Protein Details: Chloride channel protein 1
Protein ID
ICDB_Pro_0500
Protein Name
Chloride channel protein 1
Gene Name
CLCN1; CLC1
Organism
Homo sapiens (Human)
Length
988 amino acids
AlphaFoldDB
AF-P35523-F1-model_v4.pdb
Function
Plays an important role in membrane repolarization in skeletal muscle cells after muscle contraction. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (Probable). The absence of conserved gating glutamate residues is typical for family members that function as channels (Probable).
Sequence
Ligand Binding
Binding Site
BINDING 189; /ligand="chloride" ; BINDING 484; /ligand="chloride" ; BINDING 578; /ligand="chloride"
Disease
Myotonia Congenita;Autosomal Recessive and Myotonia Congenita;Autosomal Dominant
Location
Predominantly expressed in skeletal muscles
DOI ID
10.1002/j.1460-2075.1994.tb06315.x; 10.1126/science.1083423; 10.1101/gr.2596504; 10.1126/science.1379744; 10.1038/ng0493-305; 10.1073/pnas.94.6.2729; 10.1113/jphysiol.2002.027037; 10.7554/elife.36629; 10.1093/hmg/3.6.941; 10.1093/hmg/3.7.1123; 10.1093/hmg/4.8.1397; 10.1016/0896-6273(95)90023-3; 10.1093/hmg/7.11.1753; 10.1002/(sici)1098-1004(1998)11:4<331::aid-humu12>3.0.co;2-3; 10.1212/wnl.50.4.1176; 10.1074/jbc.275.4.2999; 10.1212/wnl.55.11.1697; 10.1002/mus.10347; 10.1126/science.1133427; 10.1002/mus.21525; 10.1016/j.jns.2012.03.024; 10.1113/jphysiol.2012.232785; 10.1113/jp270358; 10.1007/s12017-015-8356-8; 10.1038/srep15382; 10.1002/humu.22916; 10.1016/j.jns.2016.08.030; 10.1016/j.nmd.2016.08.016
RefSeq
NP_000074.2