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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for KCNA1 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 3736 Official gene symbol KCNA1 Full name potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) Aliases ,AEMK,EA1,HBK1,HUK1,KV1.1,MBK1,MGC126782,MGC138385,MK1,RBK1, Gene summary This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq] Location Chromosome: 12   Locus: 12p13.32 Gene position 5019073 - 5027422  Map Viewer Gene orientation plus Gene size 8350 bp Gene sequence >KCNA1:4959073..4967422:Length=8350 AAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGC TCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAAC TGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGG CTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCG AGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAG AGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTT CGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCA GGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGC CAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACC GCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCG GGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGA GCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGA TCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTG TCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCA AGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTT TCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCT TAGAAGGCGGCAGGCGAAGAGGGGTAGGAGGGGGGAGAGCCGAGGAGAAGCAGAGAGGGT GGCAGGCGTGGGGATCTGCCGAGCCGGCACTGCACCGGGTCCTAGGAAGGCTCTCGGAGG GGAGGGGAGGCCAGGGCGACCCCCGAAGCAATGGCCCAGTCCGCTAGAACGGCACTGCGT TAAGGCACCTGGGATCAGGAAGAAATATCTAAACAACAACAACAGAAAACCAACAAACCC CCAAACCCAAACCCAACCCTCTGCAAAAAGCTGCACCCGGCCCGCAGGCGAGGGGGATTC CAAACTGAGTGAAAGGCAGGGTGGAGGGGAAGGCAGCGAGAGGCAAAGTCGCAGATCTCC CGACCTGCTCGTGTTGAAGCACCTCCCCCTGGGCGTGAGGGAGACGCGCGCTCCGGTGGG GGGGCCGCTTGGGTCCCCCCCACCCCTGGTCCCTGGCTGCTTCCCACCCCGGGCTCTCTC CTGGCCTCCCACCCCCGCGCCCGGCTTCCACCATGACGGTGATGTCTGGGGAGAACGTGG ACGAGGCTTCGGCCGCCCCGGGCCACCCCCAGGATGGCAGCTACCCCCGGCAGGCCGACC ACGACGACCACGAGTGCTGCGAGCGCGTGGTGATCAACATCTCCGGGCTGCGCTTCGAGA CGCAGCTCAAGACCCTGGCGCAGTTCCCCAACACGCTGCTGGGCAACCCTAAGAAACGCA