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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
INSIG1 - Insulin Induced Gene 1
Alias:
CL6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个内质网膜蛋白,可调节胆固醇代谢、脂生成和血糖平衡。编码的蛋白质有六个跨膜螺旋,包含一个效应蛋白结合位点。它结合胆固醇感受元件结合蛋白(SREBP)切割激活蛋白(SCAP)和3-羟基-3-甲基戊酸辅酶A还原酶(HMG-CoA还原酶)的固醇感受结构域,对于这两个蛋白质的固醇介导的转运是必需的。它促进SCAP的内质网保留和HMG-CoA还原酶的泛素介导降解。可变剪接产生多个转录变异体。[RefSeq,2016年10月提供]
Related ID:
NCBI:3638
ENSEMBL:ENSG00000186480
HGNC:6083
UNIPROT:O15503
OMIM:602055
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3638
8
6
12358 bp
29.99
10
--
6
22
INSIG1 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
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Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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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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