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KCNH1 (potassium voltage-gated channel, subfamily H (eag-related), member 1)

Written2008-01Luis A Pardo
Max-Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany

(Note : for Links provided by Atlas : click)

Identity

Alias_namespotassium voltage-gated channel
Alias_symbol (synonym)Kv10.1
eag
h-eag
eag1
Other aliasEAG
EAG1
ether a go-go
MGC142269
HGNC (Hugo) KCNH1
LocusID (NCBI) 3756
Atlas_Id 41048
Location 1q32.2  [Link to chromosome band 1q32]
Location_base_pair Starts at 210678315 and ends at 211134115 bp from pter ( according to hg19-Feb_2009)  [Mapping KCNH1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ASAP1 (8q24.21) / KCNH1 (1q32.2)HHAT (1q32.2) / KCNH1 (1q32.2)KCNH1 (1q32.2) / LPGAT1 (1q32.3)
RPS6KC1 (1q32.3) / KCNH1 (1q32.2)

DNA/RNA

Description 450 Kb, 11 exons.
Transcription Main RNA species with 9Kb. An alternatively spliced variant with 81 additional bp.

Protein

Description Tetramer consisting of subunits with 969 aminoacids each. The protein contains a PAS domain at the N-terminus, "Channel" domain with typical features of K channels (six putatively transmembrane segments and a pore loop between fifth and sixth). Large C-terminal domain with cyclic-nucleotide-binding domain, calmodulin binding site, tetramerizing coiled-coil. The sequence has many potential posttranslational modification sites, but only glycosylation has been reported.
Expression Abundant in many brain regions, virtually absent from extracranial tissues. Detected in gastric gland chief cells, pancreatic acini, spermatogenic cells, endocervix, secretory endometrium, reactive lymph nodes (germinal centre), mast cells, macrophages, anterior pituitary, adrenal gland.
Localisation Plasma membrane. Abundant in intracellular pools both in neurons and tumor cells.
Function Voltage-gated potassium channel.
Homology Homologous to the "six-transmembrane, one pore" potassium channel superfamily.

Implicated in

Note
  
Entity Sarcomas (71% positivity).
Disease Fibrosarcoma, leiomyosarcoma, liposarcoma, malignant fibrous histiocytoma, rhabdomyosarcoma, synovial sarcoma.
Prognosis Indicative of worse outcome in liposarcoma.
  
  
Entity Solid epithelial tumors (70% positivity).
Disease Esophageal, gastric, colon, hepatocellular, gallbladder, pancreatic, renal cell, transitional, prostate, cervical, endometrial, breast and bronchus carcinoma ; cystadenocarcinoma of the ovary, thyroid papillary carcinoma, basalioma, spinalioma, malignant melanoma.
  

Bibliography

Physiology of EAG K+ channels.
Bauer CK, Schwarz JR
The Journal of membrane biology. 2001 ; 182 (1) : 1-15.
PMID 11426295
 
An ether -à-go-go K+ current, Ih-eag, contributes to the hyperpolarization of human fusion-competent myoblasts.
Bijlenga P, Occhiodoro T, Liu JH, Bader CR, Bernheim L, Fischer-Lougheed J
The Journal of physiology. 1998 ; 512 ( Pt 2) : 317-323.
PMID 9763622
 
Aberrant expression of ether à go-go potassium channel in colorectal cancer patients and cell lines.
Ding XW, Yan JJ, An P, Lü P, Luo HS
World journal of gastroenterology : WJG. 2007 ; 13 (8) : 1257-1261.
PMID 17451210
 
Ether a go-go potassium channels as human cervical cancer markers.
Farias LM, Ocaña DB, Díaz L, Larrea F, Avila-Ch´vez E, Cadena A, Hinojosa LM, Lara G, Villanueva LA, Vargas C, Hern´ndez-Gallegos E, Camacho-Arroyo I, Dueñas-González A, Pérez-Cárdenas E, Pardo LA, Morales A, Taja-Chayeb L, Escamilla J, Sánchez-Peéa C, Camacho J
Cancer research. 2004 ; 64 (19) : 6996-7001.
PMID 15466192
 
Monoclonal antibody blockade of the human Eag1 potassium channel function exerts antitumor activity.
Gómez-Varela D, Zwick-Wallasch E, Knötgen H, S´nchez A, Hettmann T, Ossipov D, Weseloh R, Contreras-Jurado C, Rothe M, Stühmer W, Pardo LA
Cancer research. 2007 ; 67 (15) : 7343-7349.
PMID 17671204
 
Effects of imipramine on ion channels and proliferation of IGR1 melanoma cells.
Gavrilova-Ruch O, Schönherr K, Gessner G, Schönherr R, Klapperstück T, Wohlrab W, Heinemann SH
The Journal of membrane biology. 2002 ; 188 (2) : 137-149.
PMID 12172639
 
Overexpression of Eag1 potassium channels in clinical tumours.
Hemmerlein B, Weseloh RM, Mello de Queiroz F, Knötgen H, S´nchez A, Rubio ME, Martin S, Schliephacke T, Jenke M, Heinz-Joachim-Radzun, Stühmer W, Pardo LA
Molecular cancer. 2006 ; 5 : page 41.
PMID 17022810
 
C-terminal domains implicated in the functional surface expression of potassium channels.
Jenke M, S´nchez A, Monje F, Stühmer W, Weseloh RM, Pardo LA
The EMBO journal. 2003 ; 22 (3) : 395-403.
PMID 12554641
 
Carboxy-terminal domain mediates assembly of the voltage-gated rat ether-à-go-go potassium channel.
Ludwig J, Owen D, Pongs O
The EMBO journal. 1997 ; 16 (21) : 6337-6345.
PMID 9400421
 
Functional expression of a rat homologue of the voltage gated either ´ go-go potassium channel reveals differences in selectivity and activation kinetics between the Drosophila channel and its mammalian counterpart.
Ludwig J, Terlau H, Wunder F, Brüggemann A, Pardo LA, Marquardt A, Stühmer W, Pongs O
The EMBO journal. 1994 ; 13 (19) : 4451-4458.
PMID 7925287
 
Ether à go-go potassium channel expression in soft tissue sarcoma patients.
Mello de Queiroz F, Suarez-Kurtz G, Stühmer W, Pardo LA
Molecular cancer. 2006 ; 5 : page 42.
PMID 17022811
 
Glycosylation of Eag1 (Kv10.1) potassium channels: intracellular trafficking and functional consequences.
Napp J, Monje F, Stühmer W, Pardo LA
The Journal of biological chemistry. 2005 ; 280 (33) : 29506-29512.
PMID 15964838
 
Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion.
Occhiodoro T, Bernheim L, Liu JH, Bijlenga P, Sinnreich M, Bader CR, Fischer-Lougheed J
FEBS letters. 1998 ; 434 (1-2) : 177-182.
PMID 9738473
 
Changes in the K+ current-density of MCF-7 cells during progression through the cell cycle: possible involvement of a h-ether.a-gogo K+ channel.
Ouadid-Ahidouch H, Le Bourhis X, Roudbaraki M, Toillon RA, Delcourt P, Prevarskaya N
Receptors & channels. 2001 ; 7 (5) : 345-356.
PMID 11697078
 
Cell cycle-related changes in the conducting properties of r-eag K+ channels.
Pardo LA, Brüggemann A, Camacho J, Stühmer W
The Journal of cell biology. 1998 ; 143 (3) : 767-775.
PMID 9813096
 
Oncogenic potential of EAG K(+) channels.
Pardo LA, del Camino D, S´nchez A, Alves F, Brüggemann A, Beckh S, Stühmer W
The EMBO journal. 1999 ; 18 (20) : 5540-5547.
PMID 10523298
 
Expression of ether à go-go potassium channels in human gliomas.
Patt S, Preussat K, Beetz C, Kraft R, Schrey M, Kalff R, Schönherr K, Heinemann SH
Neuroscience letters. 2004 ; 368 (3) : 249-253.
PMID 15364405
 
Inhibition of human ether à go-go potassium channels by Ca(2+)/calmodulin.
Schönherr R, Löber K, Heinemann SH
The EMBO journal. 2000 ; 19 (13) : 3263-3271.
PMID 10880439
 
Voltage-gated K+ channels support proliferation of colonic carcinoma cells.
Spitzner M, Ousingsawat J, Scheidt K, Kunzelmann K, Schreiber R
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2007 ; 21 (1) : 35-44.
PMID 17135369
 
A distinct potassium channel polypeptide encoded by the Drosophila eag locus.
Warmke J, Drysdale R, Ganetzky B
Science (New York, N.Y.). 1991 ; 252 (5012) : 1560-1562.
PMID 1840699
 
Silencing the activity and proliferative properties of the human EagI Potassium Channel by RNA Interference.
Weber C, Mello de Queiroz F, Downie BR, Suckow A, Stühmer W, Pardo LA
The Journal of biological chemistry. 2006 ; 281 (19) : 13030-13037.
PMID 16537547
 
Inhibition of human ether à go-go potassium channels by Ca2+/calmodulin binding to the cytosolic N- and C-termini.
Ziechner U, Schönherr R, Born AK, Gavrilova-Ruch O, Glaser RW, Malesevic M, Küllertz G, Heinemann SH
The FEBS journal. 2006 ; 273 (5) : 1074-1086.
PMID 16478480
 

Citation

This paper should be referenced as such :
Pardo, LA
KCNH1 (potassium voltage-gated channel, subfamily H (eag-related), member 1)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(5):371-372.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/KCNH1ID41048ch1q32.html


External links

Nomenclature
HGNC (Hugo)KCNH1   6250
Cards
AtlasKCNH1ID41048ch1q32
Entrez_Gene (NCBI)KCNH1  3756  potassium voltage-gated channel subfamily H member 1
AliasesEAG; EAG1; Kv10.1; TMBTS; 
ZLS1; h-eag; hEAG1
GeneCards (Weizmann)KCNH1
Ensembl hg19 (Hinxton)ENSG00000143473 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143473 [Gene_View]  chr1:210678315-211134115 [Contig_View]  KCNH1 [Vega]
ICGC DataPortalENSG00000143473
TCGA cBioPortalKCNH1
AceView (NCBI)KCNH1
Genatlas (Paris)KCNH1
WikiGenes3756
SOURCE (Princeton)KCNH1
Genetics Home Reference (NIH)KCNH1
Genomic and cartography
GoldenPath hg38 (UCSC)KCNH1  -     chr1:210678315-211134115 -  1q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNH1  -     1q32.2   [Description]    (hg19-Feb_2009)
EnsemblKCNH1 - 1q32.2 [CytoView hg19]  KCNH1 - 1q32.2 [CytoView hg38]
Mapping of homologs : NCBIKCNH1 [Mapview hg19]  KCNH1 [Mapview hg38]
OMIM135500   603305   611816   
Gene and transcription
Genbank (Entrez)AF078741 AF078742 AJ001366 AK127526 BC113709
RefSeq transcript (Entrez)NM_002238 NM_172362
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNH1
Cluster EST : UnigeneHs.553187 [ NCBI ]
CGAP (NCI)Hs.553187
Alternative Splicing GalleryENSG00000143473
Gene ExpressionKCNH1 [ NCBI-GEO ]   KCNH1 [ EBI - ARRAY_EXPRESS ]   KCNH1 [ SEEK ]   KCNH1 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3756
GTEX Portal (Tissue expression)KCNH1
Human Protein AtlasENSG00000143473-KCNH1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95259   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95259  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95259
Splice isoforms : SwissVarO95259
PhosPhoSitePlusO95259
Domaine pattern : Prosite (Expaxy)CNMP_BINDING_3 (PS50042)    PAC (PS50113)    PAS (PS50112)   
Domains : Interpro (EBI)cNMP-bd-like    cNMP-bd_dom    Ion_trans_dom    K_chnl_volt-dep_EAG    K_chnl_volt-dep_EAG/ELK/ERG    PAC    PAS    PAS-assoc_C    RmlC-like_jellyroll   
Domain families : Pfam (Sanger)cNMP_binding (PF00027)    Ion_trans (PF00520)    PAS_9 (PF13426)   
Domain families : Pfam (NCBI)pfam00027    pfam00520    pfam13426   
Domain families : Smart (EMBL)cNMP (SM00100)  PAC (SM00086)  
Conserved Domain (NCBI)KCNH1
DMDM Disease mutations3756
Blocks (Seattle)KCNH1
PDB (SRS)5J7E   
PDB (PDBSum)5J7E   
PDB (IMB)5J7E   
PDB (RSDB)5J7E   
Structural Biology KnowledgeBase5J7E   
SCOP (Structural Classification of Proteins)5J7E   
CATH (Classification of proteins structures)5J7E   
SuperfamilyO95259
Human Protein Atlas [tissue]ENSG00000143473-KCNH1 [tissue]
Peptide AtlasO95259
HPRD04492
IPIIPI00098591   IPI00221201   
Protein Interaction databases
DIP (DOE-UCLA)O95259
IntAct (EBI)O95259
FunCoupENSG00000143473
BioGRIDKCNH1
STRING (EMBL)KCNH1
ZODIACKCNH1
Ontologies - Pathways
QuickGOO95259