TGCGCTACTTCGACCCCCTGAGGAACGAGTACTTCTTCGACCGCAACCGGCCCAGCTTCG ACGCCATCCTCTACTACTACCAGTCCGGCGGCCGCCTGCGGAGGCCGGTCAACGTGCCCC TGGACATGTTCTCCGAGGAGATCAAGTTTTACGAGTTGGGCGAGGAGGCCATGGAGAAGT TCCGGGAGGACGAGGGCTTCATCAAGGAGGAGGAGCGCCCTCTGCCCGAGAAGGAGTACC AGCGCCAGGTGTGGCTGCTCTTCGAGTACCCCGAGAGCTCGGGGCCCGCCAGGGTCATCG CCATCGTCTCCGTCATGGTCATCCTCATCTCCATCGTCATCTTTTGCCTGGAGACGCTCC CCGAGCTGAAGGATGACAAGGACTTCACGGGCACCGTCCACCGCATCGACAACACCACGG TCATCTACAATTCCAACATCTTCACAGACCCCTTCTTCATCGTGGAAACGCTGTGTATCA TCTGGTTCTCCTTCGAGCTGGTGGTGCGCTTCTTCGCCTGCCCCAGCAAGACGGACTTCT TCAAAAACATCATGAACTTCATAGACATTGTGGCCATCATTCCTTATTTCATCACGCTGG GCACCGAGATAGCTGAGCAGGAAGGAAACCAGAAGGGCGAGCAGGCCACCTCCCTGGCCA TCCTCAGGGTCATCCGCTTGGTAAGGGTTTTTAGAATCTTCAAGCTCTCCCGCCACTCTA AGGGCCTCCAGATCCTGGGCCAGACCCTCAAAGCTAGTATGAGAGAGCTAGGGCTGCTCA TCTTTTTCCTCTTCATCGGGGTCATCCTGTTTTCTAGTGCAGTGTACTTTGCCGAGGCGG AAGAAGCTGAGTCGCACTTCTCCAGTATCCCCGATGCTTTCTGGTGGGCGGTGGTGTCCA TGACCACTGTAGGATACGGTGACATGTACCCTGTGACAATTGGAGGCAAGATCGTGGGCT CCTTGTGTGCCATCGCTGGTGTGCTAACAATTGCCCTGCCCGTACCTGTCATTGTGTCCA ATTTCAACTATTTCTACCACCGAGAAACTGAGGGGGAAGAGCAGGCTCAGTTGCTCCACG TCAGTTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCAGTTCCTCTACTATGA GCAAGTCTGAGTACATGGAGATCGAAGAGGATATGAATAATAGCATAGCCCATTATAGAC AGGTCAATATCAGAACTGCCAATTGCACCACTGCTAACCAAAACTGCGTTAATAAGAGCA AGCTACTGACCGATGTTTAAAAAACAAAGGCAAGCAAACAAAAAAGCCCCACTTAGCAGC TCAAAAGACTTAAAAAACAAAACAGAAAACCTAGTGACTCATGTCACGCTTTGTAGATAC TTTACTAAGTAGACTTGGAATGCTCTATTTAACTGTCAATGCGTTGTTGCATTGAGGATT TTGGGGGTGGTGAACCAGAAGCTTTCAAGATCCATGACAAAATAAACTATTTTCCTTTTA TTAAAAAATGGGAAAAGAGAGAGTATTTTCTAAAACTGGCTTAAAAAGATTCAGTCCACG AACTAGTCTAGGTAAAATAATAATCATATGCTTCCCCAAACTGAAACATTTTTAATGCTT TGGTTTCTTTAACTTTTTTAAAAACTCAGAACAAGATGATCACTTAGAAATATGAAATTG AAATTCGCATGGGACTCCAGTAAAACATCTTTGCAAACTGCGTAGCACATTGAAGACAGT GCATCAGATGTATTATATGTAACATGATAGACCAGCCAAAATGGACAATGAATAGATATT TTTATTTCGATCAACTGAACTGCATATTACAAGGTGAAAAAAGAAAACTCCGATTACTTA AGACTGGTTCACAAAGCACCTTATAAATTGGATACTGGTCCTGATCTGTAGGGATTTCCC CCTGGGCCCATTCTCTTTCTAATCCAGATTATTCTCTAAGAAAAAGTTAACTGAATTAAA TTAATTGATTCTTCTGCAGTGCCGCTAAATGGTCTCAACTGCAGATGAGCCAAATACAGG TCTTTTCTCACCAGGCCTGCACTCCGACCCCTGGCTTTCAGAACTGGATGTAAAACCTTA GCCTCCTTATTGCAAGAGAGCACAAATGAAGTTAAATGTAAGCATGTTTGAATCTGATAC AATTTATTTTATAATCGCATGCTGAGAAGTTAACCCAGACAATAGGGGATAAGCTTAAGT