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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
Syn1 - synapsin I
Alias:
Syn-1
Syn1-S
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有相同的蛋白质结合活性和蛋白激酶结合活性。参与突触囊泡循环和突触囊泡聚集的调节。在神经递质分泌的上游发挥作用。位于几个细胞组件中,包括Schaffer collateral - CA1突触;突触囊泡膜;和接合复合物。在膈肌;肋间肌;磨牙;神经系统;和感觉器官中表达。用于研究自闭症谱系障碍。这个基因的人类同源物涉及X连锁癫痫,伴有可变的学习障碍和行为障碍以及非综合征性X连锁智力残疾50。与人类SYN1(突触蛋白I)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:20964
ENSEMBL:ENSMUSG00000037217
UNIPROT:O88935
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
20964
2
13
60408 bp
74.10
8
11
Syn1 Genetics information (-)
GRCm39
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
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Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
References Literature
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PMID
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Year
IF
No Data Found!
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