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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
CNTNAP1 - Contactin Associated Protein 1
Alias:
CHN3
P190
CASPR
NRXN4
CNTNAP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
该基因产物最初被鉴定为与接触蛋白-PTPRZ1复合物相关的190kD蛋白质。这个1384个氨基酸的蛋白质,也被命名为p190或CASPR(接触蛋白相关蛋白),包括一个具有几个推测的蛋白质相互作用结构域的细胞外结构域,一个推测的跨膜结构域,以及一个74个氨基酸的细胞质结构域。北方杂交分析表明,该基因主要在大脑中作为6.2kb的转录本转录,在其他测试的多个组织中有弱表达。其细胞外结构域的构架与神经元的构架相似,该蛋白质可能是接触蛋白的信号亚单位,使神经元中的细胞内信号通路招募和激活成为可能。[由RefSeq,2009年1月提供]
Related ID:
NCBI:8506
ENSEMBL:ENSG00000108797
HGNC:8011
UNIPROT:P78357
OMIM:602346
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8506
1
24
17463 bp
156.27
421
7
15
8
CNTNAP1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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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)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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