1. Gene
  2. CLCN1 - chloride voltage-gated channel 1 Gene

CLCN1 - chloride voltage-gated channel 1 Gene

中文名称:氯电压门控通道 1

种属: Homo sapiens

同用名: CLC1

基因 ID: 1180 | 基因类型: protein coding

关于 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.

功能概要

电压依赖性氯离子通道基因的 CLCN 家族包含九个成员 (CLCN1-7、Ka 和 Kb) ,它们表现出相当多样的功能特征,同时具有显着的序列同源性。该基因编码的蛋白质调节骨骼肌膜的电兴奋性。该基因的突变导致两种形式的遗传性人类肌肉疾病:隐性全身性先天性肌强直 (Becker) 和显性肌强直 (Thomsen) 。可变剪接导致多个转录本变体。[RefSeq 提供,2012 年 3 月]

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 基因产物(1)

mRNA Protein Name
NM_000083.3 NP_000074.3 chloride channel protein 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
26502825 GOA
enables voltage-gated chloride channel activity IMP
IMP: 通过突变表型推断
22521272 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chloride transmembrane transport IMP
IMP: 通过突变表型推断
22521272 GOA
involved in muscle contraction IMP
IMP: 通过突变表型推断
22521272 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
26502825 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CLCN1 蛋白结构

Voltage_CLC

Voltage_CLC: Voltage gated chloride channel (171 - 571)

CBS

CBS: CBS domain (605 - 657)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 988 a.a.
蛋白主名 其他名称

chloride channel protein 1

chloride channel 1, skeletal muscle

CLCN1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CLCN1 P35523 FAM9B Homo sapiens Q8IZU0 25416956
种属内
CLCN1 P35523 FAM9B Homo sapiens Q8IZU0 25416956
种属内
CLCN1 P35523 FAM9B Homo sapiens Q8IZU0 25416956
种属内
CLCN1 P35523 PRDM5 Homo sapiens Q9NQX1-2 32296183
种属内
CLCN1 P35523 PRDM5 Homo sapiens Q9NQX1-2 32296183
种属内
CLCN1 P35523 PRDM5 Homo sapiens Q9NQX1-2 32296183
种属内
CLCN1 P35523 CIDEB Homo sapiens Q9UHD4 32296183
种属内
CLCN1 P35523 CIDEB Homo sapiens Q9UHD4 32296183
种属内
CLCN1 P35523 CIDEB Homo sapiens Q9UHD4 32296183
种属内
CLCN1 P35523 APPBP2 Homo sapiens Q92624 32296183
种属内
CLCN1 P35523 APPBP2 Homo sapiens Q92624 25416956
种属内
CLCN1 P35523 APPBP2 Homo sapiens Q92624 32296183
种属内
CLCN1 P35523 APPBP2 Homo sapiens Q92624 25416956
种属内
CLCN1 P35523 APPBP2 Homo sapiens Q92624 25416956
种属内
CLCN1 P35523 APPBP2 Homo sapiens Q92624 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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
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