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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
HECW1 - HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 1
Alias:
NEDL1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
预测能激活泛素蛋白连接酶活性。预测涉及几个过程,包括细胞蛋白质代谢过程;负调节钠离子跨膜转运体活性;以及树突形态发生学的调节。位于细胞质中。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:23072
ENSEMBL:ENSG00000002746
HGNC:22195
UNIPROT:Q76N89
OMIM:610384
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23072
19
30
453355 bp
179.55
58
--
5
7
HECW1 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
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Residues
Reference
Score
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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!
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