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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
SPHK1 - Sphingosine Kinase 1
Alias:
SPHK
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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催化鞘氨醇磷酸化,形成具有细胞内和细胞外功能的脂质介质-1-磷酸鞘氨醇(S1P)。在细胞内,S1P调节增殖和生存,而在细胞外,它是细胞表面G蛋白偶联受体的配体。这个蛋白质及其产物S1P在TNF-alpha信号传导和NF-kappa-B激活途径中起着关键作用,这些途径在炎症、抗凋亡和免疫过程中起着重要作用。这个蛋白质的磷酸化改变其催化活性并促进其向质膜转移。可变剪接产生多个编码不同异构体的转录变异体。[由RefSeq,2017年9月提供]
Related ID:
NCBI:8877
ENSEMBL:ENSG00000176170
HGNC:11240
UNIPROT:Q9NYA1
OMIM:603730
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8877
5
6
4652 bp
42.52
19
--
9
21
SPHK1 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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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
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Journal
Year
IF
No Data Found!
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