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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
SSH1 - Slingshot Protein Phosphatase 1
Alias:
SSH1L
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于调控肌动蛋白丝动态的slingshot同源(SSH)磷酸酶家族。SSH蛋白去磷酸化并激活肌动蛋白结合/解聚因子cofilin,cofilin随后结合肌动蛋白丝并刺激其解体。cofilin被激酶如LIM结构域激酶-1(LIMK1)抑制,LIMK1也可能被SSH蛋白去磷酸化并抑制。因此,SSH家族通过重活化cofilin蛋白似乎在肌动蛋白动态中发挥作用。这个基因的不同剪接转录变异体已经描述,编码不同的异构体。[RefSeq,2011年8月提供]
Related ID:
NCBI:54434
ENSEMBL:ENSG00000084112
HGNC:30579
UNIPROT:Q8WYL5
OMIM:606778
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54434
16
15
79393 bp
115.51
54
--
4
18
SSH1 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
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Cell-specific RNA expression
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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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