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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
Cav1 - caveolin 1, caveolae protein
Alias:
Cav
Cav-1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有多种功能,包括酶结合活性;相同的蛋白质结合活性;和蛋白质异源二聚化活性。参与多个过程,包括程序性细胞死亡的负调控;蛋白质修饰过程的负调控;和基因表达的调控。在乳汁产生的上游具有负作用。在几个过程的上游或内部发挥作用,包括血管直径的维持;血管形态发生;和信号转导的负调控。位于几个细胞组件中,包括顶体膜;洞穴蛋白;和细胞核周围的细胞质区域。是质膜的集成组件。是洞穴状大分子信号复合物的组成部分。与粘着斑共定位。在几个结构中表达,包括心血管系统;大脑皮质;肠平滑肌圆层;肺;和副中胚层。用于研究阿尔茨海默病;乳腺癌;和肥厚性心肌病。这个基因的人类同源物涉及几种疾病,包括乳腺癌(多种);脂肪营养不良(多种);原发性开角型青光眼;原发性肺高血压;和系统性硬皮病(多种)。与人类CAV1(洞蛋白1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:12389
ENSEMBL:ENSMUSG00000007655
UNIPROT:P49817
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12389
14
3
34937 bp
20.54
17
16
Cav1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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References Literature
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