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
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
UniProt: Q14003
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (3)   
   KEGG NETWORK (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (3)   
   KEGG DRUG (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (9)   
   RefSeq(nuc) (3)   
   GenBank (3)   
   EMBL (3)   
Protein domain (5)   
   Pfam (5)   
All databases (54)   

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