Uniprot ID:P35523	Protein name: Chloride channel protein 1	Gene : CLCN1 CLC1
Protein Family:"Chloride channel (TC 2.A.49) family, ClC-1/CLCN1 subfamily"	Squence Length : 988

Sequnce	>P35523 989 MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQIYGHHKEQFSDREQDIGMPKKTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDGIFLVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQFLVWVTFPLVLILFSALFCHLISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIASICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMDFPFDLKELPAFAAIGICCGLLGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFVIASFTFPPGMGQFMAGELMPREAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIPCGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTVSTAVICFELTGQIAHILPMMVAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSKYTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVKTLPLVDSKDSMILLGSVERSELQALLQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGAPPGRPESFAFVDEDEDEDLSGKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQSLLHCLLGRARPTKKKTTQDSTDLVDNMSPEEIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTLFSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSTRKSTGAPPSSAENWNLPEDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESPGLEEELADILQGPSLRSTDEEDEDELIL
Domains	DOMAIN 609 668 CBS 1 DOMAIN 821 876 CBS 2
CBS sequence regions	609 - 668 RDVKFVSASYTYGELRTLLQTTTVKTLPLVDSKDSMILLGSVERSELQALLQRHLCPERR 821 - 876 QSPFQLVEQTTLHKTHTLFSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGV
Function	"Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport"
Motifs	MOTIF 188 192 Selectivity filter part_1. MOTIF 230 234 Selectivity filter part_2. MOTIF 482 486 Selectivity filter part_3
Binding Site	BINDING 189 189 Chloride. BINDING 484 484 Chloride. via amide nitrogen. BINDING 578 578 Chloride
Mutation	"290 290 I->C,E,F,G,K,L,Q,T,V,Y: Changed chloride channel activity changed gating of the channel 291 291 E->D: No effect on calcium channel activity 291 291 E->L: Loss of calcium channel activity 496 496 R->K: Changed gating of the channel 499 499 G->K,E: Changed gating of the channel 499 499 G->Q: No effect on gating of the channel 500 500 E->Q: No effect on channel function"
Disease	"DISEASE: Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles Many patients show marked hypertrophy of the lower limb muscles The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease) A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior) Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles Many patients show marked hypertrophy of the lower limb muscles The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease) Note=The disease is caused by mutations affecting the gene represented in this entry"

P35523 Proteins CBS domain Repeats