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中文人类
RNF170 - Ring Finger Protein 170
Alias:
ADSA
SNAX1
SPG85
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这个基因编码一个位于内质网(ER)膜的含有RING结构域的蛋白质。这个蛋白质作为E3泛素连接酶，通过内质网相关蛋白降解途径介导肌醇1,4,5-三磷酸(IP3)受体的泛素化和加工。它被与它恒定结合的ERLIN1/ERLIN2复合物招募到激活的IP3受体上。这个基因的突变与常染色体显性感觉性共济失调有关。已经发现这个基因的替代剪接转录变异体。[RefSeq,2012年6月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RNF170 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
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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
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Target
Residues
Reference
Score
Related Mouse Models
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Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
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CAS Number
Status
Phase
Link
References Literature
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PMID
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