KEGG   Homo sapiens (human): 3736Help
Entry
3736              CDS       T01001                                 

Gene name
KCNA1, AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1
Definition
(RefSeq) potassium voltage-gated channel subfamily A member 1
  KO
K04874  potassium voltage-gated channel Shaker-related subfamily A member 1
Organism
hsa  Homo sapiens (human)
Disease
H00749  Episodic ataxias
Drug target
Amifampridine: D10228 D10689
Fampridine: D04127
Tedisamil (DG00206): D06652 D06653
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3736 (KCNA1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   3736 (KCNA1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans BTB_2 Ion_trans_2 PKD_channel
Motif
Other DBs
NCBI-GeneID: 3736
NCBI-ProteinID: NP_000208
OMIM: 176260
HGNC: 6218
Ensembl: ENSG00000111262
Vega: OTTHUMG00000044398
Pharos: Q09470(Tclin)
UniProt: Q09470
Position
12p13.32
AA seq 495 aa AA seqDB search
MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPN
TLLGNPKKRMRYFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFY
ELGEEAMEKFREDEGFIKEEERPLPEKEYQRQVWLLFEYPESSGPARVIAIVSVMVILIS
IVIFCLETLPELKDDKDFTGTVHRIDNTTVIYNSNIFTDPFFIVETLCIIWFSFELVVRF
FACPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQKGEQATSLAILRVIRLVRVF
RIFKLSRHSKGLQILGQTLKASMRELGLLIFFLFIGVILFSSAVYFAEAEEAESHFSSIP
DAFWWAVVSMTTVGYGDMYPVTIGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETE
GEEQAQLLHVSSPNLASDSDLSRRSSSTMSKSEYMEIEEDMNNSIAHYRQVNIRTANCTT
ANQNCVNKSKLLTDV
NT seq 1488 nt NT seq  +upstreamnt  +downstreamnt
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

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (5)   
   KEGG DRUG (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (15)   
   RefSeq(nuc) (1)   
   GenBank (7)   
   EMBL (7)   
Protein domain (4)   
   Pfam (4)   
All databases (44)   

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