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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
Col1a1 - collagen, type I, alpha 1
Alias:
Cola1
Mov13
Cola-1
Mov-13
Col1a-1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码形成原纤维的I型胶原的α-1亚基,I型胶原是骨骼、皮肤和肌腱细胞外基质中最丰富的蛋白质。编码的蛋白质与α-2亚基结合,形成异源三聚型I前胶原,在纤维形成过程中进行蛋白水解加工。缺乏编码蛋白质的小鼠在子宫内因主要血管破裂而死亡。表达这个基因显著较低水平的转基因小鼠在矿化和非矿化结缔组织中表现出形态和功能缺陷,并逐渐丧失听力。[RefSeq,2015年11月提供]
Related ID:
NCBI:12842
ENSEMBL:ENSMUSG00000001506
UNIPROT:P11087
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12842
1
51
16819 bp
138.03
212
17
Col1a1 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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Cell-specific RNA expression
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Acting
Regulation
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Type
Name
MGI
Strain of Origin
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References Literature
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IF
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