Log In|Sign Up
中文人类
DENND5A - DENN Domain Containing 5A
Alias:
DEE49
EIEE49
RAB6IP1
Favorite
这个基因编码一个含有DENN结构域的蛋白质，作为RAB激活的鸟苷酸交换因子(GEF)发挥作用。这个蛋白质催化GDP向GTP的转化，从而将不活跃的与GDP结合的RAB蛋白转化为它们活跃的与GTP结合的形式。编码的蛋白质被RAB6招募到高尔基体膜上，因此被称为RAB6相互作用蛋白1。这个蛋白质也能与RAB39结合。选择性剪接导致多个转录变异体，编码不同的异构体。这个基因的突变与早期婴儿癫痫脑病-49有关。[RefSeq提供，2017年2月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DENND5A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
