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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
小鼠
Itpr1 - inositol 1,4,5-trisphosphate receptor 1
Alias:
opt
Ip3r
P400
Pcp1
wblo
IP3R1
Pcp-1
D6Pas2
IP3R 1
InsP3R
Itpr-1
Gm10429
insP3R1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活与调节突触后细胞内钙水平相关的肌醇1,4,5-三磷酸受体活性;磷脂酰肌醇结合活性;和蛋白质结构域特异性结合活性。参与几个过程,包括上皮液体的传输;响应内质网应力的内在凋亡信号通路;以及序列中隔离的钙离子进入细胞质。在几个过程的上游或内部发挥作用,包括钙离子传输;内质网钙离子稳态;和自愿的肌骨骼运动。位于内质网;核;和突触后密度。是钙神经素复合物的组成部分。在Schaffer collateral - CA1突触中是活跃的。在几个结构中表达,包括大脑;棕色脂肪;生殖泌尿系统;心脏;和血淋巴系统。这个基因的人类同源物涉及吉莱斯皮综合征;脊髓小脑性共济失调15型;和脊髓小脑性共济失调29型。与人类ITPR1(肌醇1,4,5-三磷酸受体1型)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:16438
ENSEMBL:ENSMUSG00000030102
UNIPROT:P11881
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
16438
20
62
338034 bp
313.17
18
28
Itpr1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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