Hmdb loader
Survey
Identification
HMDB Protein ID HMDBP02575
Secondary Accession Numbers
  • 8074
Name Chloride channel protein 1
Synonyms
  1. Chloride channel protein, skeletal muscle
  2. ClC-1
Gene Name CLCN1
Protein Type Unknown
Biological Properties
General Function Involved in ion channel activity
Specific Function Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
Function
voltage-gated chloride channel activity
anion channel activity
chloride channel activity
transmembrane transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
transporter activity
ion channel activity
Process
establishment of localization
transport
chloride transport
transmembrane transport
anion transport
inorganic anion transport
ion transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:7
Locus 7q32-qter|7q35
SNPs CLCN1
Gene Sequence
>2967 bp
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
TTGTCGGAGCTGCCTTACGACGGGAAGGCGCGGCTGGCTGGGGAGGGGCCCCCCGGCGCG
CCTCCAGGCCGGCCCGAGTCCTTCGCCTTTGTGGATGAGGATGAGGACGAAGATCTCTCT
GGCAAGAGCGAGCTTCCTCCTTCCCTTGCTCTCCACCCCTCTACTACTGCCCCTCTGTCC
CCAGAAGAGCCCAATGGGCCTCTGCCTGGCCACAAACAGCAGCCGGAAGCACCAGAGCCT
GCAGGTCAAAGACCCTCCATCTTCCAGTCCCTGCTTCACTGCTTGCTGGGCAGAGCTCGC
CCCACAAAGAAGAAAACAACCCAGGATTCCACAGATTTAGTGGATAACATGTCACCTGAA
GAGATTGAGGCCTGGGAGCAGGAGCAGCTGAGCCAGCCTGTCTGTTTTGATTCCTGCTGT
ATTGACCAGTCTCCCTTCCAGCTGGTGGAGCAGACAACCCTGCACAAGACTCATACCCTG
TTTTCACTCCTTGGCCTCCACCTCGCTTACGTGACCAGCATGGGGAAGCTCAGGGGCGTC
CTGGCCCTGGAGGAGCTACAGAAGGCCATTGAGGGGCACACCAAGTCTGGGGTGCAGCTC
CGCCCTCCCCTTGCCAGCTTCCGGAACACGACTTCAACTCGAAAGAGTACCGGGGCACCT
CCATCTTCTGCAGAGAACTGGAACCTGCCTGAGGACAGGCCTGGGGCCACTGGAACAGGG
GATGTGATTGCTGCCTCCCCAGAGACCCCTGTGCCATCTCCTTCCCCAGAGCCCCCTCTC
TCCCTGGCCCCAGGCAAGGTAGAGGGCGAGTTGGAGGAGCTGGAGCTGGTGGAGAGTCCA
GGGCTGGAAGAGGAGCTGGCCGACATCTTGCAGGGCCCCAGCCTGCGATCCACAGACGAG
GAGGATGAGGATGAACTGATCCTTTGA
Protein Properties
Number of Residues 988
Molecular Weight 108754.6
Theoretical pI 5.92
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 115-152
  • 159-182
  • 207-225
  • 232-250
  • 302-321
  • 348-376
  • 385-404
  • 454-474
  • 482-505
  • 556-573
Protein Sequence
>Chloride channel protein 1
MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQ
IYGHHKEQFSDREQDIGMPKKTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDWIF
LVLLGLLMALVSWSMDYVSAKSLQAYKWSYAQMQPSLPLQFLVWVTFPLVLILFSALFCH
LISPQAVGSGIPEMKTILRGVVLKEYLTMKAFVAKVVALTAGLGSGIPVGKEGPFVHIAS
ICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVR
NYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMDFPFDLKELPAFAAIGICCGL
LGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFVIASFTFPPGMGQFMAGELMP
REAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIP
CGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTV
STAVICFELTGQIAHILPMMVAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSK
YTIFVEDIMVRDVKFVSASYTYGELRTLLQTTTVKTLPLVDSKDSMILLGSVERSELQAL
LQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGAPPGRPESFAFVDEDEDEDLS
GKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQSLLHCLLGRAR
PTKKKTTQDSTDLVDNMSPEEIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTL
FSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSTRKSTGAP
PSSAENWNLPEDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESP
GLEEELADILQGPSLRSTDEEDEDELIL
GenBank ID Protein 398161
UniProtKB/Swiss-Prot ID P35523
UniProtKB/Swiss-Prot Entry Name CLCN1_HUMAN
PDB IDs Not Available
GenBank Gene ID Z25884
GeneCard ID CLCN1
GenAtlas ID CLCN1
HGNC ID HGNC:2019
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed:16959974 ]
  3. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC: Human chromosome 7: DNA sequence and biology. Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10. [PubMed:12690205 ]
  4. Steinmeyer K, Lorenz C, Pusch M, Koch MC, Jentsch TJ: Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J. 1994 Feb 15;13(4):737-43. [PubMed:8112288 ]
  5. Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ: The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 1992 Aug 7;257(5071):797-800. [PubMed:1379744 ]
  6. George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC: Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet. 1993 Apr;3(4):305-10. [PubMed:7981750 ]
  7. Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ: Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet. 1994 Jun;3(6):941-6. [PubMed:7951242 ]
  8. Heine R, George AL Jr, Pika U, Deymeer F, Rudel R, Lehmann-Horn F: Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion. Hum Mol Genet. 1994 Jul;3(7):1123-8. [PubMed:7981681 ]
  9. George AL Jr, Sloan-Brown K, Fenichel GM, Mitchell GA, Spiegel R, Pascuzzi RM: Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet. 1994 Nov;3(11):2071-2. [PubMed:7874130 ]
  10. Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC: Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am J Hum Genet. 1995 Dec;57(6):1325-34. [PubMed:8533761 ]
  11. Lehmann-Horn F, Mailander V, Heine R, George AL: Myotonia levior is a chloride channel disorder. Hum Mol Genet. 1995 Aug;4(8):1397-402. [PubMed:7581380 ]
  12. Mailander V, Heine R, Deymeer F, Lehmann-Horn F: Novel muscle chloride channel mutations and their effects on heterozygous carriers. Am J Hum Genet. 1996 Feb;58(2):317-24. [PubMed:8571958 ]
  13. Kubisch C, Schmidt-Rose T, Fontaine B, Bretag AH, Jentsch TJ: ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet. 1998 Oct;7(11):1753-60. [PubMed:9736777 ]
  14. Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B: Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online. Hum Mutat. 1998;11(4):331. [PubMed:10215406 ]
  15. Plassart-Schiess E, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B: Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. Neurology. 1998 Apr;50(4):1176-9. [PubMed:9566422 ]