Homo sapiens (human): 1180
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Voltage_CLC
CBS
Motif
Other DBs
NCBI-GeneID:
1180
NCBI-ProteinID:
NP_000074
OMIM:
118425
HGNC:
2019
Ensembl:
ENSG00000188037
UniProt:
P35523
Structure
PDB
LinkDB
All DBs
Position
7:143316111..143352083
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AA seq
988 aa
AA seq
DB search
MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQ
IYGHHKEQFSDREQDIGMPKKTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDGIF
LVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQFLVWVTFPLVLILFSALFCH
LISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIAS
ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVR
NYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMDFPFDLKELPAFAAIGICCGL
LGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFVIASFTFPPGMGQFMAGELMP
REAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIP
CGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTV
STAVICFELTGQIAHILPMMVAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSK
YTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVKTLPLVDSKDSMILLGSVERSELQAL
LQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGAPPGRPESFAFVDEDEDEDLS
GKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQSLLHCLLGRAR
PTKKKTTQDSTDLVDNMSPEEIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTL
FSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSTRKSTGAP
PSSAENWNLPEDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESP
GLEEELADILQGPSLRSTDEEDEDELIL
NT seq
2967 nt
NT seq
+upstream
nt +downstream
nt
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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integrated database retrieval system