Potassium voltage-gated channel subfamily H member 1

Details

Name

Potassium voltage-gated channel subfamily H member 1

Synonyms

• EAG
• EAG channel 1
• EAG1
• Ether-a-go-go potassium channel 1
• h-eag
• hEAG1
• Voltage-gated potassium channel subunit Kv10.1

Gene Name

KCNH1

UniProtKB Entry

O95259Swiss-Prot

Organism

Humans

NCBI Taxonomy ID

9606

Amino acid sequence

>lcl|BSEQ0008955|Potassium voltage-gated channel subfamily H member 1
MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEV
MQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRTPVWFFVKIAPIRNEQ
DKVVLFLCTFSDITAFKQPIEDDSCKGWGKFARLTRALTSSRGVLQQLAPSVQKGENVHK
HSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVS
FKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDL
LSCLPYDVINAFENVDEVSAFMGDPGKIGFADQIPPPLEGRESQGISSLFSSLKVVRLLR
LGRVARKLDHYIEYGAAVLVLLVCVFGLAAHWMACIWYSIGDYEIFDEDTKTIRNNSWLY
QLAMDIGTPYQFNGSGSGKWEGGPSKNSVYISSLYFTMTSLTSVGFGNIAPSTDIEKIFA
VAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHEMLNSVRDFLKLYQVPKGLSERVMDYI
VSTWSMSRGIDTEKVLQICPKDMRADICVHLNRKVFKEHPAFRLASDGCLRALAMEFQTV
HCAPGDLIYHAGESVDSLCFVVSGSLEVIQDDEVVAILGKGDVFGDVFWKEATLAQSCAN
VRALTYCDLHVIKRDALQKVLEFYTAFSHSFSRNLILTYNLRKRIVFRKISDVKREEEER
MKRKNEAPLILPPDHPVRRLFQRFRQQKEARLAAERGGRDLDDLDVEKGNVLTEHASANH
SLVKASVVTVRESPATPVSFQAASTSGVPDHAKLQAPGSECLGPKGGGGDCAKRKSWARF
KDACGKSEDWNKVSKAESMETLPERTKASGEATLKKTDSCDSGITKSDLRLDNVGEARSP
QDRSPILAEVKHSFYPIPEQTLQATVLEVRHELKEDIKALNAKMTNIEKQLSEILRILTS
RRSSQSPQELFEISRPQSPESERDIFGAS

Number of residues

989

Molecular Weight

111421.76

Theoretical pI

Not Available

GO Classification

Functions

calmodulin binding / phosphatidylinositol bisphosphate binding

Processes

regulation of cell population proliferation

Components

axon / intracellular membrane-bounded organelle / perikaryon / postsynaptic density membrane

General Function

Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel (PubMed:10880439, PubMed:11943152, PubMed:22732247, PubMed:25556795, PubMed:27005320, PubMed:27325704, PubMed:27618660, PubMed:9738473). Channel properties are modulated by subunit assembly (PubMed:11943152). Mediates IK(NI) current in myoblasts (PubMed:9738473). Involved in the regulation of cell proliferation and differentiation, in particular adipogenic and osteogenic differentiation in bone marrow-derived mesenchymal stem cells (MSCs) (PubMed:23881642)

Specific Function

Calmodulin binding

Pfam Domain Function

• Ion_trans (PF00520)
• cNMP_binding (PF00027)
• PAS_9 (PF13426)

Signal Regions

Not Available

Transmembrane Regions

221-241 249-269 291-309 346-368 378-399 478-498

Cellular Location

Cell membrane

Gene sequence

>lcl|BSEQ0021435|Potassium voltage-gated channel subfamily H member 1 (KCNH1)
ATGACCATGGCTGGGGGCAGGAGGGGACTAGTGGCCCCTCAAAACACGTTTCTGGAGAAT
ATTGTTCGGCGGTCCAATGATACTAATTTTGTGTTGGGGAATGCTCAGATAGTGGACTGG
CCTATTGTGTACAGCAATGATGGATTTTGCAAGCTGTCTGGCTATCACAGGGCAGAAGTG
ATGCAAAAAAGCAGCACCTGCAGTTTTATGTATGGGGAGCTGACTGATAAAGACACGATT
GAAAAAGTGCGGCAAACATTTGAGAACTATGAGATGAATTCCTTTGAAATTCTGATGTAC
AAGAAGAACAGGACACCTGTGTGGTTCTTTGTGAAAATTGCTCCAATTCGAAACGAACAG
GATAAAGTGGTTTTATTTCTTTGCACTTTCAGTGACATAACAGCTTTCAAACAGCCAATT
GAGGATGATTCATGTAAAGGCTGGGGGAAGTTTGCTCGGCTGACAAGAGCACTGACAAGC
AGCAGGGGTGTCCTGCAGCAGCTGGCTCCAAGCGTGCAAAAAGGCGAGAATGTCCACAAG
CACTCCCGCCTGGCAGAGGTCCTACAGCTGGGCTCAGACATCCTTCCCCAGTACAAGCAA
GAGGCACCAAAGACTCCCCCTCACATCATCTTACATTATTGTGTTTTTAAGACCACGTGG
GATTGGATCATCTTGATCTTGACCTTCTATACAGCCATCTTGGTCCCTTATAATGTCTCC
TTCAAAACCAGGCAGAATAATGTGGCCTGGCTGGTTGTTGATAGCATCGTGGATGTTATC
TTTTTGGTGGACATTGTGCTCAATTTTCATACCACCTTTGTTGGACCAGCAGGGGAGGTG
ATTTCTGACCCCAAACTTATCCGCATGAACTACCTGAAGACGTGGTTTGTGATTGACCTT
CTGTCCTGTTTGCCATATGATGTCATCAACGCTTTTGAGAACGTGGATGAGGGCATCAGC
AGCCTGTTCAGCTCTCTAAAAGTTGTCCGGCTGCTCCGTCTTGGGCGAGTGGCCCGTAAG
CTGGACCACTACATTGAATATGGAGCTGCTGTGCTGGTCCTGCTGGTGTGTGTGTTTGGG
CTGGCTGCACACTGGATGGCCTGCATCTGGTACAGCATTGGGGACTATGAGATCTTTGAC
GAGGACACCAAGACAATCCGCAACAACAGCTGGCTGTACCAACTAGCGATGGACATTGGC
ACCCCTTACCAGTTTAATGGGTCTGGCTCAGGGAAGTGGGAAGGTGGTCCCAGCAAGAAT
TCTGTCTACATCTCCTCGTTGTATTTCACAATGACCAGCCTCACCAGTGTGGGCTTTGGG
AACATCGCCCCATCCACAGACATTGAGAAGATCTTTGCAGTGGCCATCATGATGATTGGC
TCACTTCTCTATGCCACCATCTTCGGGAATGTGACGACTATTTTCCAACAGATGTATGCC
AACACCAACAGATACCATGAGATGCTCAACAGTGTTCGGGACTTCCTGAAGCTCTACCAG
GTGCCAAAAGGATTGAGTGAGCGAGTAATGGATTATATTGTGTCCACTTGGTCCATGTCC
AGAGGCATTGACACAGAGAAGGTCCTGCAGATCTGCCCCAAGGACATGAGAGCCGACATC
TGCGTGCACCTGAACCGCAAGGTGTTCAAGGAGCACCCGGCCTTCCGGCTGGCCAGTGAT
GGCTGCCTCCGGGCACTGGCCATGGAGTTCCAGACGGTGCACTGTGCCCCAGGGGACCTC
ATCTACCATGCAGGAGAGAGCGTTGACAGCCTCTGCTTTGTGGTTTCTGGCTCCCTGGAG
GTGATCCAAGATGATGAGGTGGTGGCCATTCTAGGAAAAGGAGACGTGTTTGGAGATGTG
TTCTGGAAGGAAGCCACCCTTGCCCAGTCCTGTGCCAATGTTAGGGCCTTGACCTACTGT
GATCTGCATGTGATCAAGCGGGATGCCCTGCAGAAAGTGCTGGAATTCTACACGGCCTTC
TCCCATTCCTTCTCCCGGAACCTGATTCTGACGTACAACTTGAGGAAGAGGATTGTGTTC
CGGAAGATCAGCGATGTGAAACGTGAAGAGGAAGAACGCATGAAACGAAAGAATGAGGCC
CCCCTGATCTTGCCCCCGGACCACCCTGTCCGGCGCCTCTTCCAGAGATTCCGACAGCAG
AAAGAGGCCAGGCTGGCAGCTGAGAGAGGGGGCCGGGACCTGGATGACCTAGATGTGGAG
AAGGGCAATGTCCTTACAGAGCATGCCTCCGCCAACCACAGCCTCGTGAAGGCCAGCGTG
GTCACCGTGCGTGAGAGTCCTGCCACGCCCGTATCCTTCCAGGCAGCCTCCACCTCCGGG
GTGCCAGACCACGCAAAGCTACAGGCGCCAGGGTCCGAGTGCCTGGGCCCCAAGGGGGGC
GGGGGCGATTGTGCCAAGCGCAAAAGCTGGGCCCGCTTCAAAGATGCTTGCGGGAAGAGT
GAGGACTGGAACAAGGTGTCCAAGGCTGAGTCGATGGAGACACTTCCCGAGAGGACAAAA
GCGTCAGGCGAGGCCACACTGAAGAAGACAGACTCGTGTGACAGTGGCATCACCAAGAGC
GACTTGCGCCTGGACAACGTGGGTGAGGCCAGGAGTCCCCAGGATCGGAGTCCCATCCTG
GCAGAGGTCAAGCATTCGTTCTACCCCATCCCTGAGCAGACGCTGCAGGCCACAGTCCTG
GAGGTGAGGCACGAGCTGAAGGAGGACATCAAGGCCTTAAACGCCAAAATGACCAATATT
GAGAAACAGCTCTCTGAGATACTCAGGATATTAACTTCCAGAAGATCCTCTCAGTCTCCT
CAGGAGTTGTTTGAAATATCGAGGCCACAGTCCCCAGAATCAGAGAGAGACATTTTTGGA
GCCAGCTGA

Chromosome Location

1

Locus

1q32.2

External Identifiers

Resource	Link
UniProtKB ID	O95259
UniProtKB Entry Name	KCNH1_HUMAN
GeneCard ID	KCNH1
HGNC ID	HGNC:6250
PDB ID(s)	5J7E
KEGG ID	hsa:3756
IUPHAR/Guide To Pharmacology ID	570
NCBI Gene ID	3756

General References

1. Occhiodoro T, Bernheim L, Liu JH, Bijlenga P, Sinnreich M, Bader CR, Fischer-Lougheed J: Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion. FEBS Lett. 1998 Aug 28;434(1-2):177-82. [Article]
2. Pardo LA, del Camino D, Sanchez A, Alves F, Bruggemann A, Beckh S, Stuhmer W: Oncogenic potential of EAG K(+) channels. EMBO J. 1999 Oct 15;18(20):5540-7. [Article]
3. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [Article]
4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
5. Schonherr R, Lober K, Heinemann SH: Inhibition of human ether a go-go potassium channels by Ca(2+)/calmodulin. EMBO J. 2000 Jul 3;19(13):3263-71. [Article]
6. Schonherr R, Gessner G, Lober K, Heinemann SH: Functional distinction of human EAG1 and EAG2 potassium channels. FEBS Lett. 2002 Mar 13;514(2-3):204-8. [Article]
7. Chen Y, Sanchez A, Rubio ME, Kohl T, Pardo LA, Stuhmer W: Functional K(v)10.1 channels localize to the inner nuclear membrane. PLoS One. 2011 May 3;6(5):e19257. doi: 10.1371/journal.pone.0019257. [Article]
8. Ninkovic M, Mitkovski M, Kohl T, Stuhmer W, Pardo LA: Physical and functional interaction of KV10.1 with Rabaptin-5 impacts ion channel trafficking. FEBS Lett. 2012 Sep 21;586(19):3077-84. doi: 10.1016/j.febslet.2012.07.055. Epub 2012 Jul 25. [Article]
9. Herrmann S, Ninkovic M, Kohl T, Lorinczi E, Pardo LA: Cortactin controls surface expression of the voltage-gated potassium channel K(V)10.1. J Biol Chem. 2012 Dec 28;287(53):44151-63. doi: 10.1074/jbc.M112.372540. Epub 2012 Nov 9. [Article]
10. Marques-Carvalho MJ, Sahoo N, Muskett FW, Vieira-Pires RS, Gabant G, Cadene M, Schonherr R, Morais-Cabral JH: Structural, biochemical, and functional characterization of the cyclic nucleotide binding homology domain from the mouse EAG1 potassium channel. J Mol Biol. 2012 Oct 12;423(1):34-46. doi: 10.1016/j.jmb.2012.06.025. Epub 2012 Jun 23. [Article]
11. Zhang YY, Yue J, Che H, Sun HY, Tse HF, Li GR: BKCa and hEag1 channels regulate cell proliferation and differentiation in human bone marrow-derived mesenchymal stem cells. J Cell Physiol. 2014 Feb;229(2):202-12. doi: 10.1002/jcp.24435. [Article]
12. Schlichter LC, Jiang J, Wang J, Newell EW, Tsui FW, Lam D: Regulation of hERG and hEAG channels by Src and by SHP-1 tyrosine phosphatase via an ITIM region in the cyclic nucleotide binding domain. PLoS One. 2014 Feb 28;9(2):e90024. doi: 10.1371/journal.pone.0090024. eCollection 2014. [Article]
13. Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nat Genet. 2015 Jan;47(1):73-7. doi: 10.1038/ng.3153. Epub 2014 Nov 24. [Article]
14. Kortum F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K: Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nat Genet. 2015 Jun;47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27. [Article]

Associated Data

Bio-Entities

Bio-Entity	Type
Potassium voltage-gated channel subfamily H member 1 (Humans)	protein primary
Voltage-gated Potassium Channels	protein

Drug Relations

Drug	Drug group	Pharmacological action?	Type	Actions	Details
Astemizole	approved, withdrawn	unknown	target		Details
Imipramine	approved	unknown	target		Details
Enflurane	approved, investigational, vet_approved	unknown	target	inhibitoractivator	Details
Promethazine	approved, investigational	unknown	target	inducer	Details
Miconazole	approved, investigational, vet_approved	unknown	target	inhibitor	Details