KCNH1 (potassium voltage-gated channel, subfamily H (eag-related), member 1)
2008-01-01 Luis A Pardo AffiliationMax-Planck Institute of Experimental Medicine, Hermann-Rein-Str. 3, 37075, Göttingen, Germany
Identity
HGNC
LOCATION
1q32.2
LOCUSID
ALIAS
EAG,EAG1,Kv10.1,TMBTS,ZLS1,h-eag,hEAG,hEAG1
FUSION GENES
DNA/RNA
Description
450 Kb, 11 exons.
Transcription
Main RNA species with 9Kb. An alternatively spliced variant with 81 additional bp.
Proteins
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 name
Sarcomas (71% positivity).
Disease
Fibrosarcoma, leiomyosarcoma, liposarcoma, malignant fibrous histiocytoma, rhabdomyosarcoma, synovial sarcoma.
Prognosis
Indicative of worse outcome in liposarcoma.
Entity name
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11426295 | 2001 | Physiology of EAG K+ channels. | Bauer CK et al |
| 9763622 | 1998 | An ether -à-go-go K+ current, Ih-eag, contributes to the hyperpolarization of human fusion-competent myoblasts. | Bijlenga P et al |
| 17451210 | 2007 | Aberrant expression of ether à go-go potassium channel in colorectal cancer patients and cell lines. | Ding XW et al |
| 15466192 | 2004 | Ether a go-go potassium channels as human cervical cancer markers. | Farias LM et al |
| 17671204 | 2007 | Monoclonal antibody blockade of the human Eag1 potassium channel function exerts antitumor activity. | Gómez-Varela D et al |
| 12172639 | 2002 | Effects of imipramine on ion channels and proliferation of IGR1 melanoma cells. | Gavrilova-Ruch O et al |
| 17022810 | 2006 | Overexpression of Eag1 potassium channels in clinical tumours. | Hemmerlein B et al |
| 12554641 | 2003 | C-terminal domains implicated in the functional surface expression of potassium channels. | Jenke M et al |
| 9400421 | 1997 | Carboxy-terminal domain mediates assembly of the voltage-gated rat ether-à-go-go potassium channel. | Ludwig J et al |
| 7925287 | 1994 | Functional expression of a rat homologue of the voltage gated either á go-go potassium channel reveals differences in selectivity and activation kinetics between the Drosophila channel and its mammalian counterpart. | Ludwig J et al |
| 17022811 | 2006 | Ether à go-go potassium channel expression in soft tissue sarcoma patients. | Mello de Queiroz F et al |
| 15964838 | 2005 | Glycosylation of Eag1 (Kv10.1) potassium channels: intracellular trafficking and functional consequences. | Napp J et al |
| 9738473 | 1998 | Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion. | Occhiodoro T et al |
| 11697078 | 2001 | 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 et al |
| 9813096 | 1998 | Cell cycle-related changes in the conducting properties of r-eag K+ channels. | Pardo LA et al |
| 10523298 | 1999 | Oncogenic potential of EAG K(+) channels. | Pardo LA et al |
| 15364405 | 2004 | Expression of ether à go-go potassium channels in human gliomas. | Patt S et al |
| 10880439 | 2000 | Inhibition of human ether à go-go potassium channels by Ca(2+)/calmodulin. | Schönherr R et al |
| 17135369 | 2007 | Voltage-gated K+ channels support proliferation of colonic carcinoma cells. | Spitzner M et al |
| 1840699 | 1991 | A distinct potassium channel polypeptide encoded by the Drosophila eag locus. | Warmke J et al |
| 16537547 | 2006 | Silencing the activity and proliferative properties of the human EagI Potassium Channel by RNA Interference. | Weber C et al |
| 16478480 | 2006 | Inhibition of human ether à go-go potassium channels by Ca2+/calmodulin binding to the cytosolic N- and C-termini. | Ziechner U et al |
Other Information
Locus ID:
NCBI: 3756
MIM: 603305
HGNC: 6250
Ensembl: ENSG00000143473
Variants:
dbSNP: 3756
ClinVar: 3756
TCGA: ENSG00000143473
COSMIC: KCNH1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Neuronal System | REACTOME | R-HSA-112316 |
| Potassium Channels | REACTOME | R-HSA-1296071 |
| Voltage gated Potassium channels | REACTOME | R-HSA-1296072 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36285361 | 2023 | Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations. | 3 |
| 36285361 | 2023 | Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations. | 3 |
| 33811134 | 2022 | Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. | 4 |
| 35396394 | 2022 | Hysteretic hERG channel gating current recorded at physiological temperature. | 1 |
| 35639255 | 2022 | Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis. | 4 |
| 33811134 | 2022 | Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. | 4 |
| 35396394 | 2022 | Hysteretic hERG channel gating current recorded at physiological temperature. | 1 |
| 35639255 | 2022 | Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis. | 4 |
| 33097858 | 2021 | EAG1 enhances hepatocellular carcinoma proliferation by modulating SKP2 and metastasis through pseudopod formation. | 7 |
| 33494179 | 2021 | Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases. | 7 |
| 33594261 | 2021 | Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies. | 16 |
| 33900765 | 2021 | Insights into the Molecular Inhibition of the Oncogenic Channel K(V)10.1 by Globular Toxins. | 1 |
| 34445705 | 2021 | Molecular Dynamics-Derived Pharmacophore Model Explaining the Nonselective Aspect of K(V)10.1 Pore Blockers. | 1 |
| 33097858 | 2021 | EAG1 enhances hepatocellular carcinoma proliferation by modulating SKP2 and metastasis through pseudopod formation. | 7 |
| 33494179 | 2021 | Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases. | 7 |
Citation
Luis A Pardo
KCNH1 (potassium voltage-gated channel, subfamily H (eag-related), member 1)
Atlas Genet Cytogenet Oncol Haematol. 2008-01-01
Online version: http://atlasgeneticsoncology.org/gene/41048/kcnh1-(potassium-voltage-gated-channel-subfamily-h-(eag-related)-member-1)
