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中文人类
NEDD4L - NEDD4 Like E3 Ubiquitin Protein Ligase
Alias:
RSP5
PVNH7
NEDD4-2
NEDD4.2
hNEDD4-2
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这个基因编码Nedd4家族的一员，该家族是HECT结构域E3泛素连接酶。HECT结构域E3泛素连接酶将泛素从E2泛素结合酶转移到蛋白质底物，从而将特定蛋白质靶向溶酶体降解。编码的蛋白质调节多种目标底物的泛素化，并在通过调节上皮钠通道ENaC的细胞表面表达来调节上皮钠转运中起到关键作用。这个基因中的单核苷酸多态性可能与原发性高血压有关。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[RefSeq，2012年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NEDD4L 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
