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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
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中文
人类
WWP1 - WW Domain Containing E3 Ubiquitin Protein Ligase 1
Alias:
AIP5
Tiul1
hSDRP1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
WW域含蛋白在所有真核生物中都有发现,并在蛋白质降解、转录和RNA剪接等多种细胞功能的调节中扮演重要角色。这个基因编码一个包含4个串联WW结构域和HECT(与E6相关蛋白羧基末端同源)结构域的蛋白质。编码的蛋白质属于NEDD4样蛋白质家族,它们是E3泛素连接酶分子,并调节包括将蛋白质靶向至蛋白酶体或溶酶体等关键转运决策。这个基因的可变剪接至少产生了6种转录变异体;然而,这些转录本的完整长度尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:11059
ENSEMBL:ENSG00000123124
HGNC:17004
UNIPROT:Q9H0M0
OMIM:602307
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11059
10
25
125957 bp
105.20
7
--
8
17
WWP1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
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
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Cell-specific RNA expression
Organ
Abundance
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Interactions
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Regulation
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Residues
Reference
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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