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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 | chloride, bromide, iodide, chlorate, nitric acid, thiocyanate |
Cross database links:
RefSeq: | NP_000074.2 |
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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
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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 | |
Structure: | |
External Searches:
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Analyze:
Predict TMSs (Predict number of transmembrane segments) | ||||
FASTA formatted sequence |
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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