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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
小鼠
Usf1 - upstream transcription factor 1
Alias:
bHLHb11
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码的蛋白质是basic-Helix-Hoop-Helix-Leucine zipper (bHLH-LZ)家族的一员,可以编码一个可以作为转录因子的蛋白质。研究表明,基本区域与E-Box基元序列的DNA相互作用,而螺旋-环-螺旋和亮氨酸拉链结构域涉及与不同伙伴的二聚化。这个蛋白质涉及多种生物途径,包括细胞周期调节、免疫应答和对紫外线辐射的应答。缺乏这个基因的大部分编码外显子的小鼠通常缺乏触须和鼻毛,容易患癫痫发作,而缺乏这个基因和另一个家庭成员Usf2的小鼠显示胚胎致死性(PMID:9520440)。这个基因的人类正交基因突变与人类中的家族性混合高脂血症(FCHL)有关。这个基因的假基因位于染色体11和X染色体上。选择性剪接产生多种转录变异体,编码不同的异构体。[RefSeq,2015年3月提供]
Related ID:
NCBI:22278
ENSEMBL:ENSMUSG00000026641
UNIPROT:Q61069
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
22278
7
10
7453 bp
33.57
11
7
Usf1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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References Literature
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