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
CYFIP1 - Cytoplasmic FMR1 Interacting Protein 1
Alias:
SHYC
SRA1
SRA-1
P140SRA-1
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
这个基因编码一种调节细胞骨架动力学和蛋白质翻译的蛋白质。编码的蛋白质是WAVE调节复合物(WRC)的组成部分,促进肌动蛋白聚合。这种蛋白质还与突触功能调节因子FMR1蛋白质和翻译起始因子4E相互作用,以抑制蛋白质翻译。人类患者中包括这个基因的大染色体缺失与精神分裂症和癫痫病风险增加相关。这个基因在多种人类癌症中的表达减少,其编码的蛋白质可能抑制肿瘤侵袭。[RefSeq,2022年3月提供]
Related ID:
NCBI:23191
ENSEMBL:ENSG00000273749
HGNC:13759
UNIPROT:Q7L576
OMIM:606322
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23191
10
31
113847 bp
145.18
92
--
8
12
CYFIP1 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