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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
NOD1 - Nucleotide Binding Oligomerization Domain Containing 1
Alias:
CARD4
NLRC1
CLR7.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码核苷酸结合寡聚域(NOD)样受体(NLR)家族蛋白质的一员。编码的蛋白质通过作为结合细菌肽聚糖并启动炎症的模式识别受体(PRR)在先天免疫中发挥作用。该蛋白质还与对病毒和寄生虫感染的免疫反应有关。该蛋白质的主要结构特征包括N端的天冬氨酸酶招募结构域(CARD)、中央位置的核苷酸结合结构域(NBD)以及C端10个串联的富含亮氨酸的重复序列(LRRs)。CARD参与凋亡信号传导,LRRs参与蛋白质-蛋白质相互作用,NBD中的突变可能影响寡聚过程和LRR结构域的后续功能。这个基因的突变与人类患者的哮喘、炎症性肠病、Behcet病和肉样瘤病有关。[RefSeq,2017年8月提供]
Related ID:
NCBI:10392
ENSEMBL:ENSG00000106100
HGNC:16390
UNIPROT:Q9Y239
OMIM:605980
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
10392
31
14
54258 bp
107.69
80
--
5
32
NOD1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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