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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
BMAL1 - Basic Helix-loop-helix ARNT Like 1
Alias:
TIC
JAP3
MOP3
ARNTL
PASD3
ARNTL1
BMAL1c
bHLHe5
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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是一种与CLOCK形成异二聚体的基本螺旋-环-螺旋蛋白。这个异二聚体结合周期(PER1、PER2、PER3)和隐花色素(CRY1、CRY2)基因上游的E-box增强子元素,并激活这些基因的转录。PER和CRY蛋白通过与其CLOCK/ARNTL复合物在反馈环路中相互作用,实现其自身的转录抑制。这个基因的缺陷与不育、糖异生和脂生成问题以及睡眠模式的改变有关。这个蛋白质调节干扰素刺激的基因表达,是包括COVID-19在内的病毒感染的重要因素。[由RefSeq,2021年10月提供]
Related ID:
NCBI:406
ENSEMBL:ENSG00000133794
HGNC:701
UNIPROT:O00327
OMIM:602550
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
406
41
20
110615 bp
68.76
11
--
21
29
BMAL1 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
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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
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CAS Number
Status
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Link
No data available
References Literature
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IF
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