Showing Protein Potassium voltage-gated channel subfamily A member 1 (HMDBP10840)

• 17130

1. Voltage-gated K(+) channel HuKI
2. Voltage-gated potassium channel HBK1
3. Voltage-gated potassium channel subunit Kv1.1

1. Membrane
2. Multi-pass membrane protein

>1488 bp
ATGACGGTGATGTCTGGGGAGAACGTGGACGAGGCTTCGGCCGCCCCGGGCCACCCCCAG
GATGGCAGCTACCCCCGGCAGGCCGACCACGACGACCACGAGTGCTGCGAGCGCGTGGTG
ATCAACATCTCCGGGCTGCGCTTCGAGACGCAGCTCAAGACCCTGGCGCAGTTCCCCAAC
ACGCTGCTGGGCAACCCTAAGAAACGCATGCGCTACTTCGACCCCCTGAGGAACGAGTAC
TTCTTCGACCGCAACCGGCCCAGCTTCGACGCCATCCTCTACTACTACCAGTCCGGCGGC
CGCCTGCGGAGGCCGGTCAACGTGCCCCTGGACATGTTCTCCGAGGAGATCAAGTTTTAC
GAGTTGGGCGAGGAGGCCATGGAGAAGTTCCGGGAGGACGAGGGCTTCATCAAGGAGGAG
GAGCGCCCTCTGCCCGAGAAGGAGTACCAGCGCCAGGTGTGGCTGCTCTTCGAGTACCCC
GAGAGCTCGGGGCCCGCCAGGGTCATCGCCATCGTCTCCGTCATGGTCATCCTCATCTCC
ATCGTCATCTTTTGCCTGGAGACGCTCCCCGAGCTGAAGGATGACAAGGACTTCACGGGC
ACCGTCCACCGCATCGACAACACCACGGTCATCTACAATTCCAACATCTTCACAGACCCC
TTCTTCATCGTGGAAACGCTGTGTATCATCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTC
TTCGCCTGCCCCAGCAAGACGGACTTCTTCAAAAACATCATGAACTTCATAGACATTGTG
GCCATCATTCCTTATTTCATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGGAAACCAG
AAGGGCGAGCAGGCCACCTCCCTGGCCATCCTCAGGGTCATCCGCTTGGTAAGGGTTTTT
AGAATCTTCAAGCTCTCCCGCCACTCTAAGGGCCTCCAGATCCTGGGCCAGACCCTCAAA
GCTAGTATGAGAGAGCTAGGGCTGCTCATCTTTTTCCTCTTCATCGGGGTCATCCTGTTT
TCTAGTGCAGTGTACTTTGCCGAGGCGGAAGAAGCTGAGTCGCACTTCTCCAGTATCCCC
GATGCTTTCTGGTGGGCGGTGGTGTCCATGACCACTGTAGGATACGGTGACATGTACCCT
GTGACAATTGGAGGCAAGATCGTGGGCTCCTTGTGTGCCATCGCTGGTGTGCTAACAATT
GCCCTGCCCGTACCTGTCATTGTGTCCAATTTCAACTATTTCTACCACCGAGAAACTGAG
GGGGAAGAGCAGGCTCAGTTGCTCCACGTCAGTTCCCCTAACTTAGCCTCTGACAGTGAC
CTCAGTCGCCGCAGTTCCTCTACTATGAGCAAGTCTGAGTACATGGAGATCGAAGAGGAT
ATGAATAATAGCATAGCCCATTATAGACAGGTCAATATCAGAACTGCCAATTGCACCACT
GCTAACCAAAACTGCGTTAATAAGAGCAAGCTACTGACCGATGTTTAA

• Ion_trans (PF00520 )
• K_tetra (PF02214 )

• None

• 168-186
• 221-242
• 254-274
• 290-309
• 326-345
• 387-408

>Potassium voltage-gated channel subfamily A member 1
MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPN
TLLGNPKKRMRYFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFY
ELGEEAMEKFREDEGFIKEEERPLPEKEYQRQVWLLFEYPESSGPARVIAIVSVMVILIS
IVIFCLETLPELKDDKDFTGTVHRIDNTTVIYNSNIFTDPFFIVETLCIIWFSFELVVRF
FACPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQKGEQATSLAILRVIRLVRVF
RIFKLSRHSKGLQILGQTLKASMRELGLLIFFLFIGVILFSSAVYFAEAEEAESHFSSIP
DAFWWAVVSMTTVGYGDMYPVTIGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETE
GEEQAQLLHVSSPNLASDSDLSRRSSSTMSKSEYMEIEEDMNNSIAHYRQVNIRTANCTT
ANQNCVNKSKLLTDV

• 1EXB

1. 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. [PubMed:15489334 ]
2. Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC, Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C, Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ, Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q, Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V, Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE, Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I, Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C, Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM, Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A, Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M, Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M, Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM, Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA: The finished DNA sequence of human chromosome 12. Nature. 2006 Mar 16;440(7082):346-51. [PubMed:16541075 ]
3. Freeman SN, Conley EC, Brennand JC, Russell NJ, Brammar WJ: Cloning and characterization of a cDNA encoding a human brain potassium channel. Biochem Soc Trans. 1990 Oct;18(5):891-2. [PubMed:2128063 ]
4. Hoopengardner B, Bhalla T, Staber C, Reenan R: Nervous system targets of RNA editing identified by comparative genomics. Science. 2003 Aug 8;301(5634):832-6. [PubMed:12907802 ]
5. Gubitosi-Klug RA, Mancuso DJ, Gross RW: The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence. Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):5964-8. Epub 2005 Apr 18. [PubMed:15837928 ]
6. Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M: Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet. 1994 Oct;8(2):136-40. [PubMed:7842011 ]
7. Browne DL, Brunt ER, Griggs RC, Nutt JG, Gancher ST, Smith EA, Litt M: Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Hum Mol Genet. 1995 Sep;4(9):1671-2. [PubMed:8541859 ]
8. Adelman JP, Bond CT, Pessia M, Maylie J: Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron. 1995 Dec;15(6):1449-54. [PubMed:8845167 ]
9. Comu S, Giuliani M, Narayanan V: Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1. Ann Neurol. 1996 Oct;40(4):684-7. [PubMed:8871592 ]
10. Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH: Three novel KCNA1 mutations in episodic ataxia type I families. Hum Genet. 1998 Apr;102(4):464-6. [PubMed:9600245 ]
11. Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JB, Kullmann DM, Hanna MG: A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain. 1999 May;122 ( Pt 5):817-25. [PubMed:10355668 ]
12. Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A: Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol. 2000 Oct;48(4):647-56. [PubMed:11026449 ]
13. Knight MA, Storey E, McKinlay Gardner RJ, Hand P, Forrest SM: Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem. Hum Mutat. 2000 Oct;16(4):374. [PubMed:11013453 ]
14. Lee H, Wang H, Jen JC, Sabatti C, Baloh RW, Nelson SF: A novel mutation in KCNA1 causes episodic ataxia without myokymia. Hum Mutat. 2004 Dec;24(6):536. [PubMed:15532032 ]
15. Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM: Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics. 2007 Apr;8(2):131-5. Epub 2006 Nov 29. [PubMed:17136396 ]