1. Gene
  2. Cacna1s - calcium channel, voltage-dependent, L type, alpha 1S subunit Gene

Cacna1s - calcium channel, voltage-dependent, L type, alpha 1S subunit Gene

种属: Mus musculus

同用名: sj; fmd; mdg; DHPR; Cav1.1; Cchl1a3; DHPR alpha1s

基因 ID: 12292 | 基因类型: protein coding

关于 Cacna1s

功能概要

Enables voltage-gated Calcium Channel activity. Acts upstream of or within several processes, including extraocular skeletal muscle development; myotube differentiation; and skeletal muscle adaptation. Located in T-tubule and sarcoplasmic reticulum. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and skeletal musculature. Used to study hypokalemic periodic paralysis. Human ortholog(s) of this gene implicated in hypokalemic periodic paralysis and malignant hyperthermia. Orthologous to human CACNA1S (calcium voltage-gated channel subunit alpha1 S). [provided by Alliance of Genome Resources, Apr 2022]

Cacna1s 基因产物(3)

mRNA Protein Name
NM_001081023.3 NP_001074492.1 voltage-dependent L-type calcium channel subunit alpha-1S isoform 2
NM_001402949.1 NP_001389878.1 voltage-dependent L-type calcium channel subunit alpha-1S isoform 3
NM_014193.4 NP_055008.2 voltage-dependent L-type calcium channel subunit alpha-1S isoform 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 voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
12954602 MGI
enables voltage-gated calcium channel activity IMP
IMP: 通过突变表型推断
9929471 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within calcium ion transport IDA
IDA: 通过直接分析推断
12954602 MGI
acts upstream of or within calcium ion transport IMP
IMP: 通过突变表型推断
1663002 MGI
acts upstream of or within endoplasmic reticulum organization IMP
IMP: 通过突变表型推断
5041196 MGI
acts upstream of or within extraocular skeletal muscle development IMP
IMP: 通过突变表型推断
14618389 MGI
acts upstream of or within muscle cell development IMP
IMP: 通过突变表型推断
5041196 MGI
acts upstream of or within muscle contraction IDA
IDA: 通过直接分析推断
8143864 MGI
acts upstream of or within muscle contraction IMP
IMP: 通过突变表型推断
4738109 MGI
acts upstream of or within myoblast fusion IMP
IMP: 通过突变表型推断
10949052 MGI
acts upstream of or within neuromuscular junction development IMP
IMP: 通过突变表型推断
6692971 MGI
acts upstream of or within skeletal muscle adaptation IMP
IMP: 通过突变表型推断
2419767 MGI
acts upstream of or within skeletal muscle fiber development IDA
IDA: 通过直接分析推断
8143864 MGI
acts upstream of or within skeletal muscle fiber development IMP
IMP: 通过突变表型推断
289331 MGI
acts upstream of or within skeletal muscle tissue development IMP
IMP: 通过突变表型推断
6500174 MGI
acts upstream of or within skeletal system development IMP
IMP: 通过突变表型推断
6501560 MGI
acts upstream of or within striated muscle contraction IMP
IMP: 通过突变表型推断
1281468 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in T-tubule IDA
IDA: 通过直接分析推断
8943043 MGI
located in sarcoplasmic reticulum IDA
IDA: 通过直接分析推断
8943043 MGI
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
蛋白主名 其他名称

voltage-dependent L-type calcium channel subunit alpha-1S

dihydropyridine receptor alpha 1S

muscle dysgenesis

voltage-gated calcium channel subunit alpha Cav1.1

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Cacna1s NCBI NCBI:779