2. Gene
  3. CACNA1I - calcium voltage-gated channel subunit alpha1 I Gene

CACNA1I - calcium voltage-gated channel subunit alpha1 I Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：钙电压门控通道亚基 alpha1 I

种属: Homo sapiens

同用名: Cav3.3; NEDSIS; ca(v)3.3

基因 ID: 8911 | 基因类型: protein coding

关于 CACNA1I

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:39,570,753-39,689,735 (from NCBI)

This gene has 5 transcripts (splice variants), 265 orthologues, 26 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 1.3), adrenal (RPKM 0.7) and 10 other tissues.

功能概要

该基因编码电压门控钙通道的成孔 α 亚基。编码的蛋白质是钙通道亚家族的成员，称为低电压激活的 T 型钙通道。与其他 T 型钙通道相比，由该蛋白质编码的通道的特点是激活和失活速度较慢。这种蛋白质可能参与神经元中的钙信号传导。交替剪接导致多个转录本变体。[RefSeq 提供，2011 年 10 月]

This gene encodes the pore-forming alpha subunit of a voltage gated Calcium Channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, Calcium Channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

CACNA1I 基因产物(2)

mRNA Protein Name
NM_001003406.2 NP_001003406.1 voltage-dependent T-type calcium channel subunit alpha-1I isoform b
NM_021096.4 NP_066919.2 voltage-dependent T-type calcium channel subunit alpha-1I isoform a
基因本体论
  • 分子功能
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
16740636 GOA
enables voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
10749850 GOA
enables voltage-gated calcium channel activity IMP
IMP: 通过突变表型推断
33704440 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

CACNA1I 蛋白结构

Ion_trans

Ion_trans: Ion transport protein (118 - 397)

Ion_trans

Ion_trans: Ion transport protein (674 - 860)

Ion_trans

Ion_trans: Ion transport protein (1208 - 1430)

Ion_trans

Ion_trans: Ion transport protein (1521 - 1728)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2223 a.a.
蛋白主名 其他名称

voltage-dependent T-type calcium channel subunit alpha-1I

calcium channel, voltage-dependent, T type, alpha 1I subunit

CACNA1I 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
Intra CACNA1I Q9P0X4 CATSPER2 Homo sapiens Q96P56
Anti Bait CoIP
16740636
Intra CACNA1I Q9P0X4 CATSPER2 Homo sapiens Q96P56
Pull Down
16740636
Intra CACNA1I Q9P0X4 CATSPER1 Homo sapiens Q8NEC5
Anti Bait CoIP
16740636
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
Autosomal Dominant Non-Syndromic Intellectual Disability
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
Childhood Electroclinical Syndrome
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy
Juvenile Absence Epilepsy

Epilepsy Juvenile Absence

Jae

Childhood Absence Epilepsy

Absence Epilepsy
Episodic Ataxia, Type 2

Episodic Ataxia Type 2

EA2

Apca

Capa

Cerebellopathy, Hereditary Paroxysmal

Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia

Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive

Episodic Ataxia With Nystagmus

Ataxia, Episodic, With Nystagmus

Episodic Ataxia, Nystagmus-Associated

Ataxia, Familial Paroxysmal

Acetazolamide-Responsive Episodic Ataxia Syndrome

Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia

Ataxia, Familial, Paroxysmal

Nystagmus-Associated Episodic Ataxia

Familial Paroxysmal Ataxia

Episodic Ataxia 2

Ea-2

Episodic Ataxia Nystagmus-Associated

Hereditary Paroxysmal Cerebellopathy

Ataxia, Episodic, Type 2
Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01799 CACNA1I Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CACNA1I VGNC VGNC:55869
Macaca mulatta CACNA1I VGNC VGNC:70506
Rattus norvegicus CACNA1I RGD RGD:68944
Canis familiaris CACNA1I VGNC VGNC:38639
Mus musculus CACNA1I MGD MGI:2178051
Felis catus CACNA1I VGNC VGNC:60300
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