Sequence Detail

ID/Version

Q64347 Q8BZ41 Q9QVY5 (UniProt | EBI)

Last sequence update: 2010-05-18
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Chloride channel protein 1; Short=ClC-1;AltName: Full=Chloride channel protein, skeletal muscle;

Provider

SWISS-PROT

Sequence

Polypeptide 994 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Clcn1	chloride channel, voltage-sensitive 1	40	107	4	19

Sequence references in MGI

J:752 Steinmeyer K, et al., Inactivation of muscle chloride channel by transposon insertion in myotonic mice. Nature. 1991 Nov 28;354(6351):304-8
J:16954 Gronemeier M, et al., Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice. J Biol Chem. 1994 Feb 25;269(8):5963-7
J:43488 Schnulle V, et al., The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles. Mamm Genome. 1997 Oct;8(10):718-25
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:130763 Wheeler TM, et al., Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest. 2007 Dec;117(12):3952-7
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89
J:347327 Lueck JD, et al., Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle. J Gen Physiol. 2010 Dec;136(6):597-613