KEGG   Homo sapiens (human): 1180
Entry
1180              CDS       T01001                                 
Symbol
CLCN1, CLC1
Name
(RefSeq) chloride voltage-gated channel 1
  KO
K05010  chloride channel 1, skeletal muscle
Organism
hsa  Homo sapiens (human)
Disease
H00705  Myotonia congenita
H01780  Non-dystrophic myotonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    1180 (CLCN1)
Ion channels [BR:hsa04040]
 Chloride channels
  Chloride channel (CLC)
   1180 (CLCN1)
SSDB
Motif
Pfam: Voltage_CLC CBS
Other DBs
NCBI-GeneID: 1180
NCBI-ProteinID: NP_000074
OMIM: 118425
HGNC: 2019
Ensembl: ENSG00000188037
UniProt: P35523
Structure
Position
7:143316111..143352083
AA seq 988 aa
MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQ
IYGHHKEQFSDREQDIGMPKKTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDGIF
LVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQFLVWVTFPLVLILFSALFCH
LISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIAS
ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVR
NYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMDFPFDLKELPAFAAIGICCGL
LGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFVIASFTFPPGMGQFMAGELMP
REAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIP
CGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTV
STAVICFELTGQIAHILPMMVAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSK
YTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVKTLPLVDSKDSMILLGSVERSELQAL
LQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGAPPGRPESFAFVDEDEDEDLS
GKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQSLLHCLLGRAR
PTKKKTTQDSTDLVDNMSPEEIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTL
FSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSTRKSTGAP
PSSAENWNLPEDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESP
GLEEELADILQGPSLRSTDEEDEDELIL
NT seq 2967 nt   +upstreamnt  +downstreamnt
atggagcaatcccggtcacagcagcgtgggggtgaacaaagctggtggggtagtgacccc
cagtaccagtatatgccctttgaacactgcaccagctacggactgccctctgagaatggg
ggcctccagcacaggctccggaaggatgcaggcccccgccacaacgtccaccccacacag
atttatggccatcacaaagaacaattctcagacagggagcaggacatagggatgcccaag
aagacaggctccagttctaccgtggacagcaaggatgaggatcactattctaaatgtcaa
gattgtatccaccgcctgggacaggtggtgagaagaaaattaggggaagacgggatcttt
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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