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RYR1 P21817

兰尼碱受体1 (RYR-1) (RyR1) (骨骼肌钙释放通道) (骨骼肌兰尼碱受体) (骨骼肌型兰尼碱受体) (1型兰尼碱受体)

蛋白质信息 (UniProt)

兰尼碱受体1 (RYR-1) (RyR1) (骨骼肌钙释放通道) (骨骼肌兰尼碱受体) (骨骼肌型兰尼碱受体) (1型兰尼碱受体)

P21817

功能描述

胞质钙激活钙通道,介导Ca(2+)从肌浆网释放到胞质中,从而在T管去极化后触发肌肉收缩中起关键作用 (PubMed:11741831, PubMed:16163667, PubMed:18268335, PubMed:18650434, PubMed:26115329)。反复的超高强度运动会增加该通道的开放概率,导致Ca(2+)渗漏到细胞质中 (PubMed:18268335)。也能介导神经元内储存库中Ca(2+)的释放,并可能因此促进大脑中持续的Ca(2+)信号传导。为肌纤维和骨骼肌的正常胚胎发育所必需。为胚胎发育过程中正常的心脏形态发生、皮肤发育和骨化所必需 (By similarity)。 {ECO:0000250|UniProtKB:E9PZQ0, ECO:0000269|PubMed:18268335, ECO:0000269|PubMed:18650434, ECO:0000269|PubMed:26115329, ECO:0000305|PubMed:11741831, ECO:0000305|PubMed:16163667}。

组织特异性

Skeletal muscle and brain (cerebellum and hippocampus).

亚细胞定位

Sarcoplasmic reticulum membrane

关键词

3D-structure Alternative splicing ATP-binding Calcium Calcium channel Calcium transport Calmodulin-binding Developmental protein Direct protein sequencing Disease variant