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Kcnh1 Gene Detail
Summary
  • Symbol
    Kcnh1
  • Name
    potassium voltage-gated channel, subfamily H (eag-related), member 1
  • Synonyms
    Eag1, ether a go-go, Kv10.1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341721
    NCBI Gene: 16510
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:191873082-192192467 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 97.33 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    8839 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341721
 protein coding gene Chr1:191871759-192192467 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016953
 protein coding gene Chr1:199231944-199564632 (+)
A/J MGP_AJ_G0016932
 protein coding gene Chr1:191047824-191365000 (+)
AKR/J MGP_AKRJ_G0016897
 protein coding gene Chr1:196734730-197061333 (+)
BALB/cJ MGP_BALBcJ_G0016890
 protein coding gene Chr1:191723910-192039150 (+)
C3H/HeJ MGP_C3HHeJ_G0016714
 protein coding gene Chr1:197577469-197919335 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017353
 protein coding gene Chr1:205603092-205940033 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015060
 protein coding gene Chr1:181942768-182251211 (+)
CAST/EiJ MGP_CASTEiJ_G0016297
 protein coding gene Chr1:197177952-197501520 (+)
CBA/J MGP_CBAJ_G0016688
 protein coding gene Chr1:213203340-213568477 (+)
DBA/2J MGP_DBA2J_G0016794
 protein coding gene Chr1:189772065-190096929 (+)
FVB/NJ MGP_FVBNJ_G0016790
 protein coding gene Chr1:187893227-188214846 (+)
LP/J MGP_LPJ_G0016869
 protein coding gene Chr1:200416832-200747777 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016822
 protein coding gene Chr1:219835811-220182617 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017390
 protein coding gene Chr1:196594772-196905918 (+)
PWK/PhJ MGP_PWKPhJ_G0016084
 protein coding gene Chr1:189072238-189395126 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015860
 protein coding gene Chr1:195598402-195925771 (+)
WSB/EiJ MGP_WSBEiJ_G0016359
 protein coding gene Chr1:196844744-197183396 (+)



Homology
more
  • Human Ortholog
    KCNH1, potassium voltage-gated channel subfamily H member 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KCNH1, potassium voltage-gated channel subfamily H member 1
  • Synonyms
    EAG, EAG1, h-eag, hEAG, hEAG1, Kv10.1, K(V)10.1, TMBTS, ZLS1
  • Links
    NCBI Gene ID: 3756
    neXtProt AC: NX_O95259
    UniProt: O95259

  • Chr Location
    1q32.2; chr1:210676823-211134165 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human KCNH1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 2 alleles in 2 genetic backgrounds
    7 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.
Homozygous mutant mice exhibit a decreased depressive-like response during tail suspension testing. Mice homozygous for a different knock-out allele exhibit longer latency to move in haloperidol-treated mice and mild hyperactivity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    63
  • GO References
    9
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
    755
  • Tissues
    47
  • cDNA Data
    26
  • Literature Summary
    5
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000058248 Ensembl Gene Model | MGI Sequence Detail 319386 C57BL/6J ±  kb
transcript ENSMUST00000078470 Ensembl | MGI Sequence Detail 7242 Not Applicable  
polypeptide ENSMUSP00000077563 Ensembl | MGI Sequence Detail 989 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 29
    Genomic 1
    cDNA 26
    Primer pair 2

    Microarray probesets 4
References
more
  • Summaries
    All 42
    Developmental Gene Expression 5
    Gene Ontology 9
    Phenotypes 7
  • Earliest
    J:18517 Warmke JW, et al., A family of potassium channel genes related to eag in Drosophila and mammals. Proc Natl Acad Sci U S A. 1994 Apr 12;91(8):3438-42
  • Latest
    J:354049 Pulcrano S, et al., miR-218 Promotes Dopaminergic Differentiation and Controls Neuron Excitability and Neurotransmitter Release through the Regulation of a Synaptic-Related Genes Network. J Neurosci. 2023 Nov 29;43(48):8104-8125
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)
Citing These Resources
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