CLCN1 - chloride voltage-gated channel 1 Gene

Also Known as CLC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1180

About CLCN1

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:143,316,111-143,352,083 (from NCBI)

This gene has 5 transcripts (splice variants), 284 orthologues, 8 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

The CLCN family of voltage-dependent Chloride Channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

CLCN1 Products (1)

mRNA	Protein	Name
NM_000083.3	NP_000074.3	chloride channel protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	26502825	GOA
enables voltage-gated chloride channel activity	IMP IMP: Inferred from mutant phenotype	22521272	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in chloride transmembrane transport	IMP IMP: Inferred from mutant phenotype	22521272	GOA
involved in muscle contraction	IMP IMP: Inferred from mutant phenotype	22521272	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	26502825	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLCN1 Protein Structure

Voltage_CLC

CBS

0
200
400
600
800
988 a.a.

Protein Preferred Names	Protein Names
chloride channel protein 1	chloride channel 1, skeletal muscle

CLCN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	CLCN1	P35523	FAM9B	Homo sapiens	Q8IZU0	Validated Y2H	25416956
Intra	CLCN1	P35523	FAM9B	Homo sapiens	Q8IZU0	Y2H Array	25416956
Intra	CLCN1	P35523	FAM9B	Homo sapiens	Q8IZU0	Y2H Prey Pooling	25416956
Intra	CLCN1	P35523	PRDM5	Homo sapiens	Q9NQX1-2	Y2H Prey Pooling	32296183
Intra	CLCN1	P35523	PRDM5	Homo sapiens	Q9NQX1-2	Validated Y2H	32296183
Intra	CLCN1	P35523	PRDM5	Homo sapiens	Q9NQX1-2	Y2H Array	32296183
Intra	CLCN1	P35523	CIDEB	Homo sapiens	Q9UHD4	Validated Y2H	32296183
Intra	CLCN1	P35523	CIDEB	Homo sapiens	Q9UHD4	Y2H Array	32296183
Intra	CLCN1	P35523	CIDEB	Homo sapiens	Q9UHD4	Y2H Prey Pooling	32296183
Intra	CLCN1	P35523	APPBP2	Homo sapiens	Q92624	Validated Y2H	32296183
Intra	CLCN1	P35523	APPBP2	Homo sapiens	Q92624	Y2H Array	25416956
Intra	CLCN1	P35523	APPBP2	Homo sapiens	Q92624	Y2H Array	32296183
Intra	CLCN1	P35523	APPBP2	Homo sapiens	Q92624	Y2H Prey Pooling	25416956
Intra	CLCN1	P35523	APPBP2	Homo sapiens	Q92624	Validated Y2H	25416956
Intra	CLCN1	P35523	APPBP2	Homo sapiens	Q92624	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myotonia Congenita, Autosomal Recessive	Becker Disease Myotonia Congenita, Recessive Myotonia, Generalized MCAR Generalized Myotonia Myotonia Congenita Autosomal Recessive Becker Generalized Myotonia Becker Muscular Dystrophy Obscure African Cardiomyopathy Myotonia Congenita
Myotonia Congenita, Autosomal Dominant	Myotonia Levior Thomsen Disease Thd Myotonia Congenita, Dominant MCAD Myotonia Congenita Autosomal Dominant Generalized Myotonia Of Thomsen
Myotonia Congenita	Congenital Myotonia, Autosomal Dominant Form Congenital Myotonia Thomsen And Becker Disease Thomsen Disease Thomsen'S Disease Generalized Myotonia Of Thomsen Congenital Myotonic Muscular Dystrophy Myotonia Congenita Nos
Myotonia
Endomyocardial Fibrosis	Becker'S Disease Obscure African Cardiomyopathy African Endomyocardial Fibrosis Endomyocardial Sclerosis EMF Becker Muscular Dystrophy
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Smith-Lemli-Opitz Syndrome	SLOS Rsh Syndrome 7-Dehydrocholesterol Reductase Deficiency Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Opitz-Inborn Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung Smith Lemli Opitz Syndrome Smith-Lemli-Opitz Syndrome, Type Ii
Headache	Headache Disorder
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
Myotonic Disease	Myotonic Disorders Myotonic Syndrome Symptomatic Myotonia
Myotonic Dystrophy 2	Myotonic Dystrophy Type 2 Proximal Myotonic Myopathy Promm Ricker Syndrome DM2 Dystrophia Myotonica 2 Myotonic Myopathy, Proximal Myotonic Disorders Dystrophia Myotonica Type 2 Proximal Myotonic Dystrophy Ricker Disease Myotonic Dystrophy, Type 2 Dystrophy, Myotonic, Type 2
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Myopathy	Muscular Diseases Myopathies
