Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
人类
ADAM17 - ADAM Metallopeptidase Domain 17
Alias:
CSVP
TACE
NISBD
ADAM18
CD156B
NISBD1
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
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ADAM(整合素和金属蛋白酶结构域)家族的一员。这个家族的成员是结构上与蛇毒整合素有关的膜锚定蛋白,与细胞间和细胞基质相互作用的各种生物过程有关,包括受精、肌肉发育和神经发生。编码的前原蛋白在蛋白水解过程中被加工成成熟的蛋白酶。编码的蛋白酶在肿瘤坏死因子-α的胞外域脱落中发挥作用,其中可溶性的肿瘤坏死因子-α从膜结合的前体中释放出来。该蛋白酶还在处理多种其他底物中发挥作用,包括细胞粘附蛋白、细胞因子和生长因子受体以及表皮生长因子(EGF)受体配体,并在Notch信号通路激活中发挥作用。已观察到这个基因在来自银屑病、类风湿性关节炎、多发性硬化症和克罗恩病患者的特定细胞类型中表达升高,提示编码的蛋白质可能在自身免疫疾病中发挥作用。此外,该蛋白酶还可以通过切割ACE2(SARS-CoV和SARS-CoV-2的细胞受体)在病毒感染中发挥作用。[由RefSeq,2020年8月提供]
Related ID:
NCBI:6868
ENSEMBL:ENSG00000151694
HGNC:195
UNIPROT:P78536
OMIM:603639
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6868
6
19
67345 bp
93.02
449
2
20
25
ADAM17 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
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
Organ
Abundance
Alphabetical
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
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Mutation Direct
Sequence
Comparison
Al agent
Tutorials
Back to top