1. Gene
  2. CHRNA1 - cholinergic receptor nicotinic alpha 1 subunit Gene

CHRNA1 - cholinergic receptor nicotinic alpha 1 subunit Gene

中文名称:胆碱能受体烟碱α1 亚单位

种属: Homo sapiens

同用名: ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A; FCCMS; SCCMS

基因 ID: 1134 | 基因类型: protein coding

关于 CHRNA1

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:174,747,592-174,764,472 (from NCBI)

This gene has 9 transcripts (splice variants), 259 orthologues, 45 paralogues and is associated with 6 phenotypes. Biased expression in prostate (RPKM 1.5), colon (RPKM 0.5) and 9 other tissues.

功能概要

肌肉乙酰胆碱受体由 4 种不同类型的 5 个亚基组成:2 个 alpha 亚基和 1 个 beta、gamma 和 delta 亚基。该基因编码在乙酰胆碱结合/通道门控中起作用的α亚基。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2012 年 11 月]

The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]

CHRNA1 基因产物(2)

mRNA Protein Name
NM_000079.4 NP_000070.1 acetylcholine receptor subunit alpha isoform b precursor
NM_001039523.3 NP_001034612.1 acetylcholine receptor subunit alpha isoform a precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in muscle cell cellular homeostasis IMP
IMP: 通过突变表型推断
8872460 GOA
involved in musculoskeletal movement IMP
IMP: 通过突变表型推断
18252226 GOA
acts upstream of or within neuromuscular junction development IMP
IMP: 通过突变表型推断
9221765 GOA
involved in neuromuscular process IMP
IMP: 通过突变表型推断
9546329 GOA
acts upstream of or within neuromuscular synaptic transmission IMP
IMP: 通过突变表型推断
9221765 GOA
involved in neuron cellular homeostasis IMP
IMP: 通过突变表型推断
8872460 GOA
involved in neuronal action potential IMP
IMP: 通过突变表型推断
8872460 GOA
acts upstream of or within regulation of membrane potential IMP
IMP: 通过突变表型推断
9221765 GOA
involved in regulation of membrane potential IMP
IMP: 通过突变表型推断
8872460 GOA
involved in skeletal muscle contraction IMP
IMP: 通过突变表型推断
8872460 GOA
involved in skeletal muscle tissue growth IMP
IMP: 通过突变表型推断
18252226 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
12928480 GOA
is active in neuromuscular junction IDA
IDA: 通过直接分析推断
9221765 GOA
located in neuromuscular junction IDA
IDA: 通过直接分析推断
9221765 GOA
is active in neuromuscular junction IMP
IMP: 通过突变表型推断
9221765 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

CHRNA1 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (24 - 78)

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (102 - 255)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (263 - 389)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (408 - 471)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 482 a.a.
蛋白主名 其他名称

acetylcholine receptor subunit alpha

acetylcholine receptor, nicotinic, alpha 1 (muscle)

重组 CHRNA1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72139 CHRNA1 Protein, Human (His) P02708 (S21-L255) ≥95%
HY-P72140 CHRNA1 Protein, Human (His-Trx) P02708 (S21-L255) ≥95%

关联疾病

疾病名称 别名
Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Congenital Myasthenic Syndrome 1a

Congenital Myasthenic Syndrome 2a

CMS1A

Cms Iia

Congenital Myasthenic Syndrome Type Iia

Cms2a

Myasthenic Syndrome, Congenital, Type Iia, Formerly

Cms2a, Formerly

Cms Iia, Formerly

Congenital Myasthenic Syndrome 1a, Slow-Channel

Congenital Myasthenic Syndrome 2a Slow-Channel

Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel

Myasthenic Syndrome, Congenital, Slow-Channel

Sccms

Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel

Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel

Myasthenic Syndromes, Congenital, Slow Channel

Myasthenic Syndrome, Congenital, 1b, Fast-Channel

CMS1B

Congenital Myasthenic Syndrome 1b

Myasthenic Syndrome, Congenital, Fast-Channel

Congenital Myasthenic Syndrome 1b, Fast-Channel

Fccms

Myasthenic Syndrome, Fast-Channel Congenital

Myasthenic Syndrome, Congenital, Type 1b, Fast-Channel

Congenital Myasthenic Syndrome Ib

Multiple Pterygium Syndrome, Lethal Type

LMPS

Lethal Multiple Pterygium Syndrome

Pterygium Syndrome, Multiple, Lethal Type

Multiple Pterygium Syndrome Lethal Type

Pterygium Syndrome Multiple Lethal Type

Autosomal Recessive Lethal Multiple Pterygium Syndrome

Myasthenic Syndrome, Congenital, 2a, Slow-Channel

CMS2A

Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel

Myasthenic Syndrome, Congenital, Type Iia

Sccms

Myasthenic Syndrome, Slow-Channel Congenital

Slow-Channel Congenital Myasthenic Syndrome

Cms Iia

Myasthenic Syndrome, Congenital, Slow-Channel

Slow Channel Congenital Myasthenic Syndrome

Myasthenic Syndrome, Congenital, Type 2a, Slow-Channel

Myasthenic Syndromes, Congenital, Slow Channel

Postsynaptic Congenital Myasthenic Syndromes

Congenital Myasthenic Syndromes, Postsynaptic

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Myasthenia Gravis

MG

Acquired Myasthenia

Autoimmune Myasthenia Gravis

Erb-Goldflam Disease

Mg - [Myasthenia Gravis]

