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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
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
    KCNE1B, potassium voltage-gated channel subfamily E regulatory subunit 1B
  • Vertebrate Orthologs
    8
  • Human Ortholog
    KCNE1B, potassium voltage-gated channel subfamily E regulatory subunit 1B
    Orthology source: HomoloGene
  • Links
    NCBI Gene ID: 102723475
    neXtProt AC: NX_A8MWV9

  • Chr Location
    chr21:7789189-7829632 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Kcne1 mouse models

Human Disease Mouse Models
       Jervell and Lange-Nielsen Syndrome 2; JLNS2   OMIM: 612347 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
    38 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
    14
  • Chemically induced (ENU)
    1
  • Spontaneous
    1
  • Targeted
    11
  • Transgenic
    1
  • Genomic Mutations
    6 involving Kcne1
  • Incidental Mutations
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
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
less
Sequences &
Gene Models
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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 75
    Developmental Gene Expression 20
    Diseases 3
    Gene Ontology 6
    Phenotypes 38
  • 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:224301 Harris JP, et al., MyoR modulates cardiac conduction by repressing Gata4. Mol Cell Biol. 2015 Feb;35(4):649-61

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
08/17/2016
MGI 6.05
The Jackson Laboratory