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
FBLIM1 - Filamin Binding LIM Protein 1
Alias:
CAL
FBLP1
FBLP-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
这个基因编码一个蛋白质,具有N端的filamin结合域,中央的脯氨酸丰富的域,以及多个C端的LIM域。这种蛋白质定位在细胞连接处,可能将细胞粘附结构连接到肌动蛋白细胞骨架。这种蛋白质可能参与肌动蛋白纤维的组装和稳定,可能在调节细胞粘附、细胞形态和细胞运动中发挥作用。这种蛋白质也定位在细胞核中,可能通过与CSX / NKX2-5转录因子结合影响心肌细胞分化。可变剪接产生多个转录变体,编码不同的等位基因。[由RefSeq提供,2008年7月]
Related ID:
NCBI:54751
ENSEMBL:ENSG00000162458
HGNC:24686
UNIPROT:Q8WUP2
OMIM:607747
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54751
43
9
29952 bp
40.67
23
--
12
8
FBLIM1 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