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
GALNT4 - Polypeptide N-acetylgalactosaminyltransferase 4
Alias:
GALNACT4
GALNAC-T4
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UDP-N-乙酰-α-D-半乳糖胺:多肽N-乙酰半乳糖胺转移酶(GalNAc-T)家族的成员。GalNAc-Ts通过催化GalNAc转移到目标蛋白质上的丝氨酸和苏氨酸残基,开始在高尔基体中启动粘蛋白型O-连接糖基化。它们具有N-端跨膜结构域、茎区域、含有GT1基序和Gal/GalNAc转移酶基序的内腔催化结构域以及C-端蓖麻毒蛋白/凝集素样结构域。GalNAc-Ts具有不同的、但重叠的底物特性和表达模式。在体外,编码的蛋白质可以在粘蛋白-1串联重复的完整O-糖基化中补充其他GalNAc-T,并且可以O-糖基化P-选择素糖蛋白配体-1分子。这个基因的编码区包含在一个单外显子中。也存在将这个基因的一部分与相邻POC1B (POC1中心粒蛋白同源B)基因的5'外显子结合的融合转录本。[RefSeq,2010年12月提供]
Related ID:
NCBI:8693
ENSEMBL:ENSG00000257594
HGNC:4126
UNIPROT:Q8N4A0
OMIM:603565
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8693
1
1
5385 bp
66.67
9
--
2
6
GALNT4 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