Myasthenia Gravis Nos

Myasthenia

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

Predominantly Cortical Thymoma

Lymphocyte-Predominant Thymoma

Thymoma, Organoid

Thymoma, Type B1

Hydrops Fetalis, Nonimmune

Hydrops Fetalis

Non-Immune Hydrops Fetalis

NIHF

Familial Non-Immune Hydrops Fetalis

Hydrops Fetalis Nonimmune

Idiopathic Hydrops Fetalis

Hb Bart'S Hydrops Fetalis

Alpha-Thalassemia Hydrops Fetalis

Alpha-Thalassemia Major

Hemoglobin Bart'S Hydrops Fetalis

Homozygous Alpha0-Thalassemia

Fetal Anasarca

Fetal Hydrops

Generalized Fetal Edema

Hf

Non-Immune Hf

Non-Immune Fetal Edema

Non-Immune Fetal Hydrops

Hydrops Fetalis, Non-Immune

Hemoglobin Bart'S Hydrops Syndrome

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome

Pterygium

Escobar Syndrome

EVMPS

Pterygium Syndrome

Autosomal Recessive Multiple Pterygium Syndrome

Pterygium Colli Syndrome

Pterygium Universale

Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome

Escobar Variant Multiple Pterygium Syndrome

Multiple Pterygium Syndrome, Nonlethal Type

Surfer'S Eye

Multiple Pterygium Syndrome Escobar Type

Multiple Pterygium Syndrome Nonlethal Type

Familial Pterygium Syndrome

Pterygium Colli

Multiple Pterygium Syndrome, Non-Lethal Type

Nonlethal Type Multiple Pterygium Syndrome

Pterygium Syndrome, Multiple, Escobar Type

Pterygium Of Eye

Web Eye

Medulloblastoma Shh Activated And Tp53 Mutant
Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Medulloblastoma Non-Wnt/Non-Shh
Medulloblastoma Shh Activated And Tp53 Wild-Type

Medulloblastoma Shh-Activated Tp53-Wildtype

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Brain Angioma

Brain Hemangioma

Medulloblastoma Wnt Activated
Medulloblastoma Shh Activated
Oligohydramnios

Oligohydramnios - Delivered

Antepartum Oligohydramnios

Delivered Oligohydramnios

Oligohydramnios, Antepartum Condition Or Complication

Deficient Liquor

Oligohydramnios, Unspecified Trimester

Reduced Liquor Volume

Kleptomania

Pathological Stealing

Myasthenic Syndrome, Congenital, 13

Congenital Myasthenic Syndrome 13

CMS13

Cmsta2

Myasthenic Syndrome, Congenital, With Tubular Aggregates 2

Myasthenic Syndrome, Congenital, 13, With Tubular Aggregates

Congenital Myasthenic Syndrome 13 With Tubular Aggregates

Congenital Myasthenic Syndrome With Tubular Aggregates 2

Myasthenic Syndrome, Congenital, With Tubular Aggregates, 2

Myasthenic Syndrome, Congenital, With Tubular Aggregates, Type 2

Myasthenic Syndrome, Congenital, 5

Endplate Acetylcholinesterase Deficiency

Congenital Myasthenic Syndrome 5

CMS5

Ead

Engel Congenital Myasthenic Syndrome

Myasthenic Syndrome, Congenital, Engel Type

Cms Ic

Congenital Myasthenic Syndrome Type Ic

Congenital Myasthenic Syndrome Type Ic, Formerly

Cms1c, Formerly

Cms Ic, Formerly

Congenital Myasthenic Syndrome Engel Type

End Plate Acetylcholinesterase Deficiency

Synaptic Congenital Myasthenic Syndromes

Cms1c

Cmse

Congenital Myasthenic Syndrome Type 1c

End-Plate Acetylcholinesterase Deficiency

Myasthenic Syndrome, Congenital, Type 5

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

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I

Tobacco Addiction

Nicotine Dependence

Tobacco Addiction, Susceptibility To

Nicotine Addiction

Tobacco Use Disorder

Smoking Habit

Nicotine Dependence, Protection Against

Nicotine Addiction, Protection From

Cigarette Habituation

Cigarette Habituation, Susceptibility To

Smoking Habit, Susceptibility To

Nicotine Dependence, Susceptibility To

Nicotine Addiction, Susceptibility To

Addiction, Tobacco, Susceptibility To

Compulsive Tobacco User Syndrome

Tobacco Dependence

Tobacco Dependence Syndrome

Cigarette Addiction

Cigarette Dependence

Smoking Addiction

Smokers Syndrome

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

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 CHRNA1 VGNC VGNC:27322
Macaca mulatta CHRNA1 VGNC VGNC:71045
Felis catus CHRNA1 VGNC VGNC:60878
Mus musculus CHRNA1 MGD MGI:87885
Rattus norvegicus CHRNA1 RGD RGD:69277
Canis familiaris CHRNA1 VGNC VGNC:39236
Others CHRNA1 NCBI