Myotonic Dystrophy 1	Myotonic Dystrophy Dystrophia Myotonica Steinert Disease Myotonic Dystrophy Type 1 Myotonia Atrophica DM1 Congenital Myotonic Dystrophy Myotonia Dystrophica Steinert Myotonic Dystrophy Dystrophia Myotonica 1 Dm Steinert'S Disease Steinert Myotonic Dystrophy Syndrome Myotonic Dystrophy Of Steinert Dystrophia Myotonica Type 1 Myotonic Dystrophy Congenital Dystrophy, Myotonic, Type 1 Dm - [Dystrophia Myotonica] Myotonic Muscular Dystrophy
Paramyotonia Congenita Of Von Eulenburg	Paramyotonia Congenita PMC Paralysis Periodica Paramyotonica Eulenburg Disease Myotonia Congenita Intermittens Von Eulenburg Paramyotonia Congenita Paralysis Periodica Paramyotonia Von Eulenberg'S Disease Paramyotonia Congenita Without Cold Paralysis Eulenburg Syndrome Paramyotonia
Hyperkalemic Periodic Paralysis	HYPP Gamstorp Disease Gamstorp Episodic Adynamy Adynamia Episodica Hereditaria With Or Without Myotonia Familial Hyperkalemic Periodic Paralysis Hyperkpp Hyperpp Adynamia Episodica Hereditaria Primary Hyperkalemic Periodic Paralysis Hyperkalemic Periodic Paralysis, Type 2 Sodium Channel Muscle Disease Familial Hyperpp Hyperkalemic Pp Primary Hyperpp Periodic Paralysis Hyperkalemic Periodic Paralysis Normokalemic NKPP Periodic Paralysis Eukalemic Paralysis, Hyperkalemic Periodic Paralysis, Periodic, Hyperkalemic Potassium Aggravated Myotonia
Familial Periodic Paralysis	Genetic Periodic Paralysis Paralyses, Familial Periodic
Osteopetrosis	Marble Bone Disease Albers-Schonberg Disease Osteopetroses Marble Bones Osteopetrosis And Related Disorders Congenital Osteopetrosis Marble Bone Albers-Schoenberg Disease Albers-Schonberg Osteopetrosis Osteosclerosis Fragilis Ivory Bones
Hypokalemic Periodic Paralysis, Type 1	Hypokalemic Periodic Paralysis Hokpp Hypopp Westphall Disease HOKPP1 Familial Hypokalemic Periodic Paralysis Familial Periodic Paralysis Westphal Disease Hypokalemic Periodic Paralysis Type 1 Hypokalemic Familial Periodic Paralysis Periodic Hypokalemic Paralysis Periodic Paralysis I Hypokpp Primary Hypokalemic Periodic Paralysis Periodic Paralysis Hypokalemic 1 Paralysis, Hypokalemic, Periodic Paralysis, Hypokalemic, Periodic, Type 1
Dent Disease 1	Dent Disease Dent'S Disease Dent Disease 2 Dent Disease Type 1 DENT1 Urolithiasis, Hypercalciuric, X-Linked Nephrolithiasis 2 Nphl2 Dent Syndrome Dents Disease Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets X-Linked Recessive Nephrolithiasis Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones Nephrolithiasis, Hypercalciuric, X-Linked Nephrolithiasis-Hypercalciuria X-Linked Recessive Nephrolithiasis, X-Linked Recessive Dent Disease, Type 1
Bartter Disease	Bartter Syndrome Bartter'S Syndrome Aldosteronism With Hyperplasia Of The Adrenal Cortex Hypokalemic Alkalosis With Hypercalciuria Potassium Wasting Juxtaglomerular Hyperplasia With Secondary Aldosteronism Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria Salt-Losing Tubular Disorder, Henle'S Loop Type Salt-Wasting Tubulopathy, Henle'S Loop Type Bartters Syndrome
Megalencephalic Leukoencephalopathy With Subcortical Cysts	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts Mlc Van Der Knaap Disease Lvm Leukoencephalopathy With Swelling And Cysts Megalencephaly-Cystic Leukodystrophy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome Infantile Leukoencephalopathy And Megalencephaly Leukoencephalopathy With Swelling And A Discrepantly Mild Course Vacuolating Leukoencephalopathy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystrophy Syndrome Van Der Knaap Syndrome Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Acatalasemia	Acatalasia Catalase Deficiency Deficiency Of Catalase ACATLAS Takahara'S Disease Takahara Disease
Restrictive Cardiomyopathy	Familial Restrictive Cardiomyopathy Cardiomyopathy, Restrictive Cardiomyopathy, Constrictive Primary Restrictive Cardiomyopathy Rcm Cardiomyopathy Restrictive
Muscle Tissue Disease
Muscular Disease
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS02753	CLCN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CLCN1	VGNC	VGNC:27395
Felis catus	CLCN1	VGNC	VGNC:60923
Canis familiaris	CLCN1	VGNC	VGNC:39301
Mus musculus	CLCN1	MGD	MGI:88417
Macaca mulatta	CLCN1	VGNC	VGNC:71234
Rattus norvegicus	CLCN1	RGD	RGD:2360
Others	CLCN1	NCBI