KEGG   Homo sapiens (human): 3748
Entry
3748              CDS       T01001                                 
Symbol
KCNC3, KSHIIID, KV3.3, SCA13
Name
(RefSeq) potassium voltage-gated channel subfamily C member 3
  KO
K04889  potassium voltage-gated channel Shaw-related subfamily C member 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa05017  Spinocerebellar ataxia
Network
nt06411  Potassium transport
nt06462  Spinocerebellar ataxia
  Element
N00972  Transport of potassium
N00973  Mutation-inactivated KCNC3 to transport of potassium
Disease
H00063  Spinocerebellar ataxia (SCA)
Drug target
Amifampridine: D10228 D10689<US>
Fampridine: D04127<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    3748 (KCNC3)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3748 (KCNC3)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   3748 (KCNC3)
SSDB
Motif
Pfam: Ion_trans BTB_2 Ion_trans_2 Potassium_chann BTB_3
Other DBs
NCBI-GeneID: 3748
NCBI-ProteinID: NP_004968
OMIM: 176264
HGNC: 6235
Ensembl: ENSG00000131398
Pharos: Q14003(Tclin)
UniProt: Q14003
LinkDB
Position
19:complement(50311937..50333536)
AA seq 757 aa
MLSSVCVSSFRGRQGASKQQPAPPPQPPESPPPPPLPPQQQQPAQPGPAASPAGPPAPRG
PGDRRAEPCPGLPAAAMGRHGGGGGDSGKIVINVGGVRHETYRSTLRTLPGTRLAGLTEP
EAAARFDYDPGADEFFFDRHPGVFAYVLNYYRTGKLHCPADVCGPLFEEELGFWGIDETD
VEACCWMTYRQHRDAEEALDSFEAPDPAGAANAANAAGAHDGGLDDEAGAGGGGLDGAGG
ELKRLCFQDAGGGAGGPPGGAGGAGGTWWRRWQPRVWALFEDPYSSRAARYVAFASLFFI
LISITTFCLETHEGFIHISNKTVTQASPIPGAPPENITNVEVETEPFLTYVEGVCVVWFT
FEFLMRITFCPDKVEFLKSSLNIIDCVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVR
ILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGADPDDIL
GSNHTYFKNIPIGFWWAVVTMTTLGYGDMYPKTWSGMLVGALCALAGVLTIAMPVPVIVN
NFGMYYSLAMAKQKLPKKKNKHIPRPPQPGSPNYCKPDPPPPPPPHPHHGSGGISPPPPI
TPPSMGVTVAGAYPAGPHTHPGLLRGGAGGLGIMGLPPLPAPGEPCPLAQEEVIEINRAD
PRPNGDPAAAALAHEDCPAIDQPAMSPEDKSPITPGSRGRYSRDRACFLLTDYAPSPDGS
IRKATGAPPLPPQDWRKPGPPSFLPDLNANAAAWISP
NT seq 2274 nt   +upstreamnt  +downstreamnt
atgctgagctcagtctgcgtctcgtccttccgcgggcgccagggggccagcaagcagcag
ccggcgccaccgccgcagccgcccgagtccccgccgccgccaccgctgccgccgcagcag
cagcagcctgcgcagcccggccccgccgcgtccccggcgggccccccggcaccccgcggg
cccggggaccggcgcgccgagccatgccccgggctgccggcggcggccatggggcggcac
ggcggcggcggtggcgacagcggcaagatcgtgatcaacgtgggcggcgtgcgccatgag
acgtaccgctcgacgctgcgcaccctgccggggacgcggctggccggcctgacggagccc
gaggcggcggcacgcttcgactacgacccgggcgccgacgagttcttctttgaccggcac
ccgggagtcttcgcgtacgtgctcaactactaccgcaccggcaagctgcactgcccagcc
gacgtgtgcgggcccctgtttgaggaggagctcggcttctggggcatcgacgagaccgac
gtggaggcctgctgctggatgacctaccggcagcatcgcgacgctgaggaggcgctcgac
tccttcgaggcgcccgaccccgcgggcgccgccaacgccgccaacgccgcaggcgcccac
gacggaggcctggacgacgaggcgggcgcgggcggcggcggcctggacggagcgggcggc
gagctcaagcgcctctgcttccaggacgcgggcggcggcgccggggggccgccagggggc
gcgggcggcgcgggcggcacatggtggcgccgctggcagccccgcgtgtgggcgctcttc
gaggacccctactcgtcgcgggctgccaggtatgtggccttcgcctccctcttcttcatc
ctcatctccatcaccaccttctgcctggaaacccatgagggcttcatccatattagcaac
aagacggtgacccaggcctccccgatccccggggcacctccggagaacatcaccaacgtg
gaggtggagacggagcccttcctgacctacgtggagggggtgtgcgtggtctggttcacc
ttcgagttcctcatgcgcatcaccttctgcccagacaaggtggagtttcttaaaagcagc
ctcaacatcatcgactgtgtggccatcctgcccttctatctcgaggtgggcctctcgggc
ctcagctccaaggccgccaaagacgtgctgggcttcctgcgggtggtccgcttcgtccgc
atcctgcgcatcttcaagctgacccggcacttcgtggggctgcgcgtgctgggacacacg
ctccgcgccagcaccaacgagttcctgctgctcatcatcttcctggccctgggggtgctc
atcttcgccaccatgatttactacgctgagcgcattggcgccgaccccgatgacatcctg
ggctccaaccacacctacttcaagaacatccccattggcttctggtgggctgtggtcacc
atgacgaccctgggctatggagacatgtaccccaagacgtggtcggggatgctggtcggg
gcgctgtgtgccctggcgggggtgctgaccatcgccatgcctgtgcccgtcattgtcaac
aactttggcatgtactattcgctggccatggccaagcagaagctgcccaagaagaagaac
aaacacatcccccggcccccgcaaccgggctcgcccaactactgcaagcctgacccaccc
ccgccacccccgccccacccgcaccacggcagcgggggcatcagcccgccgccacccatc
accccaccctccatgggggtgactgtggccggggcctacccagcggggccccacacgcac
cccgggctgctcagggggggagcgggtgggctggggatcatggggctgcctcctctgcca
gcccccggcgagccttgcccgttggctcaggaggaggtgattgagatcaaccgggcagat
cctcgccccaatggggatccggcagcagctgcgcttgcccacgaggactgcccagccatt
gaccagcctgccatgtccccggaagacaagagccccatcacgcctggaagccgtggccgc
tatagccgggaccgagcctgcttcctcctcaccgactatgccccttcccctgatggctcc
atccgaaaagccactggtgctcccccactgcccccccaagactggcgtaagccaggcccc
ccaagcttcttgcccgacctcaacgccaacgccgcggcctggatatccccctag

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