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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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SIGMAR1 - Sigma Non-opioid Intracellular Receptor 1
Alias:
SRBP
ALS16
DSMA2
OPRS1
SR-BP
SIG-1R
SR-BP1
sigma1R
hSigmaR1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种与各种精神药物(包括可卡因和安非他命)相互作用的受体蛋白。该受体被认为在与内分泌、免疫和神经系统相关的各种细胞的细胞功能中扮演重要角色。根据其先前的名称,这个基因的产品被错误地认为具有阿片受体功能;现在被认为是一种非阿片受体。这个基因的突变与青少年肌萎缩侧索硬化症16有关。这个基因的可变剪接导致编码不同异构体的转录变异体。[由RefSeq,2013年8月提供]
Related ID:
NCBI:10280
ENSEMBL:ENSG00000147955
HGNC:8157
UNIPROT:Q99720
OMIM:601978
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10280
7
4
3066 bp
25.13
170
4
8
23
SIGMAR1 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
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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