TGAAATCGATTCTTCTAAAAATAGATCCTTTTTCATTTGCATTCACCAAAAGTGCACTCC TCCATTTATTAACTATTTTATTAGTAAATAAAGTACTGTATTTAAGTGCATATGTTAGTC AGATGGGAACAATAACTTTTTGGAGCTCAAAGCATGTTCTCTTATTCAGCATTATGGCCT ATTTGACTAAGATGTACCTTGAATTAATTAATGCATGATTTCAGTAATAAAAATTTTAAA AGTAATAAAAATTACAAGTCTGTGGGGTGAAAGGCCCAATAGAAATTATGGGGGGTGGGG GTGGGGGCACTCAGTCAATTTTCCTGCCTTTGCTCAGGGAAATACCAGGTTTTTGTGCAG GTATAGGCGGAGAGAGGACCAATATGCCCATCCCTTAAAGGGAAGCCATGTGAAAAACTC AATAAGTCATCAAAGTACATATAGCAACACCTAAGAACAAGTATTCTTTCTAGCTGAAGA CAAACACAAGCAACACAAACAAGCAAACAAACAAACAAACAAAAAGGTGCAATACTGCAT GTTTTTTGGTGCATTCTTAGGATGTAAATGAAAATGTTTCTCTATTATATGCATCCGAAG CAGAGCTGATTTTTTTTTCTTTGCAGTCATTCTTTGAAGTCTGTAGAGACTTCAGCCCTC CCCTTGAGGCTCCCTGAAGAAACTAAACCAATTGATTTAATAGTTGCTTAGTGCCTTTAT CCTGTACCCACAGTGAACTGTAGAAAGTGCCTCCTTAACACAGCTGAGAAGTTAGGTAGC AAAAGTGGGGAAGGGTTGGGGCACAGACCTTTTGCTTTTTCTTTTTCCATTCTCGCTCTC TCATTTCACCACTGTGAGAAGACCACACCACCCTAAACCCTGGAGAGGAGAGACCCAGGA GGGTGCTGTCTCTCTGGCCATCTACTAGCATTGGTCCCTTTGACAGCCTGACGCTGGATG TGAACTGAGACCCATCTTTGAACTGGACATGAACTGTGAACTTGTTTTTTCCTCTCTCCA CCAAAGCCAAGATAAACTTTTTGGGAATTTGTTTCCTATCGAGGGCCACTTTGGACACAC AAGGCTTCCTCAGGTCCAGTGTAGTGCTCCTGGCACCTTTCCTTATTTTTTTCTCTGTCG GTAACAGCACTTTGCAAATCTCTCTGACGGTCCAGTCTTTTCAGGCATTGTTGTGGATGT GGGAACACTCAGTTCATAATAACCTTTCCTAGGCCTTCCCTCCTGGTCTACCCCTTTCAG ATATTTCCTGATGCCCCTATGATCTTCCCACCTGGCAGTCACTTCACAGGTTGAACATCT AACTTCTGCTGCCCCCCCGTTACCCAGCCCAGAGAATGGTGGGGACCCTGTTCCTGGCTG AAAGAGAGCCACGGAACACAGGCCTCTGGAGCTCGGCAGCTGCCCACCGGTGGAGAGGTA CTCACAGCCTTTCAAAGGACCCTGAGGTGGGGAATCTTCATTCTGCACTTAGCATGTGGC TGCCTGTTACCTGACATTCTGGCCCAGCTTCTTCTGAAAATCTGTCCTGCTTCTCCCACC CCTTTCCCCCATCCTGTCCTAGAACTAGCAGTGAGGCAATCACCCTAGAAACTCGAGTTA CACCCATTCTGGCTAACTCGATTAAAAGAAAGAACATGGATATCTTATTTTCCTATGTGA CTTTTGTGAATCTGTGAGATGAACACAACACACATCGTGGAAGATGAGGGGCCAAGAACT GCGCAGCATCCGACTACAGGGCATTAAACCCTCCCATGTGATGTCTCCTTCTCGTCTGAA CCTTAACTCATTCTGGCGATTCCTTTCCTACTTGCTTAAAAATCCCCAATTAGGAAAAAA ATGCCAACCTCCTCCCAGGCTTGGGGTTATCTTGATCTTTCATTTCAACGTTGAGGTCTA GTGCACACAGAACTTGAAACACCGCACTCTGTCAACAGCAATAATCCACTCAGTACTGTG GGATGGATGGGTTAATGGATGAGAAAACGGCACCAAGACTGACTTTGGGTATTTGGTATA TTTACCGTGGTTACACTCTGGACTGGTTGATTCTTCTGCATGTGATATAGAAAAAAGTGC TGCATGCGGTGAACCTGTCAGTCTGGGACTGGGGGTGAGTTGTTGTTATGAGTTTGGGGT GGTGTGAGGAAAGTGAATGCTGCTTAGCTCATCTGTAGCTCATTGCAATGAATTCAGTAA