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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
大鼠
Synj1 - synaptojanin 1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
磷酸酶活性激活因子;C端结合蛋白;蛋白结构域特异性结合活性。参与神经系统发育、受体介导的内吞作用正向调节以及视酸反应等过程。位于细胞质、神经元突起和突触膜上。是覆盖凹坑的clathrin外壳的一部分。在平行纤维与Purkinje细胞突触和前突触中活性。与微管蛋白共定位。该基因的人类同源物与帕金森病、帕金森病20和发育性癫痫性脑病53有关。与人类SYNJ1(突触素1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:85238
ENSEMBL:ENSRNOG00000002051
UNIPROT:Q62910
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
85238
18
32
76819 bp
172.88
7
9
Synj1 Genetics information (-)
mRatBN7.2
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Abundance
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Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
References Literature
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PMID
Journal
Year
IF
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