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Kcnh1
Gene Detail
Symbol

Name
ID
Kcnh1
potassium voltage-gated channel, subfamily H (eag-related), member 1
MGI:1341721
Synonyms
Eag1, ether a go-go, Kv10.1
Feature Type
protein coding gene
Genetic Map
Chromosome 1
97.33 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr1:192190774-192510159 bp, + strand
From VEGA annotation of GRCm38

  319386 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68242  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: KCNH1
Protein SuperFamily: potassium voltage-gated channel, subfamily H
Gene Tree: Kcnh1

Human
homologs
KCNH1, potassium channel, voltage gated eag related subfamily H, member 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 3756
neXtProt AC: NX_O95259

Human Synonyms: EAG, EAG1, h-eag, Kv10.1, TMBTS

Human Chr (Location): 1q32.2; chr1:210678314-211134115 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human KCNH1

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(2) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Kcnh1 interacts with 348 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (51 annotations)
Process cellular response to calcium ion, ion transmembrane transport, ...
Component axolemma, axon, ...
Function 14-3-3 protein binding, calmodulin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (49)    Tissues (47)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RT-PCR 49
cDNA source data(26)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN kcnh1a, kcnh1b    NEW 
Molecular
reagents
All nucleic(28) cDNA(26) Primer pair(2)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000024518 (Evidence)
Ensembl Gene Model ENSMUSG00000058248 (Evidence)
Entrez Gene 16510 (Evidence)
UniGene 4489
DFCI TC1580771, TC1595236, TC1604220, TC1674314
DoTS DT.110919476, DT.40157922, DT.55205745
NIA Mouse Gene Index U042248
PDB 4F8A, 4HOI, 4LLO
Consensus CDS Project CCDS15627.1, CCDS35826.1
International Mouse Phenotyping Consortium Status Kcnh1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024518 VEGA Gene Model | MGI Sequence Detail 319386 C57BL/6J ±  kb
transcript OTTMUST00000060175 VEGA | MGI Sequence Detail 7242 Not Applicable 
polypeptide OTTMUSP00000029345 VEGA | MGI Sequence Detail 989 Not Applicable 

For the selected sequences
All sequences(47) RefSeq(7) UniProt(6)
Polymorphisms
SNPs within 2kb(2938 from dbSNP Build 137)    SNPs within 2kb including multiple locations(2946)
Protein-related
information
ResourceIDDescription
InterPro IPR000595 Cyclic nucleotide-binding domain
InterPro IPR018490 Cyclic nucleotide-binding-like
InterPro IPR005821 Ion transport domain
InterPro IPR001610 PAC motif
InterPro IPR000700 PAS-associated, C-terminal
InterPro IPR000014 PAS domain
InterPro IPR003949 Potassium channel, voltage-dependent, EAG
InterPro IPR003938 Potassium channel, voltage-dependent, EAG/ELK/ERG
InterPro IPR030170 Potassium voltage-gated channel subfamily H member 1
InterPro IPR014710 RmlC-like jelly roll fold
Protein Ontology PR:000000790 voltage-gated potassium channel KCNH1
References
(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:210035 Jimenez-Garduno AM, et al., KV10.1 K(+)-channel plasma membrane discrete domain partitioning and its functional correlation in neurons. Biochim Biophys Acta. 2014 Mar;1838(3):921-31
All references(38)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory