Atlas of Genetics and Cytogenetics in Oncology and Haematology


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

Identity

Other namesEAG
EAG1
ether a go-go
h-eag
Kv10.1
MGC142269
HGNC KCNH1
Location 1q32.2
Location_base_pair Starts at 208918280 and ends at 209374080 bp from pter (hg18-Mar_2006).

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

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.
  

External links

Nomenclature
HGNCKCNH1   6250
Entrez_GeneKCNH1  3756  potassium voltage-gated channel, subfamily H (eag-related), member 1
Cards
AtlasKCNH1ID41048ch1q32
GeneCardsKCNH1
EnsemblKCNH1 [Search_View]   ENSG00000143473 [Gene_View]
GenatlasKCNH1
GeneLynxKCNH1
eGenomeKCNH1
euGene3756
Genomic and cartography
GoldenPathKCNH1  -  1q32.2   chr1:208918280-209374080 -  1q32.2   [Description]    (hg18-Mar_2006)
EnsemblKCNH1 - 1q32.2 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneKCNH1
Gene and transcription
GenbankAF078741 [ ENTREZ ]
GenbankAF078742 [ ENTREZ ]
GenbankAJ001366 [ ENTREZ ]
GenbankBC113709 [ ENTREZ ]
RefSeqNM_002238 [ SRS ]    NM_002238 [ ENTREZ ]
RefSeqNM_172362 [ SRS ]    NM_172362 [ ENTREZ ]
RefSeqAC_000044 [ SRS ]    AC_000044 [ ENTREZ ]
RefSeqAC_000133 [ SRS ]    AC_000133 [ ENTREZ ]
RefSeqNC_000001 [ SRS ]    NC_000001 [ ENTREZ ]
RefSeqNT_021877 [ SRS ]    NT_021877 [ ENTREZ ]
RefSeqNW_001838537 [ SRS ]    NW_001838537 [ ENTREZ ]
RefSeqNW_926794 [ SRS ]    NW_926794 [ ENTREZ ]
AceViewKCNH1 AceView - NCBI
UnigeneHs.662282 [ SRS ]    Hs.662282 [ NCBI ]     HS662282 [ spliceNest ]
Fast-db17804 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtO95259 [ SRS]    O95259 [ EXPASY ]     O95259 [ INTERPRO ]     O95259 [ UNIPROT ]
PrositePS00888 CNMP_BINDING_1 [ SRS ]    PS00888 CNMP_BINDING_1 [ Expasy ]
PrositePS00889 CNMP_BINDING_2 [ SRS ]    PS00889 CNMP_BINDING_2 [ Expasy ]
PrositePS50042 CNMP_BINDING_3 [ SRS ]    PS50042 CNMP_BINDING_3 [ Expasy ]
PrositePS50113 PAC [ SRS ]    PS50113 PAC [ Expasy ]
PrositePS50112 PAS [ SRS ]    PS50112 PAS [ Expasy ]
InterproIPR000595 cNMP_bd [ SRS ]    IPR000595 cNMP_bd [ EBI ]
InterproIPR005821 Ion_trans [ SRS ]    IPR005821 Ion_trans [ EBI ]
InterproIPR003949 K_chnl_volt-dep_EAG [ SRS ]    IPR003949 K_chnl_volt-dep_EAG [ EBI ]
InterproIPR003938 K_chnl_volt-dep_EAG/ELK/ERG [ SRS ]    IPR003938 K_chnl_volt-dep_EAG/ELK/ERG [ EBI ]
InterproIPR001610 PAC [ SRS ]    IPR001610 PAC [ EBI ]
InterproIPR000014 PAS [ SRS ]    IPR000014 PAS [ EBI ]
InterproIPR000700 PAS-assoc_C [ SRS ]    IPR000700 PAS-assoc_C [ EBI ]
InterproIPR013655 PAS_3 [ SRS ]    IPR013655 PAS_3 [ EBI ]
InterproIPR014710 RmlC-like_jellyroll [ SRS ]    IPR014710 RmlC-like_jellyroll [ EBI ]
CluSTrO95259
PfamPF00027 cNMP_binding [ SRS ]    PF00027 cNMP_binding [ Sanger ]    pfam00027 [ NCBI-CDD ]
PfamPF00520 Ion_trans [ SRS ]    PF00520 Ion_trans [ Sanger ]    pfam00520 [ NCBI-CDD ]
PfamPF08447 PAS_3 [ SRS ]    PF08447 PAS_3 [ Sanger ]    pfam08447 [ NCBI-CDD ]
SmartSM00100 cNMP [EMBL]
SmartSM00086 PAC [EMBL]
SmartSM00091 PAS [EMBL]
BlocksO95259
HPRD04492
Protein Interaction databases
DIPO95259
IntActO95259
Polymorphism : SNP, mutations, diseases
OMIM603305    [ map ]   
GENECLINICS603305
SNPKCNH1 [dbSNP-NCBI]  
SNPNM_002238 [SNP-NCI]  
SNPNM_172362 [SNP-NCI]  
SNPKCNH1 [GeneSNPs - Utah]  KCNH1] [HGBASE - SRS]
HAPMAPKCNH1 [HAPMAP]  
HGMDKCNH1
General knowledge
Family BrowserKCNH1 [UCSC Family Browser]
SOURCENM_002238
SOURCENM_172362
SMDHs.662282
SAGEHs.662282
GOtwo-component sensor activity [Amigo]  two-component sensor activity
GOtwo-component signal transduction system (phosphorelay) [Amigo]  two-component signal transduction system (phosphorelay)
GOvoltage-gated ion channel activity [Amigo]  voltage-gated ion channel activity
GOdelayed rectifier potassium channel activity [Amigo]  delayed rectifier potassium channel activity
GOcalmodulin binding [Amigo]  calmodulin binding
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOion transport [Amigo]  ion transport
GOpotassium ion transport [Amigo]  potassium ion transport
GOmyoblast fusion [Amigo]  myoblast fusion
GOvoltage-gated potassium channel complex [Amigo]  voltage-gated potassium channel complex
GOmembrane [Amigo]  membrane
GOintegral to membrane [Amigo]  integral to membrane
GOpotassium ion binding [Amigo]  potassium ion binding
PubGeneKCNH1
TreeFamKCNH1
CTD3756 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeKCNH1 Related clones (RZPD - Berlin)
PubMed
PubMed20 Pubmed reference(s) in Entrez

Bibliography

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
 
Functional expression of a rat homologue of the voltage gated either ˆ° 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, Brˆºggemann A, Pardo LA, Marquardt A, Stˆºhmer W, Pongs O
The EMBO journal. 1994 ; 13 (19) : 4451-4458.
PMID 7925287
 
Functional expression of a rat homologue of the voltage gated either ˆ° 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, Brˆºggemann A, Pardo LA, Marquardt A, Stˆºhmer W, Pongs O
The EMBO journal. 1994 ; 13 (19) : 4451-4458.
PMID 7925287
 
Functional expression of a rat homologue of the voltage gated either ˆ° 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, Brˆºggemann A, Pardo LA, Marquardt A, Stˆºhmer W, Pongs O
The EMBO journal. 1994 ; 13 (19) : 4451-4458.
PMID 7925287
 
Functional expression of a rat homologue of the voltage gated either ˆ° 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, Brˆºggemann A, Pardo LA, Marquardt A, Stˆºhmer W, Pongs O
The EMBO journal. 1994 ; 13 (19) : 4451-4458.
PMID 7925287
 
Carboxy-terminal domain mediates assembly of the voltage-gated rat ether-ˆÝ-go-go potassium channel.
Ludwig J, Owen D, Pongs O
The EMBO journal. 1997 ; 16 (21) : 6337-6345.
PMID 9400421
 
An ether -ˆÝ-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
 
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
 
Cell cycle-related changes in the conducting properties of r-eag K+ channels.
Pardo LA, Brˆºggemann A, Camacho J, Stˆºhmer W
The Journal of cell biology. 1998 ; 143 (3) : 767-775.
PMID 9813096
 
Oncogenic potential of EAG K(+) channels.
Pardo LA, del Camino D, Sˆ°nchez A, Alves F, Brˆºggemann A, Beckh S, Stˆºhmer W
The EMBO journal. 1999 ; 18 (20) : 5540-5547.
PMID 10523298
 
Inhibition of human ether ˆÝ go-go potassium channels by Ca(2+)/calmodulin.
Schˆnherr R, Lˆber K, Heinemann SH
The EMBO journal. 2000 ; 19 (13) : 3263-3271.
PMID 10880439
 
Physiology of EAG K+ channels.
Bauer CK, Schwarz JR
The Journal of membrane biology. 2001 ; 182 (1) : 1-15.
PMID 11426295
 
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
 
Effects of imipramine on ion channels and proliferation of IGR1 melanoma cells.
Gavrilova-Ruch O, Schˆnherr K, Gessner G, Schˆnherr R, Klapperstˆºck T, Wohlrab W, Heinemann SH
The Journal of membrane biology. 2002 ; 188 (2) : 137-149.
PMID 12172639
 
C-terminal domains implicated in the functional surface expression of potassium channels.
Jenke M, Sˆ°nchez A, Monje F, Stˆºhmer W, Weseloh RM, Pardo LA
The EMBO journal. 2003 ; 22 (3) : 395-403.
PMID 12554641
 
Ether a go-go potassium channels as human cervical cancer markers.
Farias LM, Ocaˆ±a DB, Dˆ‚az L, Larrea F, Avila-Chˆ°vez E, Cadena A, Hinojosa LM, Lara G, Villanueva LA, Vargas C, Hernˆ°ndez-Gallegos E, Camacho-Arroyo I, Dueˆ±as-Gonzˆ°lez A, Pˆ©rez-Cˆ°rdenas E, Pardo LA, Morales A, Taja-Chayeb L, Escamilla J, Sˆ°nchez-Peˆ±a C, Camacho J
Cancer research. 2004 ; 64 (19) : 6996-7001.
PMID 15466192
 
Expression of ether ˆÝ go-go potassium channels in human gliomas.
Patt S, Preussat K, Beetz C, Kraft R, Schrey M, Kalff R, Schˆnherr K, Heinemann SH
Neuroscience letters. 2004 ; 368 (3) : 249-253.
PMID 15364405
 
Glycosylation of Eag1 (Kv10.1) potassium channels: intracellular trafficking and functional consequences.
Napp J, Monje F, Stˆºhmer W, Pardo LA
The Journal of biological chemistry. 2005 ; 280 (33) : 29506-29512.
PMID 15964838
 
Overexpression of Eag1 potassium channels in clinical tumours.
Hemmerlein B, Weseloh RM, Mello de Queiroz F, Knˆtgen H, Sˆ°nchez A, Rubio ME, Martin S, Schliephacke T, Jenke M, Heinz-Joachim-Radzun, Stˆºhmer W, Pardo LA
Molecular cancer. 2006 ; 5 : page 41.
PMID 17022810
 
Ether ˆÝ go-go potassium channel expression in soft tissue sarcoma patients.
Mello de Queiroz F, Suarez-Kurtz G, Stˆºhmer W, Pardo LA
Molecular cancer. 2006 ; 5 : page 42.
PMID 17022811
 
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, Stˆºhmer W, Pardo LA
The Journal of biological chemistry. 2006 ; 281 (19) : 13030-13037.
PMID 16537547
 
Inhibition of human ether ˆÝ go-go potassium channels by Ca2+/calmodulin binding to the cytosolic N- and C-termini.
Ziechner U, Schˆnherr R, Born AK, Gavrilova-Ruch O, Glaser RW, Malesevic M, Kˆºllertz G, Heinemann SH
The FEBS journal. 2006 ; 273 (5) : 1074-1086.
PMID 16478480
 
Aberrant expression of ether ˆÝ go-go potassium channel in colorectal cancer patients and cell lines.
Ding XW, Yan JJ, An P, Lˆº P, Luo HS
World journal of gastroenterology : WJG. 2007 ; 13 (8) : 1257-1261.
PMID 17451210
 
Monoclonal antibody blockade of the human Eag1 potassium channel function exerts antitumor activity.
Gˆ„mez-Varela D, Zwick-Wallasch E, Knˆtgen H, Sˆ°nchez A, Hettmann T, Ossipov D, Weseloh R, Contreras-Jurado C, Rothe M, Stˆºhmer W, Pardo LA
Cancer research. 2007 ; 67 (15) : 7343-7349.
PMID 17671204
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written01-2008Luis A Pardo
Max-Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany

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. January 2008 .
URL : http://AtlasGeneticsOncology.org/Genes/KCNH1ID41048ch1q32.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Oct 11 12:52:50 2008


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