Ontology : AmiGOphosphorelay sensor kinase activity  phosphorelay signal transduction system  startle response  delayed rectifier potassium channel activity  protein binding  calmodulin binding  nuclear inner membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  potassium ion transport  myoblast fusion  voltage-gated potassium channel complex  cell surface  postsynaptic density  protein kinase binding  signal transduction by protein phosphorylation  cell junction  dendrite  cyclic nucleotide binding  axolemma  early endosome membrane  regulation of ion transmembrane transport  regulation of cell proliferation  regulation of membrane potential  presynaptic membrane  identical protein binding  perikaryon  intracellular membrane-bounded organelle  ion channel binding  postsynaptic membrane  protein heterodimerization activity  phosphatidylinositol-mediated signaling  perinuclear region of cytoplasm  cellular response to calcium ion  potassium ion transmembrane transport  14-3-3 protein binding  phosphatidylinositol bisphosphate binding  
Ontology : EGO-EBIphosphorelay sensor kinase activity  phosphorelay signal transduction system  startle response  delayed rectifier potassium channel activity  protein binding  calmodulin binding  nuclear inner membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  potassium ion transport  myoblast fusion  voltage-gated potassium channel complex  cell surface  postsynaptic density  protein kinase binding  signal transduction by protein phosphorylation  cell junction  dendrite  cyclic nucleotide binding  axolemma  early endosome membrane  regulation of ion transmembrane transport  regulation of cell proliferation  regulation of membrane potential  presynaptic membrane  identical protein binding  perikaryon  intracellular membrane-bounded organelle  ion channel binding  postsynaptic membrane  protein heterodimerization activity  phosphatidylinositol-mediated signaling  perinuclear region of cytoplasm  cellular response to calcium ion  potassium ion transmembrane transport  14-3-3 protein binding  phosphatidylinositol bisphosphate binding  
REACTOMEO95259 [protein]
REACTOME PathwaysR-HSA-1296072 [pathway]   
NDEx NetworkKCNH1
Atlas of Cancer Signalling NetworkKCNH1
Wikipedia pathwaysKCNH1
Orthology - Evolution
OrthoDB3756
GeneTree (enSembl)ENSG00000143473
Phylogenetic Trees/Animal Genes : TreeFamKCNH1
HOVERGENO95259
HOGENOMO95259
Homologs : HomoloGeneKCNH1
Homology/Alignments : Family Browser (UCSC)KCNH1
Gene fusions - Rearrangements
Fusion : MitelmanASAP1/KCNH1 [8q24.21/1q32.2]  [t(1;8)(q32;q24)]  
Fusion : MitelmanKCNH1/LPGAT1 [1q32.2/1q32.3]  [t(1;1)(q32;q32)]  
Fusion: TCGA_MDACCASAP1 8q24.21 KCNH1 1q32.2 BRCA
Fusion: TCGA_MDACCKCNH1 1q32.2 LPGAT1 1q32.3 BRCA
Tumor Fusion PortalKCNH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNH1
dbVarKCNH1
ClinVarKCNH1
1000_GenomesKCNH1 
Exome Variant ServerKCNH1
ExAC (Exome Aggregation Consortium)ENSG00000143473
GNOMAD BrowserENSG00000143473
Genetic variants : HAPMAP3756
Genomic Variants (DGV)KCNH1 [DGVbeta]
DECIPHERKCNH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNH1 
Mutations
ICGC Data PortalKCNH1 
TCGA Data PortalKCNH1 
Broad Tumor PortalKCNH1
OASIS PortalKCNH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNH1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KCNH1
DgiDB (Drug Gene Interaction Database)KCNH1
DoCM (Curated mutations)KCNH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNH1 (select a term)
intoGenKCNH1
NCG5 (London)KCNH1
Cancer3DKCNH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM135500    603305    611816   
Orphanet3052    23113   
DisGeNETKCNH1
MedgenKCNH1
Genetic Testing Registry KCNH1
NextProtO95259 [Medical]
TSGene3756
GENETestsKCNH1
Target ValidationKCNH1
Huge Navigator KCNH1 [HugePedia]
snp3D : Map Gene to Disease3756
BioCentury BCIQKCNH1
ClinGenKCNH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3756
Chemical/Pharm GKB GenePA30037
Clinical trialKCNH1
Miscellaneous
canSAR (ICR)KCNH1 (select the gene name)
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNH1
EVEXKCNH1
GoPubMedKCNH1
iHOPKCNH1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:53:53 CET 2017

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