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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
SYMPK - Symplekin Scaffold Protein
Alias:
SPK
SYM
Pta1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种在调控聚腺苷酸化中起作用的核蛋白,并促进基因表达。该蛋白与聚腺苷酸化机制的组件形成高分子量复合物。被认为作为将调控因子招募到聚腺苷酸化复合物中的支架。该蛋白还参与不经历聚腺苷酸化的组蛋白mRNA的3'端成熟过程。该蛋白还定位到某些细胞类型中紧密连接的细胞质斑块中。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8189
ENSEMBL:ENSG00000125755
HGNC:22935
UNIPROT:Q92797
OMIM:602388
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8189
3
27
47738 bp
141.15
43
--
5
22
SYMPK 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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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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