KEGG   Homo sapiens (human): 1180Help
Entry
1180              CDS       T01001                                 

Gene name
CLCN1, CLC1
Definition
chloride channel, voltage-sensitive 1
Orthology
K05010  
chloride channel 1, skeletal muscle
Organism
hsa  Homo sapiens (human)
Disease
H00705  
Myotonia congenita
Brite
Ion channels [BR:hsa04040]
 Chloride channels
  CLCN chloride channel
   1180 (CLCN1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
7q35
AA seq 988 aa AA seqDB search
MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQ
IYGHHKEQFSDREQDIGMPKKTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDWIF
LVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQFLVWVTFPLVLILFSALFCH
LISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIAS
ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVR
NYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMDFPFDLKELPAFAAIGICCGL
LGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFVIASFTFPPGMGQFMAGELMP
REAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIP
CGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTV
STAVICFELTGQIAHILPMMVAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSK
YTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVKTLPLVDSKDSMILLGSVERSELQAL
LQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGAPPGRPESFAFVDEDEDEDLS
GKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQSLLHCLLGRAR
PTKKKTTQDSTDLVDNMSPEEIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTL
FSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSTRKSTGAP
PSSAENWNLPEDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESP
GLEEELADILQGPSLRSTDEEDEDELIL
NT seq 2967 nt NT seq  +upstreamnt  +downstreamnt
atggagcaatcccggtcacagcagcgtgggggtgaacaaagctggtggggtagtgacccc
cagtaccagtatatgccctttgaacactgcaccagctacggactgccctctgagaatggg
ggcctccagcacaggctccggaaggatgcaggcccccgccacaacgtccaccccacacag
atttatggccatcacaaagaacaattctcagacagggagcaggacatagggatgcccaag
aagacaggctccagttctaccgtggacagcaaggatgaggatcactattctaaatgtcaa
gattgtatccaccgcctgggacaggtggtgagaagaaaattaggggaagactggatcttt
ctggtgcttctgggactgctgatggctctggtcagctggagcatggactacgtcagtgcc
aaaagccttcaggcctacaagtggtcctacgcgcagatgcagcccagccttcctctgcag
ttcctggtctgggtcaccttcccactagtcctcatcctcttcagcgccctcttctgccac
ctcatctctccccaggctgttggctctggaatccccgaaatgaagacaatacttcgtggg
gttgtcctgaaggaatacctcacaatgaaagcctttgtggccaaggttgtcgccctgact
gcgggcctgggcagtggcatccccgtggggaaagagggccccttcgtccacattgccagc
atctgtgctgctgtcctcagcaaattcatgtctgtgttctgcggggtatatgagcagcca
tactactactctgatatcctgacggtgggctgtgctgtgggagtcggctgttgttttggg
acaccacttggaggagtgctatttagcatcgaggtcacctccacctactttgctgttcgg
aactactggagaggattctttgcagccacgttcagcgcctttgtgtttcgagtgctggca
gtgtggaacaaggatgctgtcaccatcactgctctgttcagaaccaatttccgaatggat
ttcccctttgacctgaaggaactaccagcttttgctgccatcgggatttgctgtgggctc
ctgggagctgtatttgtgtatctgcatcgccaagtcatgctcggtgtccgaaagcacaag
gccctcagccagtttcttgctaagcaccgcctgctgtatcctggaattgttacctttgtc
attgcctcattcaccttcccaccaggaatgggtcaattcatggctggagagttgatgccc
cgcgaagccatcagtactttgtttgacaacaatacatgggtgaaacacgcgggtgatcct
gagagcctgggccagtcagctgtgtggattcacccccgggtcaacgttgtcatcatcatc
tttctcttcttcgtcatgaagttctggatgtccatcgtggccaccactatgcccataccc
tgcggaggcttcatgcctgtgtttgtgctaggagctgcatttggaaggctggtaggagaa
atcatggccatgctctttcctgatggtattttgtttgatgacatcatctacaagatccta
cctgggggctatgcagtaattggagcagcagcgctgactggtgccgtttcccacacagtc
tccacagctgtgatttgcttcgaattaacgggtcagattgctcacatcctgcccatgatg
gtggctgttatcttggccaacatggtggcccagagcctgcagccctctctctatgacagc
atcatccaggtcaagaagctaccctacttgcctgaccttggctggaaccagctcagcaaa
tataccatctttgttgaggacatcatggtacgtgatgtgaagtttgtttcagcttcttac
acatatggggagttgcgaaccctgctccagaccaccacagtcaagactttaccactggtt
gactcaaaagattcaatgatcctgctgggctcggtggagcggtcggaactgcaggccctc
ctgcagcgccacctgtgtcctgagcgcaggctgcgcgcagcccaagagatggcgcggaag
ttgtcggagctgccttacgacgggaaggcgcggctggctggggaggggctccccggcgcg
cctccaggccggcccgagtccttcgcctttgtggatgaggatgaggacgaagacctctct
ggcaagagcgagcttcctccttcccttgctctccacccctctactactgcccctctgtcc
ccagaagagcccaatgggcctctgcctggccacaaacagcagccggaagcaccagagcct
gcaggtcaaagaccctccatcttccagtccctgcttcactgcttgctgggcagagctcgc
cccacaaagaagaaaacaacccaggattccacagatttagtggataacatgtcacctgaa
gagattgaggcctgggagcaggagcagctgagccagcctgtctgttttgattcctgctgt
attgaccagtctcccttccagctggtggagcagacaaccctgcacaagactcataccctg
ttttcactccttggcctccacctcgcttacgtgaccagcatggggaagctcaggggcgtc
ctggccctggaggagctacagaaggccattgaggggcacaccaagtctggggtgcagctc
cgccctccccttgccagcttccggaacacgacttcaactcgaaagagtaccggggcacct
ccatcttctgcagagaactggaacctgcctgaggacaggcctggggccactggaacaggg
gatgtgattgctgcctccccagagacccctgtgccatctccttccccagagccccctctc
tccctggccccaggcaaggtagagggcgagttggaggagctggagctggtggagagtcca
gggctggaagaggagctggccgacatcttgcagggccccagcctgcgatccacagacgag
gaggatgaggatgaactgatcctttga

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