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2.A.49.2.1
Voltage and (possibly) ATP-gated Cl- channel, ClC-1 or CLCN1 (Bennetts et al., 2005; Zifarelli and Pusch, 2008). When mutant, it causes dominant and recessive myotonia. It has a large cytoplasmic C-terminal domain bearing two CBS (cystathionine-β-synthase) domains. Alternative splicing is a posttranscriptional mechanism regulating chloride conductance during muscle development (Lueck et al. 2007).

Accession Number:P35523
Protein Name:Chloride channel protein, skeletal muscle aka CLC1
Length:988
Molecular Weight:108756.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:13
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate Cl-

Cross database links:

Genevestigator: P35523
eggNOG: prNOG05438
HEGENOM: HBG755253
RefSeq: NP_000074.2   
Entrez Gene ID: 1180   
Pfam: PF00571    PF00654   
OMIM: 118425  gene
160800  phenotype
255700  phenotype
KEGG: hsa:1180   

Gene Ontology

GO:0034707 C:chloride channel complex
GO:0005887 C:integral to plasma membrane
GO:0005247 F:voltage-gated chloride channel activity
GO:0006936 P:muscle contraction
GO:0055085 P:transmembrane transport

References (15)

[1] “Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).”  Steinmeyer K.et.al.   8112288
[2] “Human chromosome 7: DNA sequence and biology.”  Scherer S.W.et.al.   12690205
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “The skeletal muscle chloride channel in dominant and recessive human myotonia.”  Koch M.C.et.al.   1379744
[5] “Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).”  George A.L. Jr.et.al.   7981750
[6] “Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.”  Lorenz C.et.al.   7951242
[7] “Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.”  Heine R.et.al.   7981681
[8] “Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.”  George A.L. Jr.et.al.   7874130
[9] “Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.”  Meyer-Kleine C.et.al.   8533761
[10] “Myotonia levior is a chloride channel disorder.”  Lehmann-Horn F.et.al.   7581380
[11] “Novel muscle chloride channel mutations and their effects on heterozygous carriers.”  Mailaender V.et.al.   8571958
[12] “ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.”  Kubisch C.et.al.   9736777
[13] “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.”  Sangiuolo F.et.al.   10215406
[14] “Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.”  Plassart-Schiess E.et.al.   9566422
[15] “The consensus coding sequences of human breast and colorectal cancers.”  Sjoeblom T.et.al.   16959974

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MEQSRSQQRG GEQSWWGSDP QYQYMPFEHC TSYGLPSENG GLQHRLRKDA GPRHNVHPTQ 
61:	IYGHHKEQFS DREQDIGMPK KTGSSSTVDS KDEDHYSKCQ DCIHRLGQVV RRKLGEDWIF 
121:	LVLLGLLMAL VSWSMDYVSA KSLQAYKWSY AQMQPSLPLQ FLVWVTFPLV LILFSALFCH 
181:	LISPQAVGSG IPEMKTILRG VVLKEYLTMK AFVAKVVALT AGLGSGIPVG KEGPFVHIAS 
241:	ICAAVLSKFM SVFCGVYEQP YYYSDILTVG CAVGVGCCFG TPLGGVLFSI EVTSTYFAVR 
301:	NYWRGFFAAT FSAFVFRVLA VWNKDAVTIT ALFRTNFRMD FPFDLKELPA FAAIGICCGL 
361:	LGAVFVYLHR QVMLGVRKHK ALSQFLAKHR LLYPGIVTFV IASFTFPPGM GQFMAGELMP 
421:	REAISTLFDN NTWVKHAGDP ESLGQSAVWI HPRVNVVIII FLFFVMKFWM SIVATTMPIP 
481:	CGGFMPVFVL GAAFGRLVGE IMAMLFPDGI LFDDIIYKIL PGGYAVIGAA ALTGAVSHTV 
541:	STAVICFELT GQIAHILPMM VAVILANMVA QSLQPSLYDS IIQVKKLPYL PDLGWNQLSK 
601:	YTIFVEDIMV RDVKFVSASY TYGELRTLLQ TTTVKTLPLV DSKDSMILLG SVERSELQAL 
661:	LQRHLCPERR LRAAQEMARK LSELPYDGKA RLAGEGLPGA PPGRPESFAF VDEDEDEDLS 
721:	GKSELPPSLA LHPSTTAPLS PEEPNGPLPG HKQQPEAPEP AGQRPSIFQS LLHCLLGRAR 
781:	PTKKKTTQDS TDLVDNMSPE EIEAWEQEQL SQPVCFDSCC IDQSPFQLVE QTTLHKTHTL 
841:	FSLLGLHLAY VTSMGKLRGV LALEELQKAI EGHTKSGVQL RPPLASFRNT TSTRKSTGAP 
901:	PSSAENWNLP EDRPGATGTG DVIAASPETP VPSPSPEPPL SLAPGKVEGE LEELELVESP 
961:	GLEEELADIL QGPSLRSTDE EDEDELIL