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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
人类
STX1A - Syntaxin 1A
Alias:
STX1
HPC-1
P35-1
SYN1A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个语法素超家族的成员。语法素是神经系统特异性的蛋白质,参与突触囊泡与前突触质膜的对接。语法素具有一个C-末端跨膜结构域,一个SNARE(可溶的NSF(N-乙基马来酰亚胺敏感的融合蛋白)附着蛋白受体)结构域(称为H3),和一个N-末端调节结构域(Habc)。语法素以钙依赖的方式与突触素结合,并通过C-末端H3结构域与电压依赖的钙和钾通道相互作用。这个基因产物是离子通道调节和突触外泌体的关键分子。已经发现这个基因的不同剪接转录变异体编码不同的异构体。[由RefSeq,2009年9月提供]
Related ID:
NCBI:6804
ENSEMBL:ENSG00000106089
HGNC:11433
UNIPROT:Q16623
OMIM:186590
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6804
4
10
20460 bp
33.02
13
3
13
17
STX1A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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