chloride channel protein-1; chloride channel protein, skeletal muscle; ClC-1 (CLCN1, CLC1)

Function: - voltage-gated chloride channel - chloride channels have several functions including regulation of cell volume, membrane potential stabilization, signal transduction & transepithelial transport - the CLC channel family contains both chloride channels & proton-coupled anion transporters that exchange chloride or another anion for protons - the absence of conserved gating Glu is typical for family members that function as channels Structure: - homotetramer (probable) - belongs to the chloride channel (TC 2.A.49) family - contains 2 CBS domains Compartment: membrane Expression: predominantly expressed in skeletal muscles Pathology: - defects in CLCN1 are the cause of a) autosomal dominant myotonia congenita b) autosomal recessive myotonia congenita

General

Cl- channel transmembrane 10 protein voltage-dependent anion channel, voltage-gated anion channel or porin

Properties

SIZE: entity length = 988 aa MW = 109 kD COMPARTMENT: plasma membrane MOTIF: cytoplasmic domain {1-114} transmembrane domain {115-152} exoplasmic loop {153-158} transmembrane domain {159-182} cytoplasmic loop {183-206} MOTIF: peptide motif {188-192} binding site SITE: 189-189 FOR-BINDING-OF: Cl- helix {191-198} transmembrane domain {207-225} exoplasmic loop {226-231} peptide motif {230-234} transmembrane domain {232-250} cytoplasmic loop {251-301} MOTIF: helix {266-278} helix {282-290} transmembrane domain {302-321} exoplasmic loop {322-347} transmembrane domain {348-376} cytoplasmic loop {377-384} transmembrane domain {385-404} exoplasmic loop {405-453} transmembrane domain {454-474} cytoplasmic loop {475-481} transmembrane domain {482-505} MOTIF: peptide motif {482-486} binding site SITE: 484-484 FOR-BINDING-OF: Cl- exoplasmic loop {506-555} MOTIF: helix {522-536} loop {537-538} helix {539-550} loop {551-555} transmembrane domain {556-573} cytoplasmic domain {574-988} MOTIF: binding site SITE: 578-578 FOR-BINDING-OF: Chloride CBS 1 {609-668} CBS 2 {821-876} ION-PERMEABILITY: Cl-

Database Correlations

OMIM correlations MORBIDMAP 118425 UniProt P35523 PFAM correlations Entrez Gene 1180 Kegg hsa:1180