene Chr16:92142870-92156356 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023056
 protein coding gene Chr16:93429483-93443014 (-)
A/J MGP_AJ_G0023024
 protein coding gene Chr16:89050155-89063740 (-)
AKR/J MGP_AKRJ_G0022994
 protein coding gene Chr16:91766979-91780568 (-)
BALB/cJ MGP_BALBcJ_G0023026
 protein coding gene Chr16:89579064-89592661 (-)
C3H/HeJ MGP_C3HHeJ_G0022787
 protein coding gene Chr16:92305238-92318829 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023473
 protein coding gene Chr16:96416483-96430898 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020975
 protein coding gene Chr16:86735667-86749307 (-)
CAST/EiJ MGP_CASTEiJ_G0022306
 protein coding gene Chr16:92899240-92911985 (-)
CBA/J MGP_CBAJ_G0022756
 protein coding gene Chr16:100562389-100577243 (-)
DBA/2J MGP_DBA2J_G0022890
 protein coding gene Chr16:88957860-88971530 (-)
FVB/NJ MGP_FVBNJ_G0022864
 protein coding gene Chr16:88079759-88092737 (-)
LP/J MGP_LPJ_G0022960
 protein coding gene Chr16:93120432-93133813 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022885
 protein coding gene Chr16:105059304-105073240 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023491
 protein coding gene Chr16:92272704-92286615 (-)
PWK/PhJ MGP_PWKPhJ_G0022051
 protein coding gene Chr16:89141118-89154807 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021881
 protein coding gene Chr16:91838992-91853603 (-)
WSB/EiJ MGP_WSBEiJ_G0022358
 protein coding gene Chr16:92513533-92528249 (-)



Homology
more
  • Human Ortholog
    KCNE1, potassium voltage-gated channel subfamily E regulatory subunit 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KCNE1, potassium voltage-gated channel subfamily E regulatory subunit 1
  • Synonyms
    ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK
  • Links
    NCBI Gene ID: 3753
    neXtProt AC: NX_P15382
    UniProt: P15382

  • Chr Location
    21q22.12; chr21:34446688-34512214 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Kcne1 mouse models; 4 with human KCNE1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    87 phenotypes from 5 alleles in 6 genetic backgrounds
    2 phenotypes from multigenic genotypes
    2 images
    109 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
less
  • All GO Annotations
    76
  • GO References
    13
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
    1014
  • Tissues
    202
  • cDNA Data
    22
  • Literature Summary
    26
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16509 NCBI Gene Model | MGI Sequence Detail 13468 C57BL/6J ±  kb
    transcript NM_008424 RefSeq | MGI Sequence Detail 3155 ZRU/MplStud  
    polypeptide P23299 UniProt | EBI | MGI Sequence Detail 129 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000009255 potassium voltage-gated channel subfamily E member 1
      (term hierarchy)
    • InterPro Domains
      IPR000369 Potassium channel, voltage-dependent, beta subunit, KCNE
      IPR005424 Potassium voltage-gated channel subfamily E member 1
    • GlyGen
      P23299 3 sites
    Molecular
    Reagents
    less
    • All nucleic 34
      Genomic 1
      cDNA 23
      Primer pair 8
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-11577, MGI:2678336
    References
    more
    • Summaries
      All 171
      Developmental Gene Expression 26
      Diseases 7
      Gene Ontology 13
      Phenotypes 109
    • 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:355142 Gomez-Del Arco P, et al., The G4 resolvase Dhx36 modulates cardiomyocyte differentiation and ventricular conduction system development. Nat Commun. 2024 Oct 4;15(1):8602
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory