1. Gene
  2. Ryr1 - ryanodine receptor 1, skeletal muscle Gene

Ryr1 - ryanodine receptor 1, skeletal muscle Gene

种属: Mus musculus

同用名: Ryr; skrr; RYR-1

基因 ID: 20190 | 基因类型: protein coding

关于 Ryr1

功能概要

Enables protease binding activity; ryanodine-sensitive calcium-release channel activity; and voltage-gated Calcium Channel activity. Involved in animal organ development; cellular response to caffeine; and release of sequestered calcium ion into cytosol by sarcoplasmic reticulum. Acts upstream of or within muscle contraction and release of sequestered calcium ion into cytosol. Located in T-tubule; sarcoplasmic reticulum membrane; and smooth endoplasmic reticulum. Part of junctional membrane complex. Is expressed in several structures, including brain; embryo mesenchyme; endocrine gland; heart; and skeletal musculature. Used to study central core disease and malignant hyperthermia. Human ortholog(s) of this gene implicated in central core disease; malignant hyperthermia; and multiminicore disease. Orthologous to human RYR1 (ryanodine receptor 1). [provided by Alliance of Genome Resources, Apr 2022]

Ryr1 基因产物(1)

mRNA Protein Name
NM_009109.2 NP_033135.2 ryanodine receptor 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 calcium channel activity IMP
IMP: 通过突变表型推断
18003898 MGI
enables enzyme binding IPI
IPI: 通过物理相互作用推断
19198614 MGI
enables protease binding IPI
IPI: 通过物理相互作用推断
18676612 MGI
enables protein binding IPI
IPI: 通过物理相互作用推断
15102471 MGI
enables ryanodine-sensitive calcium-release channel activity IMP
IMP: 通过突变表型推断
7621815 MGI
enables voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
12954602 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
involved in cellular response to caffeine IMP
IMP: 通过突变表型推断
7621815 MGI
acts upstream of or within muscle contraction IDA
IDA: 通过直接分析推断
12954602 MGI
acts upstream of or within muscle contraction IMP
IMP: 通过突变表型推断
12704193 MGI
involved in muscle contraction IMP
IMP: 通过突变表型推断
7515481 MGI
involved in ossification involved in bone maturation IMP
IMP: 通过突变表型推断
18003898 MGI
involved in outflow tract morphogenesis IMP
IMP: 通过突变表型推断
18003898 MGI
acts upstream of or within release of sequestered calcium ion into cytosol IMP
IMP: 通过突变表型推断
12704193 MGI
involved in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IMP
IMP: 通过突变表型推断
18003898 MGI
involved in skeletal muscle fiber development IMP
IMP: 通过突变表型推断
18003898 MGI
involved in skin development IMP
IMP: 通过突变表型推断
18003898 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
part of junctional membrane complex IDA
IDA: 通过直接分析推断
10444070 MGI
located in membrane IDA
IDA: 通过直接分析推断
7832748 MGI
part of protein-containing complex IDA
IDA: 通过直接分析推断
18676612 MGI
located in sarcoplasmic reticulum IDA
IDA: 通过直接分析推断
7832748 MGI
located in sarcoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
14592808 MGI
located in smooth endoplasmic reticulum IDA
IDA: 通过直接分析推断
23454728 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

ryanodine receptor 1

calcium release channel

skeletal muscle calcium release channel

skeletal muscle ryanodine receptor

skeletal muscle-type ryanodine receptor

type 1 ryanodine receptor

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Ryr1 NCBI NCBI:6261