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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
SELENOI - Selenoprotein I
Alias:
EPT1
SELI
SEPI
SPG81
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的多穿膜蛋白属于CDP-醇磷酸酰基转移酶I类家族。它催化磷酸乙醇胺从CDP-乙醇胺转移到二酸甘油醇以产生磷脂酰乙醇胺,参与囊泡膜的形成和维护,脂质代谢的调节以及蛋白质折叠。这个蛋白是硒蛋白,在其活性部位含有罕见的硒代半胱氨酸(Sec)氨基酸。Sec是由UGA密码子编码的,通常作为翻译终止信号。硒蛋白mRNA的3'UTR含有保守的茎环结构,称为Sec插入序列(SECIS)元素,对于识别UGA作为Sec密码子而不是作为停止信号是必要的。已发现这个基因的替代剪接转录变异体。[RefSeq,2016年7月提供]
Related ID:
NCBI:85465
ENSEMBL:ENSG00000138018
HGNC:29361
UNIPROT:Q9C0D9
OMIM:607915
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
85465
1
10
49743 bp
45.23
27
1
4
8
SELENOI 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
Organ
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Interactions
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Related Mouse Models
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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