GAATGGAGTACAGGGATTATCTGTGTAGCATAGGCATGCAATGTTTGACCAAGCTCTTAC CCTCGCACTGTAATGTGTTGAAATGTCTTTGTAGACCTGAAGGTGCACTTAACAAAACTG CCTATTAAGGGATGACTATTTTTTGGTTTACTTATTCATATTTATTTTAGCAGCCTTTTT ACCTTTTCTTCCCCTTCCTAGGCATGGAGCTGTAACAGCTCATGTCCTGACTATGTGTTT TCTCCAGAAGGAGAAGACTTCTGATGTGCTGATAGCTATAATTCCTCTCTTCCAGTCTAT TGGGGCCCTAGTTCAATAGGGTGGCAATAGAAGAGTTGGTCACACCAGGGCTGTTAGCCA TCCCAGAATCTCTGAAGTGGTTAACTCACCTGAAGTGATCTGAATCAGAGAGACCAAAGA CATTCATTTCCTCTGTCCTCAGATTTCTAGAAGACAAATTCTAGCCAGGAAAACTTTCTG TTTTTGCATCTCCCTTTTCCCATTTGTGCCCAACTCCCCTTGCACTCCCTGGAGACTTGA GTTCTGATTTTCAGTTATATCAGCTCATTGGGAGTGTGTTCGTGGGTGAGCCTTGCAGAA TCAGATAAACCAATAGCAAGTCCTTCTCCAGGATTCTGGCCAGTGGGCAGTCATTTCCCT GAAATGAATTGTAGGGCAGGTTTAGATTCCACTATGGTGGACGTGAAGCACAGGTGGTGT CACAATCTTGATTTGCTTGAGAATTAAAAAAATACATGTAAATGGTAAATGAGGAATACA TTTTTTTAAAGTAGAAATTTGGTTTAGCCTATAAAAGGCCTTCTTCACATTGTGTATAGT TACACGTTTTTCAAATTAGGTACCATCTAAAAGTCAATAAAAATAGTTTCCTAGCCCTCT CATTTAATATAGGAGACCTCAAAACACATGCTTTTTAACAATTTTACATTTTAATTCTTA GTTTGGTAGATTGGATTGAAAGAAAGGAGAAAGAACATTAGCAGAAGGCACTTTCCCATT TTCTTCCAGGAATGACTTATTCCTGGGGTGGTGAGAATTGGTGGGTGGTAACCATCCATA GTATAAAATTGTTAGAAAGAATATAAACTGCCAAACAAGCATGTTATCTTCAGGCTTTTC CAAGCAAGAATGAAGTCTTTTGATGTTTATGTTCATTTTAAGAAGACAAACAAACTAAAA TTTTAAGACCAGACACAACCCAAGTTGAATTGTGATCTCAGGAGGTGAACTCTCATTCAC CATGTGGCATATTACTACCTGTATTTATATCATGGAATTTCAGGGTATATGTGAACATGT CTAGTATGACTCAGGTAAACCTTTAAAGAATGTATGTTACTTACCATTTTTGTAAAGAAG CAAACAGGAGCTGAATTGTTAACCAAAACTGTTCCATTACCTTGGGTCACTGTGCAAACT AATTCAGGGTACAGATATAAAGTTTAGAAGCCTTGGGATTAAATGCCAGCCTCTTTGCTC AGGCAAAATGACCCTGGGCTTTCTTGGGAAGTCCAGCATGTATGTAAGGGGTGAGGCCCT GCTGACCTCAGGGCTTTTCGCTTTAAGGAGATTAACCCTAGTCACAGTGATTTTCATTTA GGAGCTAACTAGGAGTTTACTCTTTATGACGTGAAACTTCAAAGAGTATAGAAAACTTTT GTACCACAATCAAAGAAGAAGAAATGGTGTATGGAAAGAAAACAAAACAAAACAAGAAAT CTCTTGTAAAATATTCCAGGTCAAAGTTGTCTCCTCTCCAAACCTTGCAGAAGCACCTTT CTTCTCTTCAGCGCACTGTTTTGGGACTGTTTATGCAGCAGATGTAAGTAGACAACATGG ACTCCATGTGACATGCCTCTAATAGTAAAGATAAAGTATTACTGAGGTTAAAAATAAAAA TTGAGTAGTATTAATTTAAAGTGCACCATCAGGACAACAAACCATTTAAGCTGAAAAAAC GCTATTTTATTTCTTGAGTTTGCCAGTTGCTTCCACCTTGAGTTAAGGACGTGTCTCATC TTCACCTACTGCGCATTCTCCCTTCTCTAACTGTGTAATATGTCAGGTCAAGGACATTGA ATGTTATGAATTGAGAACCTAATTGATGCGCATAGTTTTCATCTATGCAATTTTACTTGC TTCTGTCACTTTACGATCTGTTCATATTTGGCATCAATTAAAGATACTTTTTAAGGATCT TATCAAGGAA OMIM ID 176260